HO/01(P) INCIDENCE OF IRON DEFICIENCY IN NON ANAEMIC CHILDREN
Mir M.S,Qadri M.I, Sethi A.S, Farooq A., Buch N. A,
Govt. Hospital for Children Srinagar and SKIMS Soura Srinagar
Introduction: Iron deficiency ismost widespread nutritional deficiency in developing countries it manifests
as latent iron deficiency and then iron deficiency anaemia.Among various parameters used to diagnose
latent iron deficiency, serium ferritin essay stands the most dependable one. Aims and Objective: This
study was an effort to know the incidence of latent iron deficiency in Kashmiri Paediatric publition present
studies also shows that seruim ferritin estimation ismost dependable criterion for diagnosis of latent iron
deficiency. Magnitude of latent iron deficiency in a population would guide in dietry modification and
planing of iron suprementation to prevent iron deficiency anaemia which forms the main bulk of
haemotological problems. Material & Method: Eighty non anaemic healthy children and 20 anemic
children (as control) were subjected to blood sampling for complete haemogram, HCT bywintrops method,
serium iron estimation by adoptation of peters method and serium ferritin by enzyme immunoessay test.
Bone Marrow aspiration was done in aneamic children. results were compared and were tested for
statistical significants. Results: Sd value of HB (gm/dl) HCT%, serium iron (mcg/dl) serum ferritin
(ng/ml)in aneamic and non aneamicchildren were 6.2 +/- 1.52 VS12.4+/-0.87, 21.65 +/- 3.99 VS37.5 +/2.2, 49.9 +/- 50.7 VS 113.9+/- 64.4 and 16.6 +/- 14.6 VS 42 +/- 39.5 respectively. Differences were
statistically significant.There was good correlation between bone marrow store and serium ferritin
Conclusion: Serium Ferritin <12ngm/ml is dignostic of latent iron difeciency in non aneamic patients and
iron dificiency aneamia in aneamic children. Incidence of latent iron difeciency in non aneamic children is
26.8%. Few studies are done to asses iron stores in indian children. Serum ferritin essay would be of
imence help to diagnose latent iron difeciency and to asses iron status in population survey studies.
HO/02(P) IRON STATUS IN CHILDREN WITH SICKLE CELL DISEASE AND TRAIT
Sudhir Mishra, Dilip Kumar, DP Patra
Department of Pediatrics, Tata Main Hospital, Jamshedpur- 831001
Introduction: Sickle Cell Disease (SCD) and iron deficiency anemia are widely prevalent in tribal children
of Eastern India. Increased iron absorption due to persistent anemia is considered to prevent iron deficiency
in these children. Therefore iron is not given even if the hemoglobin is low but above levels requiring blood
transfusion. Frequent blood transfusion increases risk of iron overload. Aims and Objectives: To study the
iron status and its therapeutic implication in children with SCD and Sickle Cell Trait (SCT). Material and
Methods: A prospective study, including children with hemoglobin AS and SS pattern between 3-18 years.
Children with sickle cell beta thalassemia were excluded. Clinical details were recorded on pre-designed
and pre-tested proforma. Investigations included complete blood count, reticulocyte count, MCV, MCH,
MCHC, S. ferritin and S.iron. Other investigations were as indicated. Results: Thirty- six children (SCT-26,
SCD-10) were studied. Low S. iron and ferritin were found in nine (25%) children (SCT-8, SCD-1). All
eight children with high S. iron and S. ferritin (SCD-4, SCT-4) had received more than 10 units of blood.
The difference in iron deficiency between children with SCD and SCT was statistically significant (p <
0.05). All children with iron deficiency showed clinical improvement within 15 days and haematologic
parameters within one month of iron therapy. Chelation therapy reduced iron and ferritin levels.
Conclusion: Data from this study suggests that iron status should be monitored in children with SCD and
SCT as it has therapeutic implications.
HO/03(O) INTENSIVE IMMUNOTHERAPY FOR SEVERE/ VERY SEVERE APLASTIC
ANEMIA.
Jagdish Chandra, Rahul Naithani, Shashi Narayan, Varinder Singh, Harish Pemde, Sunita Sharma, A K
Dutta
Division of Pediatric Hematology, Deptt. of Pediatrics and 1Pathology, Lady Hardinge Medical College,
Kalawati Saran Children’s Hospital, New Delhi.
Background and Objective: Acquired aplastic anemia (AA) is an uncommon but serious disorder
characterized by pancytopenia resulting from nonfunction of the bone marrow. Although bone marrow
transplantation (BMT) from a HLA identical sibling donor is the treatment of choice for severe / very
severe aplastic anemia (SAA / VSAA), in developing countries this approach is limited due to various
factors including cost of treatment, non-availability of expertise and matched donors. Several recent studies
have shown encouraging results with intensive immunotherapy (IIST) including a combination of
antithymocyte globulin (ATG) and cyclosporine (CSA) but the patients treated in these studies were
primarily adults. There are several differences in disease characteristics, treatment methods, and therapeutic
response between children and adults that have received little attention. The objective of this article is to
report the results of IIST in SAA/ VSAA in children. Methods: Patients with AA were eligible if they met
the following criteria: age < 12 years, recently diagnosed disease (within 120 days) without specific prior
treatment, and severe to very severe aplastic anemia. The disease was considered SAA if at least two of the
following were noted: a neutrophil count of less than 0.5 × 109/L, a platelet count of less than 20 × 109/L,
and a reticulocyte count of less than 1% with hypocellular bone marrow . VSAA was defined if the criteria
for severe disease were fulfilled and the neutrophil count were below 0.2 × 109/L. Patients were treated
with horse ATG (Lymphoglobuline; Merieux, Lyon, France) or Atgam (Upjohn, USA) or Thymogam
(Bharat Serum, India)] with CSA . ATG was administered at a dose of 15-mg/ kg/day for 5 days 6 hours
after a test dose. Cyclosporine (10 mg/kg/ day orally) was started on day 1 and continued at least until day
180. Eight patients also received high dose methyl-prednisolone. Supportive therapy with packed red cell
and platelet transfusion and appropriate antibiotics was administered as per protocol. Complete response
(CR) was defined as transfusion independence with a neutrophil count >1.5 × 109/L, a platelet count
>100 × 109/L, and a hemoglobin level of >10.0 g/dL.Partial remission (PR) was defined by transfusion
independence and by an unsupported increase of the counts of at least one cell line over baseline values (Hb
by at least 2 g/dL and actual value> 8g/dl; granulocytes by at least 0.5 × 109/L, if previously lower than
0.5 × 109/L and platelets > 30 × 109/L, if previously lower than 20 × 109/L) in patients with SAA or VSAA.
Results : Seventeen (14 M: 3 F) aplastic anemia patients (6 VSAA and 11 SAA) were with median age 8
years (range 6-12 years) were included . Two patients died within 1 month of therapy. At 6 months,
8/15 (53 %) patients achieved at least PR. At the end of 1 year; 2 patients had achieved CR and 5 patients
continued in partial remission while one died of septicemia after 8 month of therapy. The response was
greater in SAA (54.5 %) with 2 CR and 4 PR; than in VSAA (33%) with 2 PR. One patient developed
AML 13 months later. Seven (41%) patients were alive without response. Serum sickness was observed in
three patients. Elevation of serum creatinine and liver enzymes due to CSA were observed in 8 patients but
the changes were reversible on reducing the dose or temporarily stopping the drug. Conclusion: We
conclude that IIST with antithymocyte globulin and cyclosporin with or without high dose methyl
prednisolone is an effective treatment for severe and very severe aplastic anemia patients who are ineligible
for bone marrow transplantation. IIST is well tolerated.
HO/04(O) DIVERSE CLINICAL PRESENTATION OF LANGERHANS CELL HISTIOCYTOSIS
(LCH) WITH LIVER INVOLVEMENT
Sharma S, Mahajan A, Sibal A
Indraprastha Apollo Hospital, Mathura Road, Sarita Vihar, New Delhi
Childhood histiocytosis is rare and its diverse presentation makes it difficult to diagnose when encountered
in pediatric practice. Liver lesion with presence of dysfunction at time of diagnosis is a poor prognostic
sign and is seen in 20% of cases with LCH. In the past 18 months we saw 4 children aged 12,13,14 and 36
months, presenting with varied clinical features. The diagnoses before presenting to us were fever of
unknown origin, galactosemia, tuberculosis and chronic otitis media with seborrhoeic dermatitis. They
presented to us after no improvement was achieved. The three younger children had persisting fever for
more than 2 months with skin rash and additionally presented with a)increasing irritability with reduced
oral intake b)jaundice, hepatosplenomegaly and respiratory distress and c)weight loss, progressive icterus,
pale stools and hepatomegaly. The 3-year old had recurrent ear discharge with skin rash and later
developed localized swelling on the forehead. Skull X-ray showed a lytic bone defect and on direct
questioning he was found to have polydipsia and polyuria. Ultrasound abdomen showed a solitary solid
mass in the liver. LCH with liver involvement was considered and confirmed by histopathology in all 4
children. Treatment was initiated according to LCH III protocol and while 2 children are on follow-up, two
children expired few months after presentation. While mild disease has an excellent prognosis and is selfresolving, multi-organ involvement (especially liver, lung and bone marrow) in children less than 2 years of
age and lack of response during the first six weeks of treatment are poor prognostic factors with up to 66%
mortality rate. Therapy for multi-organ involvement includes vinblastine, etoposide and prednisolone.
Studies adding 6-mercaptopurine and methotrexate to the treatment plan have shown low incidence of
sequelae of LCH, while overall mortality remains unchanged. New treatment approaches include the use of
cyclosporine, antimetabolite 2-chlorodeoxyaenosine (2-Cda) and monoclonal antibody therapy with CD1a
as the target epitope.
HO/05(P) BRONCHOALVEOLAR LAVAGE CYTOLOGY IN 15 THALASSEMIA MAJOR
CHILDREN
Ankit Parakh, A.P.Dubey, G. R. Sethi, .Shyma Jain
Department of Paediatrics And Pathology Maulana Azad Medical College, New Delhi-110002
Introduction: Despite greater than 20 years of study, the cause of pulmonary dysfunction in thalassemia is
not established. Data is still inconclusive whether the cause of pulmonary abnormalities is
hemosiderosis.Aims And Objectives: To study the cause of pulmonary dysfunction by bronchoalveolar
lavage (BAL) cytology. Material and methods: 31 thalassemics were recruited. All underwent pulmonary
function tests (spirometry, lung volumes and single breath carbon monoxide diffusion capacity). Serum
ferritin was measured. Those with abnormal pulmonary function tests or impaired diffusion capacity or
both (15 of 31) were further subjected to bronchoalveolar lavage. Total cell count was measured.
Differential cell count was done on Giemsa and PAP stained smears. Iron laden macrophages were
identified on Perl's stain (Prussian blue reaction). Results: Iron laden macrophages were demonstrated in
majority of the broncho alveolar lavage (14 out of 15 patients). The total count was normal in all the
patients. Differential count did not reveal any specific abnormality. Lymphocytic alveolitis was
demonstrated in 2 patients. In one of these patients neutrophils and eosinophils were also more than the
upper limit of normal. Conclusions: The presence of Iron laden macrophages in bronchoalveolar lavage in
majority of cases corroborates the hypothesis of an iron induced toxic mechanism, although a confirmation
can be given by a lung biopsy. Lymphocytic alveolitis was demonstrated in 2 patients. It might indicate a
hypersensitivity or allergic reaction (allergic alveolitis) to iron, which is a heavy metal. This issue needs
further studies with a larger sample size.
HO/06(O)
NEUROLOGICAL
COMPLICATIONS
IN
CHILDREN
WITH
LYMPHOBLASTIC LEUKAEMIA
Leni G Mathew, Anila Chacko, Jincy Jeba, Santhosh K, Vanathi Sethupathy, Julius Scott
Paediatric Oncolgy, Department of Child Health, CMC, Vellore.
ACUTE
Aim: To study the neurological complications in children receiving treatment for Acute Lymphoblasic
Leukaemia.(ALL) Patients and Methods: Children with ALL attending paediatric Oncology unit of CMC,
Vellore from Aug 2003 till Aug 2005 were included and their clinical records were reviewed. Results: 110
children received treatment for ALL. 66% had preB ALL, 20% T ALL, 5% biphenotypic ALL and the
remaining were unclassified. 23 children had various neurological complications. 4 had paraparesis at
diagnosis, 8 children developed various neurological problems following vincristine; 5 had peripheral
neuropathy and 3 had ptosis. Complications of Intrathecal methotrxate included opisthotonic posturing in 4
and leucoencehalopathy in 2. A child with T ALL developed intractable seizure and hyponatremia. 2
children had ADEM, 1 had CNS toxoplasmosis and another child had traumatic injury following a fall.
Conclusion: Incidence of neurological complication in children with ALL in our centre was 20%. Majority
were related to the treatment and it varied in severity from mild and transient to chronic or fatal.
HO/07(O) COMPARATIVE STUDY OF DESFERRIOXAMINE AND DEFERIPRONE (L-1) IN THALASSEMIA MAJOR
B. M. John, P. L. Prasad,
Graded Specialist (Pediatrics), 7 Air Force Hospital, Kanpur Cantt. -208004
Background: The treatment of thalassemia major revolves around effective blood transfusion and
prevention of iron overload. Therapy with the time tested parenteral iron chelator desferrioxamine (DFO) is
fraught with difficulty with respect to availability and compliance. The last two decades have witnessed use
of an oral iron chelator deferiprone (DFP) with variable results. Objectives: (i) To compare the efficacy of
desferrioxamine and deferiprone in lowering body iron using 24 hour urinary iron excretion and serum
ferritin. (ii)
To look at the adverse effects of therapy. Methods: A randomised prospective study was
done with 40 thalassemic children between 3 to 11 years over a 20 month period. 20 children were
recruited in each treatment group with DFO group receiving s/c infusion of desferrioxamine 2550mg/kg/day, 5 times a week and DFP group receiving deferiprone 75mg/kg/day. 24hour urinary iron
excretion and serum ferritin levels were studied before and after use of DFO and DFP and compared.
Adverse effects were also studied simultaneously. Results: There was a significant rise in mean 24-hour
urinary iron excretion from 0.88mg/day to 14.73mg/day in DFO group and from 0.87mg/day to
11.5mg/day in the DFP group (p<0.05 in both groups –paired t test). There was also a significant fall in
mean serum ferritin in DFO group from 4683.20ng/ml to 1983.85ng/ml and in the DFP group from
4451.29ng/ml to 2107.24ng/ml (p<0.05 in both groups –paired t test). There was no significant difference
in the percentage change in iron excretion or drop in ferritin levels when the two groups were compared
with each other (p>0.05 by unpaired t test). The adverse effects in DFO group were minor pain/swelling in
15% cases. Adverse effects in DFP group included GI disturbances in 10% cases, arthralgias in 29% and
arthritis in 20%. None necessitated discontinuation of chelators. Conclusion: Deferiprone may be as
effective as desferrioxamine in the treatment of thalassemia major with only few mild side effects.
HO/08(P) FANCONI’S ANAEMIA WITH ACUTE MYELOID LEUKAEMIA (M7) IN A CHILD
Nalini K Pati, Peter J Shaw,
BMT Unit, Department of Oncology, The Royal Alexandra Hospital for Children, Westmead, Sydney,
Australia
Fanconi’s anaemia (FA) is a well know chromosomal instability disorder with a high risk of developing
acute myeloid leukaemia (AML) and certain solid tumours. The development of AML (M7) in children
with FA is extremely rare. We describe a 14 year old boy with FA who presented to the hospital with an
unexpected high platelet count. The patient was diagnosed with FA at birth with skeletal dysmorphism,
cardiac and kidney anomalies. Chromosomal breakage studies confirmed the diagnosis. He maintained low
blood counts, never required transfusion and a suitable matched unrelated donor was identified, with a
recommendation to proceed to BMT if he became transfusion dependent. His family moved and he was
lost to follow up for 5 years. He represented with a platelet count of 995 x 109/L. Bone marrow evaluation
revealed a blast count of 60% with abnormal megakaryocytes. Flow Cytometry revealed positivity for
CD13 (73%), CD33 (73%), CD41 (69%), CD34 (73%) and CD7 (86%), consistent with AML (M7).
Cytogenetics including FISH was normal and PCR testing was negative for the translocations t(15;17),
t(8;21) and inv16. The literature has many examples of patients with FA and malignancy, but minimal
advice on the treatment of AML in these patients. In the absence of specific information and given the
strong positivity for CD33, therapy was initiated with Gemtuzumab 5mg (3mg/m 2) 14 days apart, whilst
plans were made to reactivate the donor and proceed to urgent BMT. After 2 doses of Gemtuzumab his
count fell to a Hb of 105g/L, White count 0.8 x 109/L and platelets of 122 x109/L. A repeat bone marrow
evaluation revealed a megakaryoblasts of 20%. He had no toxicity related to the therapy and, after some
interim mild chemotherapy, proceeded to BMT. Gemtuzamab provides targeted therapy for AML with
none of the usual side-effects of chemotherapy, making it suitable for use in the setting of FA. After years
of thrombocytopenia, a rising platelet count should prompt an early marrow evaluation to look for
myelodysplasia or AML
HO/09(P) EVALUATION OF THYROID FUNCTION IN PATIENTS OF THALASSEMIA
MAJOR
Rajwanti K Vaswani
Deptt of Pediatrics, Seth G. S. Medical College and K.E. M. Hospital, Mumbai-400012
Introduction: Aggressive transfusion regimen has played an important role in prolonging the lifespan of
patients of thalasemia major resulting in awareness of late complications. Growth abnormality is a
commom complication in thalassemics and is attributed to various factors; one of them being thyroid
hormone dysfunction. Objectives: To evaluate thyroid function in a cohort of children with transfusion
dependent beta thalasemia , study its role in growth failure and to assess the correlation between the degree
of iron overload and thyroid function. Design: Prospective study Setting: Pediatric ward of a tertiary care
center. Methods: Fifty thalassemic patients receiving regular transfusions for last 5 years were investigated
together with ten age and sex matched controls. Physical growth was expressed by height and weight
percentiles ( NCHS standards) and skeletal maturation was assessed by radiographs of wrist and
elbow.Thyroid function was assayed estimated using radioimmunoaassay. Pearson’s chi-square test and
the unpaired ‘t’ test were used to analyze the results. P value < 0.05 was considered significant. Results: Of
50 thalassemic patients, hypothyroidism was detected in 18% of the cases .Significant growth retardation
was seen in cases than in the controls. Weight age was more retarted than the height age. Thyroid
dysfunction correlated well with liver span (increased) and serum ferritin (high) while spleen size, total
units of blood transfused were not associated. Conclusion: There is a high prevalence of subclinical
hypothyroidism in patients of thalassemia major and it is also related to the degree of iron overload
determined by large liver span and high serum ferrritin. Early chelation can reduce the incidence of
hypothyroidism.
HO/10(O) GRANULOCYTE TRANSFUSION IN PEDIATRICS.
Shrishu.R.Kamath, Suresh Babu , V. Lakshmanan,.Revathy Raj
Apollo Hospitals , Greams Road , Greams Lane , Chennai-600 006
Introduction: Prolonged neutropenia is a major risk factor for development of severe bacterial and fungal
infections in children undergoing stem cell transplantation and chemotherapy for malignant disorders.
There has been renewed interest in granulocyte transfusion due to better donor preparation, newer facilities
for separating blood components and aggressive chemotherapy schedules resulting in prolonged
neutropenia. This study was done to analyse the benefits and outcome of this adjuvant modalityType of
study: Retrospective chart review.Place of study: PICU (Paediatric Intensive Care Unit) and BMT (Bone
marrow transplantation) unit of a tertiary hospital. Inclusion criteria: All children with severe neutropenia
causing sepsis, who failed to show defervesence despite aggressive antibiotic and hematopoietic factors
managementMaterials and methods: Eleven children were included in the study. The male to female ratio
was 2.6:1. Three children had granulocyte function disorder, 1 child had severe aplastic anaemia where as
remaining 7 children had malignant disorders. Among the children with malignant disorders, 4 children had
acute myeloid leukaemia of which 2 children had it due to myelodysplastic disorder. Two children had
acute lymphoblastic leukaemia and 1 child was post bone marrow transplantation for neuroblastoma.
Granulocyte transfusion was initiated when ongoing optimal therapy failed to improve the sepsis and
neutropenia. A total of 30 units of granulocyte transfusion was used and collected from
dexamethasone(8mg) primed donors. Resolving neutropenia and improving sepsis were considered
endpoints for stopping granulocyte transfusion. Six children survived with the above measures. Children
with granulocyte dysfunction showed better outcome than children with malignancy. No complications
related to the transfusion were seen. Conclusion:Granulocyte transfusion may have a role as adjuvant
therapy in treatment of severe neutropenia causing sepsis.The outcome is better when granulocyte
transfusion is used in children with granulocyte dysfunction and overwhelming sepsis.
HO/11(P) GLUCOSE-6 PHOSPHATE DEHYDROGENASE DEFICIENCY
Rajiv Kumar, Nomeeta Gupta
Department of Pediatrics, Batra Hospital & Medical Research Centre, New Delhi-110062.
G-6-PD (Glucose-6-phosphate dehydrogenase) is an enzyme present in the RBC. Deficiency of this
enzyme leads to shortening of the red-cell life span and hereditary non-spherocytic hemolytic anemia. It is
inherited as an X-linked disorder. Case Report: A six years old male child born of third degree
consanguineous marriage presented with fever for 10 days and high colored urine for 5 days. On
examination, he had pallor, icterus and hepatosplenomegaly. He had bradycardia and basal crepitations
suggestive of congestive cardiac failure. He had been treated with chloroquine 5 days back by a private
practitioner for his fever. A clinical diagnosis of pyrexia with acute hemolysis was considered. His
hemoglobin was 4.4 gm% with a WBC count of 10,400/cumm and platelet count of 4, 72,000/cumm. His
reticulocyte count was 5.1% with corrected reticulocyte count of 1.7%. His serum bilirubin was 1.5 mg/dl
with indirect bilirubin of 0.9 mg/dl. His liver enzymes were normal with direct coombs test and indirect
coombs test being negative. A urine routine examination showed 40-50 pus cells with absent bile salts and
bile pigments. Urine culture did not show any organism. Ultrasound of the kidneys showed normal kidney
sizes with bright echotexture. He was screened for G-6-PD deficiency, which was low. The parents were
negative for G-6-PD deficiency. Thus a diagnosis of urinary tract infection with G-6-PD deficiency was
considered with acute hemolysis due to chloroquine ingestion. He was treated with IV cefotaxime for his
UTI and required blood transfusions for anemia. He was advised to avoid antimalarials, sulpha drugs,
chloramphenicol, nitrofurantoin, nalidixic acid and Vitamin K due to his G-6-PD deficiency state. He was
discharged with iron supplements. On follow up after 1 month, his hemoglobin was 12gm%.
HO/12(P) NEONATAL PURPURA FULMINANS IN THREE CONSECUTIVE BABIES OF A
FAMILY—DIAGNOSIS AND MANAGEMENT
Sona Chowdhary,Uma Khanduri,Rajeev Arora
Department of Pediatrics,St. Stephen's Hospital,Tis Hazari,Delhi-54
Background Neonatal purpura fulminans is a manifestation of thromboembolic phenomenon. It may have a
varied aetiology ranging from infections, NEC, congenital viral disease to the uncommon hereditary
thrombotic disorders.Infants with this condition in clinical practice, are commonly assumed to be due to
sepsis. Aim To present a series of babies born to the same parents with neonatal purpura fulminans and
report their aetiological diagnosis and outcome. FIRST BABY: boy , born of a non consangiious marriage
at term, was found to be normal at birth. In the early neonatal period he developed black coloured patches
over the body. A diagnosis of sepsis and DIC was made though the blood cultures were sterile, but died at
22 days despite treatment. SECOND BABY: A boy born at term by LSCS. No abnormality was found at
birth but developed black patches, similar to the first baby, on fourth day of life. He was extensively
worked up and was found to have Protein C activity level of 0% which increased to 16% at about 1 year of
age. He was managed with repeated FFP transfusions and warfarin,but succumbed at 16 months. THIRD
BABY: Girl, born at our hospital at term by LSCS. Physical examination at birth showed no
abnormality.On third day of life, she developed necrotic patches over skin over both the trochanters,
despite prophylactic FFP transfusion.. Sepsis screen was negative and coagulation profile was within
normal limits. Protein C levels were found to be only 39%. She came back at 15 days of life with necrotic
skin patches over abdomen.She remains on follow up with FFP transfusions,heparin and warfarin.
Conclusion Neonatal purpura fulminans should be extensively worked up so that the rare aetiology which
may have a serious implication on the final outcome of the baby is well recognized.
HO/13(O) UTILITY
OF IMMUNOPHENOTYPING IN ACUTE LEUKEMIAS – AIIMS
EXPERIENCE
T.Seth, J Wadhwa, Bk Mohanti, A Ranjan,
Depts Medical Oncology, Radiotherapy, AIIMS, New Delhi
Objectives: Medulloblastoma in children over 3 years, is treated with a combination of surgery,
radiotherapy and chemotherapy. Long-term sequelae include growth retardation, reduction in IQ and
hypothyroidism. The appropriate dose of radiation to the craniospinal axis in combination with
chemotherapy for low-risk medulloblastoma remains to be defined. Methods: We studied low risk
medulloblastoma patients (greater than 3 years, residua <1.5cm2 and no neuraxis involvement) who were
given 23.4 Gy neuraxis irradiation followed by posterior fossa (PF) boost to 50.4-55.8 Gy and
chemotherapy consisting of vincristine (VCR) weekly during RT. This was followed by VCR, cis-platinum
(CDDP), and lomustine (CCNU) for eight, 6-week cycles. The patients were staged by post-operative
contrast CT, MRI and CSF cytology. Baseline eye, auditory examination, thyroid function and (a) The
Malin’s Intelligence scale for Indian Children (MISIC) (b) Schonell Attainment Test for reading, spelling
(c) Aston Index- auditory sequential memory, visual perceptual skills (c) Brigance (IBS) to test listening
and reading comprehension were performed. 4 patients, ages 7-11 years, were treated on this protocol and
evaluated for relapse free survival by repeated MRI every 3 months. Results: Median follow up of 14
months, chemotherapy course complicated by myelosuppression, thrombocytopenia requiring
chemotherapy delay in all patients. No relapses to date, two patients have cerebral atrophy (due to long
standing hydrocephalous). IQ scores showed a mean reduction of 6 points, (not significant), other reading
and comprehension parameters were age appropriate. Hypothyroidism was found in the 7 year old child,
however this complication has been reported to occur late. Conclusion: reduced dose chemotherapy to the
neuraxis can be tried, to decrease long term sequelae in children, however meticulous planning is required.
Preliminary data suggests that this may be feasible, however long term follow up is required to see relapse
rates and survival.
HO/14(P) SEVERE COMBINED IMMUNODEFICIENCY SYNDROME
Vasundhara Chennuri, Pankaj Parikh,Mukesh Desai, Rakesh Shah
Sir H N Hospital & Research Centre, Mumbai 400004
Introduction: Severe combined immunodeficiency is the most severe of all recognised immunodeficiencies
caused by diverse genetic mutations which lead to absence of all adaptive immune finction . The
phenotypic variations are 1] ( T - B- NK +)both T and B lymphocytes are deficient but natural killer cells
(NK) are normal( RAG1 and RAG2 gene defects ). 2] (T-B+NK+) T lymphocytes are deficient however B
lymphocytes and NK cells are normal (IL7R receptor or CD 45 deficiency 3](T-B-NK-) all three cells are
deficient ( adenosine deaminase deficiency. Case :A 5 month old female child born of third degrre
consanguinous marriage presented with repeated episodes of upper respiratory tract infection, diarrhea,
oral thrush and failure to thrive since 2 months of age.During the diarrhea episodes stools showed evidence
of pus cells ( 40 - 50 cells per low power field). There was evidence of rectovaginal fistula with perianal
tags . Papular lesions over the face , trunk, and groin suggested disseminated candidiasis. She had persistent
leucopenia ( absolute neutrophil count < 1500/cmm and absolute lymphocyte count less than
2000/cmm)Mother tested negative for HIV ELISA. The X- ray chest showed an absence of normal thymus
shadow. The stool in additon to showing pus cells ( 40-50 per low power field) grew E. coli.The serum
levels of IgA, IgE and IgM were normal. The CD3, CD4, CD8 ( T cell markers) , CD19 ( B cell marker)
line age lymphocytes were depleted { CD3 = 25/cmm ( N = 1375 - 3769), CD 4 =25/cmm ( N= 174 1388), CD8 = 4/cmm ( N = 231- 2394), CD 19 = 2/cmm ( N = 739 - 2353). The CD 56 ( NK cell marker)
levels were normal.The above cliical picture and investigations ( persistent lymphopenia ) clinched the
diagnosis of SCID (T - B + NK + ) type.Parents were counselled for bone marrow replacement for the child
but they refused. Conclusion : Infants with SCID have lymphopenia ( < 2000) at birth . If routine white
blood count and differential count were done on cord blood at birth they could be easily detected. This is a
true pediatric emergency and unless immunologic reconstitution in the form of bone marrow transplant is
done at the earliest ,death is inevitable, usually by the end of one year.
HO/15(P) PSYCHOSOCIAL STATUS AND PAIN SCORE INTHAL
Bhavan, Nilesh Patel, K. M. Mehariya, Deepak Panday
Deptt. of Pediatrics, M. P. Shah Mediacal College, Jamnagar –361008
Introduction : Many frequently transfused thalassemic children remain under chronic duress due to
repeated painful events and other factors like loss of schooling limitation of physical activity, distorted
body features. Quantification and management of pain as also pyschosocial support in those significantly
affected may substantially reduce the misry of these patients the study is conceived to quantify these
problems and need for intervention. AIMS & OBJECTIVES : To measurs magnitude of pain, to identify
the need for psychosocial councelling and pain management in thalassemia major patients. MATERIALS
AND METHODS : 71 childrens 5 to 18 years old, thalassemics receving blood transfusions in thalassemia
were recruited for the study EXCLUSION : CRITERION: single parent chronic illness in family members
chronic comorbidity, Child abuse. After rapport building data was collected by a structured interview
CHILDHOOD PSYCHOPATHOLOGY MEASUREMENT SCHEDULE :(SAVITA MALHOTRA, 1984)
was use for screening pain was measured using VISUAL ANALOG SCORE. RESULTS: 34% subjects
tested positive for psychopethology with 18 of 47 in 5 to 10 years of age group incidence of positive CPMS
was greater in school drop outs and those who received no schoolling 72% subjects had pain score more
than 50 incidence of cpms was signigicantly higher in those with pain score more than 10 majority of them
have on set of psychopathology atleast as eaely as 2 nd half of 1st decade of life as against most other
comrlications of thal major.pain managemeant should be considered in all such patients and adequate
psychosocial support should be provided to the affecated
HO/16(P) PARAPARESIS WITH CHEST WALL MASS: UNUSUAL ETIOLOGY.
Keya R Lahiri, Mihir Bapat, Chaitali D. Warang, Rajwanti K. Vaswani, Milind S.Tullu, Rachna Kalra
Department of Pediatrics, Seth G.S.Medical College and King Edward Memorial Hospital, Parel, Mumbai,
400012
Introduction: Primitive neuroectodermal tumors of childhood are a heterogeneous group of rare tumors of
neural crest origin (8% childhood cancers). Case 1: An 11-year-old girl presented with acute weakness in
lower limbs & urinary retention. On examination, she had paraplegia & hypotonia in lower limbs. There
was no local tenderness over spine. There was reduced air entry in left interscapular area. Chest radiograph
revealed well-defined rounded homogenous opacity in left hemithorax, no calcifications, or rib erosions
noted. MRI revealed tumor mass with intense post contrast enhancement, extending D4 to D10 levels &
displacing the thecal sac. In view of rapid progression, she underwent surgery for tumor resection.
Histopathology revealed nests of small round cells with necrosis & immunohistochemistry showed
presence of MIC 2 & NSE (neuron specific enolase), suggestive of Askin’s tumor. Case 2: A 5-month-old
female presented with respiratory distress since day 7 of life, paucity of movements of lower limbs &
distension of abdomen for 2 months. She had generalized lymphadenopathy and a soft, fusiform swelling
in right thoracolumbar region, hepatoslenomegaly and paraparesis. Chest radiograph revealed paravertebral
soft tissue mass with punctate calcification. CT Chest revealed mass arising from the adrenal fossa with
calcification, extending to the chest wall & spine, suggestive of Neuroblastoma. Urinary VMA was
elevated. Bone marrow examination was normal. She was started on chemotherapy. Discussion: PNETs
are characterized by nests of less differentiated small round cells with scanty cytoplasm and darkly staining
nuclei on histopathology. Immunohistochemical & cytogenetic markers confirm that these tumors have
common histogenesis & genetic aberration. Age of presentation varies (infants to adolescence). They have
insidious onset with paravertebral or chest wall mass,& may also have respiratory or neurological
manifestations. These tumors metastasize to the other skeletal sites, marrow, and lung. Therapy is
multimodality based including surgery, chemotherapy and radiotherapy. Conclusion: A high index of
suspicion is required to detect these rare tumors which otherwise have a guarded outcome. Early diagnosis
& therapy are essential to improve survival.
HO/17(P) PYRUVATE KINASE DEFICIENCY: A CASE REPORT
Nomeeta Gupta, Rajiv Kumar, Deepali Gaur, Vijay Arya
Department of Pediatrics, Batra Hospital & Medical Research Centre, New Delhi-110062.
Erythrocyte pyruvate kinase (PK) deficiency is a rare cause of neonatal hyperbilirubinemia. We report an
infant with neonatal hyperbilirubinemia due to PK deficiency. The initial approach involved rapid
evaluation, phototherapy and close monitoring of serum bilirubin levels. Case Report: A male baby referred
to our tertiary level NICU with history of meconium stained liqor and respiratory distress at 6 hours of life.
He was born to a multigravida mother at term, weighing 2.9 Kg, by normal vaginal delivery following an
uneventful pregnancy and labor. There was no significant antenatal history. There was past history of
intrauterine death. On examination, he was sick, tachypneic and had mild pallor with icterus. The heart rate
was 110/minute; respiratory rate was 64/minute with recession. Intrauterine congenital infections, G-6-PD
deficiency and pyruvate kinase deficiency were suspected. Laboratory investigations revealed Hb 8.1 gm%,
TLC 24,230/mm3 with 73% neutrophils, 24% lymphocytes, 2% monocytes and 1% eosinophil, ESR 58
mm, reticulocyte count 45% and platelet count 80,000/mm3. PT and PTT were normal. Malarial thick and
thin smears were negative. Total and conjugated serum bilirubin was 14.9 mg% and 4.8 mg% respectively.
Liver enzymes were elevated. Serum electrolytes were normal. Serological tests for VDRL, syphilis and
HIV were negative. Hepatitis B surface antigen and hepatitis C antibody were negative. CMV IgG and
HSV IgG were positive. G-6-PD level was normal. He was evaluated for hemolytic disease of newborn.
Direct and indirect Coomb’s test was negative He developed jaundice and double volume exchange
transfusion done on first day of life. Post-exchange laboratory investigations revealed Hb 10.4 gm%, total
serum bilirubin 6.4 mg%, conjugated serum bilirubin 2.7 mg% and serum calcium 10 mg%. He was started
on intravenous fluids, IV antibiotics; packed cells transfusion and intensive double surface phototherapy
were given. He was discharged after 7 days of admission. At the time of discharge, the infant was clinically
better and there was mild icterus. Total and conjugated serum bilirubin was 5.8 mg% and 2.1 mg%
respectively; Hb 13.6 gm% and reticulocyte count 26%. He was tolerating feeds well. A quantitative
pyruvate kinase screening was done at age of 2 months. The child was diagnosed as a case of pyruvate
kinase deficiency.
HO/18(P) THALASSEMIC CHILDREN – INITIAL
THALASSEMIA CENTRE.
Peeyush Jain, R P Mathur, Dinesh Negi, Preeti, Madhu Jain
Thalassemia Day Care Center, Kasturba Hospital, Delhi-6
EXPERIENCES
FROM
A
NEW
Thalassemias are one of the commonest group of chronic disorders needing repeated blood transfusions.
Specialized thalassemia centers are however few in number. One such Thalassemia day care center was
started in Kasturba Hospital, Delhi in Jan 2004. The demographic profile, clinical features and followup of
the registered children is being presented. Thirty three thalassemic children with a mean(sd) age at
presentation of 4.58(3.3) yrs with M:F ratio of 2.1:1 are receiving regular blood transfusions. The children
were predominantly from Hindu(48.5%), Muslim(35.5%) or Punjabi(9.7%) families. The mean(sd) age at
diagnosis was 13.7(11.6) months with an age range of 3-48 months. One third (10) of the patients had been
diagnosed at or before the age of 6 months. Twenty six (83.8%) patients had been receiving transfusion
before coming to the center for a median(range) duration of 32(6-113) months. At least 1/5th (6) of the
patients had hepatosplenomegaly of moderate degree at presentation. At the center the children have been
given median(range) of 27(2-37) transfusions at a median(range) interval of 0,75(0,5-2.4) months. The
ferretin levels (mean(sd)) were 2067.9(1107.9) ng/ml after transfusions for mean duration of 48.4 months.
None of the children had any major transfusion reactions. Knowledge regarding thalassemia in the
perspective of its high incidence in this region and. ease of blood transfusions is important for early
diagnosis and management of the disease.
HO/19(O) THYROID FUNCTION AND ITS ROLE IN GROWTH FAILURE IN CHILDREN
WITH THALASSEMIA MAJOR
Rajwanti . K. Vaswani ,
Vishal . O. Mukhija
Deptt of Pediatrics, Seth G. S. Medical College and K.E. M. Hospital, Mumbai-400012
Introduction: Growth abnormality, a common complication in children with thalassemia major is attributed
to various factors ; one of them being thyroid hormone dysfunction. However exact association has not
been established. Objectives: To assess thyroid function in children with thalassemia major, study its role in
growth failure and to assess the correlation between the iron overload and thyroid function. Design:
Prospective study Setting: Pediatric ward of a tertiary care centre. Methods: Fifty thalassemic patients
recieving regular transfusions for last 5 years were investigated together with ten age and sex matched
controls. Physical growth was expressed by height and weight percentiles (NCHS standards) and skeletal
maturation was assessed by radiographs of wrist and elbow. Thyroid function was assayed using
radioimmunoassay. Pearson’s chi-square test and and unpaired ‘t’ test were used to analyse the resuts
Results: Of 50 thalassemic patients, subclinical primary hypothyroidism was detected in 18% of cases. A
stastical significant correlation (p<0.05) between hypothyroidism and serum ferritin levels was observed.
Likewise, there existed a significant correlation (p<0.05) between hypothyroidism and liver span. Weight,
height and bone ages were significantly retarded (p<0.001) in all cases as compared to chronological age.
Weight age and height age were markedly retarded in hypothyroid cases yet the difference was not
stastically significant. However there was a significant difference (p<0.05) in the bone age retardation in
thalassemics with hypothyroidism. Conclusion: There is a high prevalence of subclinical hypothyroidism in
children with thalassemia major but it is not the sole cause of growth failure. A significant correlation
between reduced thyroid function and iron overload emphasizes the need of intensive chelation therapy.
HO/20(P) MATCHED UNRELATED BMT IN A CHILD WITH FANCONI ANAEMIA WITH
AML (M7)
Nalini K Pati, Peter J Shaw,
BMT Unit, Department of Oncology, The Royal Alexandra Hospital for Children Westmead, Sydney,
Australia
Fanconi anaemia (FA) is an autosomal recessive chromosomal instability disorder, which is characterized
by congenital abnormalities, defective haemopoiesis and a high risk of developing acute myeloid leukaemia
(AML) and certain solid tumours. However the experience in world literature in Fanconi anaemia patients
with AML proceeding to transplant is rare. We describe a 14 year old boy diagnosed as Fanconi’s anaemia
at birth, and presented to the hospital with high platelet count. This child was diagnosed as Fanconi’s
anaemia at birth with multiple birth defects-Skeletal dysmorphism including Poly dactyly, facial bone
hypoplasia and various other malformations like PDA, VSD and abnormal kidneys. Cardiac malformations
were repaired in infancy. A detailed genetic work up was done including chromosomal breakage study with
mitomycin C and diepoxy butane which had confirmed the diagnosis of Fanconi anaemia. He was
followed up in the Haematology clinic. Though he was maintaining low blood counts, but never required
transfusion in childhood. He was suggested for a matched unrelated BMT at the age of 8 years but
unfortunately was lost to follow up for 5 years. He came to the hospital with easy fatigability and a platelet
count of 995 thousands. Bone marrow evaluation revealed a very high blast count of 60% with abnormal
looking megakaryocytes all through out. Flow Cytometry was showing positive markers for CD13-73%,
CD33-73%, CD41-69%, CD34-73%, CD7-86%, CD10-2%, and CD19-20%; which is consistent with AML
(M7). Cytogenetic study including FISH was normal. Molecular study was negative for the translocations-t
(15; 17), t (8; 21), Inv16. Since he had a high positive marker for CD 33, the therapy was initiated with 2
doses of Hydroxy Urea and the anti CD 33 monoclonal Antibody (Gemtuzumab).A urgent planning was
made for the MUD BMT. After 2 doses of Gemtuzumab his platelet count became normal. Considering the
persistence of high leukaemic load in the marrow, he was given one cycle of mini FLAG prior to his stem
cell transplantation. He tolerated the conditioning chemo therapy well and doing fine through his Bone
marrow transplantation.
HO/21(P) AN UNUSAL CAUSE OF ABDOMINAL MASS IN CHILD
Anup Mohta, Rajeev K Singh, Sunil Kumar
Guru Teg Bahadur Hospital and associated University College of Medical Sciences, Dilshad Garden, Delhi
Aim: To present a case of unusual cause of mass abdomen in a child. Mehtods: A nine years old girl was
admitted to the hospital with complaint of fever, weakness, failure to thrive and lump in the right side of
upper abdomen. She had severe anaemia, raised erythrocyte sedimentation rate and increased γ-globulins
with hypoalbuminaemia. Radiological investigations revealed a soft tissues retroperitoneal mass.
Ultrasound guided aspiration cytology suggested a lymphoid neoplasm but the definitive preoperative
diagnosis could not be confirmed. Results: Histopathology of the surgically resected mass from transverse
mesocolon showed plasma cell type of Castleman’s disease. Conclusion: Diagnosis of Castleman’s disease
requires a high degree of suspicion in children presenting with mass abdomen.
HO/22(O) A 5 YEAR REVIEW OF CLINICAL PROFILE IN HSP
Naveen Sankhyan, Neelam Grover , J P Bist
Deptt. of Pediatrics, Indira Gandhi. Medical College,Shimla,HP,171001
Objectives; To study the presentation and course of Henoch Schönlein purpura [HSP] Methods; In a
retrospective analysis of 5 years, 30 children with HSP were studied with special reference to clinical
presentation. Results; Data of 19 boys and 11girls with a mean age of 10.45 years was reviewed. Two
thirds of cases presented during fall, winter & spring.One third of children lacked purpura at onset.
Palpable purpura involved both upper and lower limbs in 60% cases. Subcutaneous edema was seen in
4(13.3%) patients and scrotal edema in 4 boys. The mean duration of appearance of skin lesions after
preceding joint and gastrointestinal symptoms was 8.6 days and 6.6 days respectively. Abdominal pain was
the most common GI symptom, observed in 87.5% of those with GI involvement. Joint involvement
manifested as arthritis in 13 and equal number had arthralgias. Knee & ankle involvement occurred in more
than 3/4th of the patients with arthritis. Seizures occurred in 2 patients, focal CNS signs, intussception &
fundal bleeds in one each. Renal involvement manifested as hematuria in 5 and proteinuria in 7 children.
Anti Streptococcal O (ASO) titer of 200 IU or more were detected in 10 patients. Atypical manifestations
included vesciculobullous lesions in 2 patients and one patient with Rheumatic fever. Eventually purpura
appeared in 100% of patients, joints were involved in 26 (86.7%), GIT in 24(80%), Kidney in 9(30%) &
CNS in 3(10%). Conclusions; Most children with HSP will have classical manifestation of the disease but
diagnostic confusion can occur in those with atypical or absent cutaneous features at the onset.
HO/23(O) A STUDY OF THE CLINICAL AND HISTOPATHOLOGICAL PROFILE OF
PEDIATRIC CENTRAL NERVOUS SYSTEM TUMORS.
Sharma P, Mahajan A, Gupta V B, Mehra S.
Apollo Centre for Advanced Pediatrics, Mathura road, New Delhi
CNS tumors are the 2nd commonest malignancy in childhood. Improvements in neuroimaging, surgical
techniques, radiotherapy and induction of newer chemotherapeutic agents have significantly improved
survival in these children. There is however limited information on the profile of CNS tumors in children
in India. Objective: To study the clinical and histopathological profile of CNS tumors in children
presenting to a tertiary level hospital. Methods: Data was collected from all patients aged 0-18 years
managed at our center from April 2002 to August 2005. Specific information was collected regarding age,
sex, radiological and histopathological findings. Modalities of management and median duration from
onset of symptoms to diagnosis were also analyzed. Results: The data of 60 patients who were managed
during this period. at our center was obtained The most common clinical presentation was headache. The
median age of presentation was 10 years with a male: female ratio of 2:1. Infratentorial tumors constituted
the majority with 36(60%) patients. The distribution of tumors was as follows: Brain stem glioma 16(26%),
Medulloblastoma 9(15%), Astrocytoma 11(18%) and Others 24(40%). The median duration from onset of
symptoms to diagnosis was 7.5 months. At a median follow up of 2 years, 2/3(40%) of the patients were
alive with minimal sequelae. Among the patients who died 80% were diagnosed as Brain stem glioma. Out
of 60 patients 22(36%) received radiotherapy and 18(30%) received both chemotherapy and radiotherapy.
Conclusions: Despite classical and frank symptoms, there was a definite delay in the diagnosis of the
tumors. Infratentorial tumors were commoner than supratentorial tumors. The most common tumor and the
most common cause of mortality in our study was Brain stem glioma.
HO/24(P) ACQUIRED APLASTIC ANAEMIA IN CHILDHOOD:CLINICOHAEMATOLOGICAL
PROFILE AND THERAPEUTIC LIMITATIONS
V.Gupta, V.Tilak, B.D.Bhatia
Department of Paediatrics & *Pathology, Institute of Medical Sciences, Banaras Hindu University,
Varanasi-221005
Objectives: To study clinicohaematological profile, therapeutic options and survival outcomes in children
with acquired aplastic anaemia. Methods: Prospective study. 30 children of acquired aplastic anaemia who
fulfilled the following inclusion criteria: (a) Haemoglobin (Hb) < 10gm/dl & reticulocyte count <
50000/cmm (b) neutrophil count < 1500/cmm and (c) platelet count < 100000 /cmm were included in the
study. The treatment options were grouped into (a) only supportive treatment (b) oral cyclosporine (Cy)
and (c) Cy and anti thymocyte globulin (ATG). Children were followed to a maximum period of 15
months. Results: The mean age of the children was 7.8 years (Range 2-15 years) with a M: F ratio of 5:1.
The mean Hb was 3.3 gm/dl (Range 2-6 gm/dl). The mean total leucocyte count, absolute neutrophil count
and absolute platelet count were 2800/cmm , 600/cmm and 25300/cmm respectively. Four cases were lost
to followup after initial diagnosis. 14 patients received only supportive treatment and expired within 6
months due to either infection or intracranial haemmorhage. 11 patients received only Cy monotherapy of
which 3 patients showed partial recovery while remaining 8 patients did not show any improvement. One
patient received both Cy and ATG and showed partial response but relapsed after 6 months. Conclusion:
The incidence of acquired aplastic anaemia in this region is high. The therapeutic options are limited due to
financial constraints and therefore the prognosis is poor.
HO/25(O) LATE HAEMORRHAGIC DISEASE OF THE NEWBORN AND VITAMIN K
PROPHYLAXIS
Anila Chacko, Leni G Mathew, Indira Agarwal, Prabhakar D Moses
Dept of Child Health, Christian Medical College, Vellore – 632004
Objectives: To assess the clinical features, morbidity and mortality of Late Haemorrhagic Disease of the
Newborn (LHDNB), and to make recommendations to reduce its incidence at a national level. Materials &
Methods: Clinical case series of children presenting with LHDNB, over a period of 5 years to a tertiary care
center. Inpatient and outpatient charts of 50 children (33 boys and 17 girls) admitted with LHDNB were
reviewed and analyzed, with respect to history of Vitamin K administration, clinical manifestations,
outcome, and status at follow up. Results: Of the 36 babies whose gestational age was documented or
known, 32 (89%) were born at term. The median age at presentation was 36 days. The mean duration of
symptoms was 3.5 days. 7 children had received one dose of oral Vitamin K and one child an intramuscular
dose. 39 parents (78%) were either not aware about administration of Vitamin K or the data was not
recorded. 3 parents were sure that they had not received Vitamin K. The common sites of bleed were
intracranial (46%), injection sites (40%), umbilicus (32%) and gastrointestinal (24%). All children were
treated with Vitamin K and blood products. Antibiotics were started in 33 (66%) till sepsis was ruled out. 8
(16%) children were either discharged in a moribund condition or died. One-third of the survivors were
followed up for less than a month. Of the remaining two-thirds, 7 children were documented to have
developmental delay. Conclusions: 14% of babies in our series developed LHDNB in spite of oral and
parenteral Vitamin K administration. There is a need for prospective studies in India to assess protective
efficacy of single-dose IM Vitamin K versus multi-dose oral Vitamin K in preventing LHDNB.
HO/26(O) OUT COME OF MEDULLOBLASTOMA TREATED WITH A COMBINATION OF
CHEMOTHERAPY AND REDUCED RADIOTHERAPY-PILOT STUDY
T.Seth, J Wadhwa, Bk Mohanti, A Ranjan,
Depts Medical Oncology, Radiotherapy, AIIMS, New Delhi
Objectives: Medulloblastoma in children over 3 years, is treated with a combination of surgery,
radiotherapy and chemotherapy. Long-term sequelae include growth retardation, reduction in IQ and
hypothyroidism. The appropriate dose of radiation to the craniospinal axis in combination with
chemotherapy for low-risk medulloblastoma remains to be defined. Methods: We studied low risk
medulloblastoma patients (greater than 3 years, residua <1.5cm2 and no neuraxis involvement) who were
given 23.4 Gy neuraxis irradiation followed by posterior fossa (PF) boost to 50.4-55.8 Gy and
chemotherapy consisting of vincristine (VCR) weekly during RT. This was followed by VCR, cis-platinum
(CDDP), and lomustine (CCNU) for eight, 6-week cycles. The patients were staged by post-operative
contrast CT, MRI and CSF cytology. Baseline eye, auditory examination, thyroid function and (a) The
Malin’s Intelligence scale for Indian Children (MISIC) (b) Schonell Attainment Test for reading, spelling
(c) Aston Index- auditory sequential memory, visual perceptual skills (c) Brigance (IBS) to test listening
and reading comprehension were performed. 4 patients, ages 7-11 years, were treated on this protocol and
evaluated for relapse free survival by repeated MRI every 3 months. Results: Median follow up of 14
months, chemotherapy course complicated by myelosuppression, thrombocytopenia requiring
chemotherapy delay in all patients. No relapses to date, two patients have cerebral atrophy (due to long
standing hydrocephalous). IQ scores showed a mean reduction of 6 points, (not significant), other reading
and comprehension parameters were age appropriate. Hypothyroidism was found in the 7 year old child,
however this complication has been reported to occur late. Conclusion: reduced dose chemotherapy to the
neuraxis can be tried, to decrease long term sequelae in children, however meticulous planning is required.
Preliminary data suggests that this may be feasible, however long term follow up is required to see relapse
rates and survival.
HO/27(P) HAND SCHULLER CHRISTIAN DISEASE- A CASE REPORT
Dipankar Gupta, Megha Consul,Rajesh Mehta
Department of Paediatrics,Safdarjung Hospital and VMMC,New Delhi
Langerhans cell histiocytosis is a rare entity. A five yr old girl presented to the medical facility with
complaints of polyuria, polydipsia and multiple depressed lesions on the skull noticed 3 months back. No
history of trauma, drug intake, radiation exposure or any other significant illness in past was present.
General physical examination revealed Rt. Sided exophthalmos with normal ocular function and
movement, depigmented macular lesions on forehead were seen. Skull had multiple depressed bony lesions
with irregular margins. Systemic examination was unremarkable except for mild hepatomegaly. On
investigations all routine hematologic work up was within normal limits. X-ray skull showed multiple lytic
lesions in both frontal and parietal areas.3D CT Skull showed irregular bony defect in both frontal, parietal
and Rt ethmoidal region. Bone scan was consistent with increased tracer uptake from above areas only.
Water Deprivation test was consistent with Central Diabetes Insipidus. MRI Brain showed absence of
posterior pituitary bright spot and thickening of infundibulum at its origin (6x7x4.4mm) near the median
eminence. Bone Biopsy showed features of Langerhan’s Cell Histiocytosis consistent with Hand Schuller
Christian Disease variety. With the triad of exophthalmos, diabetes insipidus and lytic skull lesions and
supportive imaging and histopathological findings a diagnosis of Hand Schuller Christian Disease was
made.
HO/28(P) EOSINOPHILIC MENINGITIS: AN UNRECOGNIZED ENTITY!
Powlomi Pai, R.Begue, R.P.Warrier
LSU Health Sciences Center and Children’s Hospital ,New Orleans, LA
Introduction: Eosinophilic meningitis (EM) is a syndrome characterized by the presence of greater than 10
percent eosinophils in the cerebrospinal fluid. It is rare in the U.S. with outbreaks only in travelers
returning from endemic areas and therefore remains a less recognized entity. However, this case
demonstrates the importance of being aware of potential etiologies of EM. Case report: This is a 4 year
old black male with a history of Sickle Cell disease presenting with headaches. This was treated as a pain
crisis, but worsened with development of focal neurologic deficits. An evaluation included a MRI/MRA,
showing cerebellar edema, and a lumbar puncture revealing 55 percent eosinophils. Serologies for
Toxocara canis, Toxoplasma , Lymphocytic choriomeningitic virus, and Mycoplasma were negative.
There was no history of travel, exposure to undercooked snails/mollusks or neurosurgical procedures.
However, there was an exposure to rat and raccoon feces; therefore, serologies for Angiostrongylus
cantonensis and Baylisascaris procyonis were sent and were diagnostic of Bayliascaris.. Empiric treatment
with steroids and albendazole resulted in improvement of the patient’s symptoms and cerebrospinal fluid
findings. Discussion: The most common cause of EM in the pediatric population is ventriculoperitoneal
shunts. Parasitic infections are another cause . Angiostrongylus cantonensis is a rat lung worm endemic to
Southeast Asia and the Pacific Basin. Its larvae infect intermediate hosts like snails and mollusks through
fecal contamination. After ingestion of contaminated food by humans, the larvae invade the meninges and
die, eliciting a eosinophilic response. , Baylisascaris procyonis is an ascarid parasite which is widely
prevalent in raccoons and infects humans in a similar way. Clinical features include fever, headaches,
visual disturbances, and neurologic deficits. Conclusion: EM is a syndrome with multiple etiologies,
including parasitic infections. Although rare, the worldwide prevelance of these organisms should have
clinicians maintaining a high index of suspicion.
HO/29(P) ACUTE LEUKEMIA AFTER GENE THERAPY FOR SCID
Malini Dave, Raj Warrier, Maria Velez, Lily Levia, Ricardo Sorensen.
LSU Health Sciences Center /Childrens Hopsital, New Orleans, LA
Severe combined immunodeficiency (SCID) is an inherited immune disorder characterized by T-cell
lymphopenia and profound lack of cellular and humoral immunity.The treatment for SCID is immune
reconstitution, which includes hematopoietic stem cell (HSCT) transplantation or gene therapy. The
disadvantage of HSCT is the need of an HLA matched donor. Gene therapy with genetically modified
autologous cells offers a cure for X-SCID with significant immune reconstitution. The disadvantage is the
possibility of leukemogenesis. Of ten infants with X-linked SCID treated with gene therapy in Paris,
France, three developed T-cell leukemia. Case report: A 3-year-old Caucasian male was diagnosed with XSCID at birth by lymphopenia and an absent thymus. A missense mutation of IL-2R gamma C gene was
identified at NIH. He received gene therapy at 3 months of age. Within 3 months, the lymphocyte count
increased with normal number of T and B cells. Thirty-four months after treatment, the patient showed
hyperleukocytosis, anemia, thrombocytopenia, and lymphoblasts on peripheral smear. Bone marrow
biopsy confirmed T-cell leukemia with trisomy 10. He was treated with chemotherapy as per COG
protocol and has been in complete, continuous remission for 3 years and is cuurently off treatment. He has
not had any unusual episodes of sepsis or infection except one of Herpes Zoster controlled By Acyclovir
after completion of chemotherapy. The development of leukemia in three children has raised concerns
regarding the safety of gene therapy utilizing integrating vectors. Studies have been conducted using nonhuman primates and dogs. None developed abnormal hematopoesis or leukemia. This may suggest that
retroviral integrations using replication-incompetent vectors are unlikely to result in leukemogenesis and
that patient or transgene specific factors most likely contributed to the occurrence of leukemia. Gene
therapy is clearly a feasible therapeutic option for SCID, though it has also raised important questions
regarding the long-term outcome.
HO/30(P) ACUTE NECROTIZING ENCEPHALITIS IN SICKLE CELL DISEASE - THE
ASSOCIATION WITH MYCOPLASMA PNEUMONIAE INFECTION AND ACUTE CHEST
SYNDROME.
KL Nelson, MD, R Warrier, MD, C Arcement, MD. Departments of Pediatric Hematology/Oncology and
Radiology, Louisiana State University and Children’s Hospital, New Orleans, LA.
Sickle cell disease has several vascular complications that are well known , with the most feared being a
cerebrovascular accident or stroke. Unfortunately, many sickle cell patients who have suffered a stroke
bear the the long-term sequelae, the most noted being hemiparesis. Symptoms that herald the onset of a
stroke include headache, seizure, speech deficits, visual disturbances and hemiparesis. A stroke may occur
spontaneously, but it may also occur in the setting of pneumonia, acute chest syndrome, aplastic crisis,
priapism, other vaso-occlusive crises and even dehydration, which promotes sickling. However, sickle cell
patients with acute neurologic change in the setting of a recent or concurrent acute chest syndrome without
evidence of stroke on MRI should be evaluated for other causes of central nervous system disease. We
present a 13-year-old who presented to the emergency room with diplopia beginning on the morning of
presentation. He had also been experiencing intermittent frontal headaches and vomiting for two days prior
to presentation. He had been hospitalized for an episode of pneumonia and acute chest syndrome ten days
prior to the onset of these symptoms. The patient developed bilateral sixth nerve palsies soon after
admission. A CT, MRI and MR angiography and venography of the cerebral vessels were all negative for
stroke, as well as arterial and venous thromboses, respectively. A transcranial Doppler ultrasound was also
normal, indicating a low risk for stroke. A subsequent repeat MRI revealed radiologic findings compatible
with acute necrotizing encephalitis, a variant of acute demyelinating encephalopathy. Mycoplasma titers
were positive for a recent infection, and had been negative just ten days prior. Acute necrotizing
encephalitis with specific reference to the relationship to sickle cell disease, acute chest syndrome and
Mycoplasma pneumoniae infection will be discussed with radiological and serological findings.
HO/31(O) THERAPEUTIC EFFICACY OF IRON POLYMALTOSE COMPLEX VERSUS
FERROUS SULFATE IN TREATMENT OF IRON DEFICIENCY ANEMIA
Ankur Vikas Bopche, Navneetha S., Mahendra Jain, G.S. Patel, Rashmi Dwivedi
Tertiary Centre in the Department of Pediatrics, Kamla Nehru Hospital, Bhopal.
Objectives: To compare the clinical response and side effect of ferrous sulfate and iron polymaltose
complex in young children in a randomized clinical trials. Material and Methods: The children with age
group 1 to 6 year with iron deficiency anemia, hemoglobin level 7 to 10 gm were included. Diagnosis was
confirmed by serum iron chemistry. Children were randomized into group-A (Iron polymaltose) and groupB (feuous sulfate). All children were given albendazole and advised to avoid phytates and tannins and were
assessed after 1 month of treatment. Result: 138 Children were enrolled for the study of which 106 could
be followed up. Of them 53 comprised group-A and rest comprised group-B. The difference of
haemoglobin level at the start of the study of the two groups was not statistically significant. At the end of
treatment the children of group-B were having higher hemoglobin level as compared to those of group-A
(T test p<0.05). 26.3% of children had persistent complaints related to Iron deficiency anemia at the and of
therapy in group-A of 3.77% in group-B. Loose motion, constipation, Nausea & black colour stool were
observed in 3.77%, 0%, 0% 3.77% of children in group-A and 7.55%, 1.89%, 3.77% and 7.55% of children
in group B. Conclusion: Ferrous sulfate has a better clinical response as well as more chances of side effect
compared to iron polymaltose complex.
HO/32(O) PARENTAL REACTIONS IN THALASSEMIA MAJOR PATIENTS
Gulgoona Jamal, Anupam Sachdeva, Ashum Gupta, Roma Kumar, VK Khanna, Vinita Jain, SP Yadav
Department of Pediatrics, Center for Child Health, Sir Ganga Ram Hospital
& Department of Psychology, University of Delhi, New Delhi
The relationship between psychology and medicine is often ambivalent. There is often misunderstanding
between the disciplines about their role and responsibilities and by differences in patterns of
communication, charting professional etiquette and approaches towards conceptualizing patient difficulties.
The diagnosis of a chronic illness is accompanied by extraordinary stressors for the child and family that
place them at risk for psychological difficulties associated with the disease and increase their vulnerability
to non disease stressors. The present study investigated parents responses to the diagnosis of thalassemia
major in their children and its treatment, their levels of emotional distress, their perceptions of the effects of
the illness on family life, the support available to them, their unmet needs, the cognitive appraisal strategies
employed and their ability to cope. Relationships between emotional distress and reported effects: support,
unmet needs, cognitive reappraisal and ability to cope were investigated. 50 families were identified as
eligible for the study and 40 families agreed to be interviewed. The eligibility criteria were that the child
with Thalassemia was under 18 years old and living at home, the parents spoke enough English or Hindi to
take part in interviews. All children in the study were receiving treatment. A performa was devised to
collect information about the composition of the household and the family, amenities at home, health of
family members, education and occupation of parents, age and educational status of the child with
thalassemia. A semi structured interview was devised focusing on a number of areas, such as the time of
diagnosis, how parents obtained the diagnosis, the way the diagnosis was communicated, their view of the
information obtained, the effects of the illness on the parental employment and family’s financial position,
changes in family relationships, partners relationship and social relationships brought about by the illness.
Parental emotional distress was assessed using the Malaise Inventory. The diagnosis was communicated to
40% of parents when the child’s age was < 6months and 35% of parents when the childs age was <12
months. The doctor communicated the diagnosis in 95% of the cases. The majority were satisfied with the
way in which they were told the diagnosis. The feelings at the time of diagnosis were disbelief (87.5%),
depression (80%), anxiety (72.2%), guilt as to the genetic nature of the disease (17.5%) and relief by one
mother who felt that knowing the disease makes it easier to cope. The employment was affected negatively
in 60% of the cases especially for the mothers. 75% had financial problems because of the illness. 50% of
the respondents felt that the child’s illness had no effects on the family, whereas 7.5% of respondents felt
that the family relationship had become less close because of the illness. 42.5% felt that the family had
become closer. 42.5% felt that there was no difference in the relationship. 15% mothers felt that the partner
had become less close. 50% felt that the relationship had become closer. The comments indicated that these
changes related to the quality and strength of the pre existing relationship. 60% of respondents felt that
there was no change in their social relationships. 15% felt their relationships had become less close.
Whereas, 25% of respondents reported that their social relationships had become closer. 67% of
respondents reported to have emotional support. 32% of respondents felt that they had no one to talk to
about their feelings. Majority felt that they trusted the doctor the most and turned to the doctor for
emotional succor too. 60% felt that they needed counseling for themselves regarding their child’s illness.
Thus a lot needs to be done to improve the psychological stress caused by chronic diseases in parents of the
children.
HO/33(P) ASSESSMENT OF QUALITY OF LIFE IN THALASSEMIA MAJOR
Yadav S P, Arya SC, Kaul D, Raina A, Khanna V K, Sachdeva A,
Department of Pediatrics, Center for Child Health, Sir Ganga Ram Hospital, New Delhi,
Aim – Children with thalassemia major have good survival but little is known about their quality of life.
We assessed Health Related Quality of Life in these children. Method – Quality of life was assessed of 26
children (average age 16 yr  5.5) with thalassemia major on regular blood transfusion, registered with
Thalassemia unit at Sir Ganga Ram Hospital by using an 85-item Thalassemia Quality of life questionnaire.
This questionnaire was developed by modifying Pediatric Cancer Quality of life scale developed by Varni
et al covering five domains – disease and symptoms, physical, psychological, social and cognitive fields.
Both desired and present quality of life assessed by patient’s response in each domain. Overall Quality of
Life given as percentage of desired quality of life score.Result – Overall quality of life (QOL) was affected
(<90%) in 88% of patients and severely affected (<70%) in only 15%of patients. QOL assessed in each
domain showed that in disease and symptom domain 96% had QOL<90%, in physical domain 70% had
QOL<90%, in psychological domain 81% had QOL<90%, in social domain 81% had QOL <90% and in
cognitive domain 65% had QOL<90% Conclusions – QOL for each child was given as a summary score
between 0% (worst QOL) and 100% (best possible QOL). Each child himself acted as a control for his best
possible QOL i.e. desired at that point of life according to his understanding and development. This concept
can be very useful for serial assessment of QOL of child with Thalassemia major and interventions can be
done in various domains to improve QOL
HO/34(P) PULMONARY DYSFUNCTION IN BETA THALASSEMIA.
Amit Kandhari, Anupam Sachdeva, VK Khanna, Neeraj Jain, Subash C. Arya, Satya Yadav
Department of Pediatrics, Centre for Child Health, Sir Ganga Ram Hospital, Delhi
Thalassemia is one of the commonest hereditary hemolytic anemia. 3% to 17% of the population in Indian
subcontinent carries beta thalassemia gene. Every year about 100,000 children are born with thalassemia
major in the world. Out of these 8,000 to10, 000 are born in India. Survival of patients with thalassemia
major has greatly improved during recent years, with the introduction of moderate –transfusion programs
and chelation therapy with subcutaneous Desferal (deferrioxamine) and/or Kelfer (Deferiprone). The
repeated transfusions in thalassemics lead to deposition of iron in different tissues, leading to damage and
dysfunction of various systems. Iron deposition is also reported to exist in the lungs at autopsy. Although
lung impairment in thalassemic patients has been reported in the 1980’s,yet it is one of the most under
evaluated and functionally not well-characterized complication. Since there have been contradictory results
reported in literature ranging from restrictive spirometric pattern to an obstructive one, and there is total
paucity of data from India, this study was designed to find out the pulmonary function tests of the beta
thalassemic patients attending our hospital.A total of 30 cases of beta thalassemia major who were
attending the thalassemia clinic at Sir Ganga Ram Hospital were taken up for the study after a written
informed consent. These patients were on moderate –transfusion regimen, maintaining a hemoglobin
concentration of more than 9 gm %. Patients with asthma and cardiac disease were excluded. Pulmonary
function tests done included Forced vital capacity (FCV), Forced expiratory volume in one second (FEV1),
FEV1/FVC percent (FEV1 %) and peak expiratory flow rate (PEFR). Results were interpreted as
obstructive, restrictive and normal pulmonary Function test (PFT). The data was analyzed using software
SPSS version 10.We included three age groups in our study, with total 30 patients in all. Age group 6-10 yr
had 9 patients (mean Serum ferritin 2301 ng/ml), 11-15 yr had 11 children (mean Serum ferritin 3315) and
>15 yr had 11 children (mean Serum ferritin 5147 ng/ml) in the study. Mean age was 14.46 with standard
deviation of 6.75 (mean ferritin was 3682 ng/ml). Overall out of 30 patients 13 had normal PFT and 17 had
abnormal PFT (1 had obstructive PFT and 16 had restrictive PFT). In the age group of 6-10 years 7 had
normal and 2 had abnormal PFT and in age group 11-15 yr 3 had normal and 6 had abnormal PFT and in
age group >15 yr 3 had normal and 8 had abnormal PFT. Of 17 patients on chelation with Desferal alone 11
had normal and 6 had abnormal PFT. 6 patients were on Kelfer alone of which 1 had normal and 5 had
abnormal PFT. Of 7 patients who were on both Desferal and Kelfer, 1 had normal and 6 had abnormal PFT.
All patients on Kelfer or Kelfer + Desferal aged >10 years except one which may explain reason for
increased number of abnormal results in this group. Critical age above which abnormal results were higher
was 11.5 years. Mean Ferritin in patients with normal PFT was 2456 ng/ml and 4621 ng/ml for patients
with abnormal PFT. (p value 0.037) We found a negative Pearson correlation between FVC (% of
predicted) with increasing ferritin (p value 0.038). There was no difference detected between pre and post
transfusion PFT results by using paired t test (p value 0.973).In conclusion the major pulmonary
dysfunction in our study group is that of restrictive type. The abnormal PFT were found in older age group.
FVC was negatively co-related with increasing ferritin level. The number of abnormal results was higher
when the serum ferritin was > 4000 ng/ml and blood transfusion had no effect on the PFT.
HO/35(P) VER, BAER & NCV IN PATIENTS GIVEN HIGH DOSE METHOTREXATE
SP Yadav, A. Sachdeva, Vinita Jain, SC Arya, PK Pruthi, Suresh Gupta, Roma Kumar, LN Srivastava,
Indu Jain
Department of Pediatrics, Center for Child Health, Sir Ganga Ram Hospital, New Delhi
HDMTX has been found to effective for CNS prophylaxis in children with ALL & NHL and to eliminate
the need for cranial radiotherapy. It has been shown that methotrexate has very less toxicity as compared to
radiotherapy. The study was done to determine the incidence of nervous system toxicity following
HDMTX (in doses of 6-8g/sq.m) in Indian children treated for ALL & NHL. Methodolgy: VEP, BERA,
NCV were done before starting HDMTX (Dose of 6-8 gm/mt2) as a part of UKALL XI protocol and then 3
& 6 months after last HDMTX and 1 year after stopping treatment. Data was analyzed using McNemar’s
test for comparing the incidence of each individual clinically observed toxicity after three consecutive
doses of methotrexate. Non-parametric test was applied to compare the methotrexate levels between the
cases who developed toxicity and those who did not. RESULTS: 49 children with ALL & NHL between
the age group 0-18 years with mean age 5.8 years (range 2 to 13 years) were enrolled in the study. In our
study group there were more boys than girls (Ratio was 1.8:1). Majority (80 %) of children enrolled had
ALL rest had NHL Focal neurological deficit was observed in one patient. This child developed paraparesis
after the third dose of high dose methotrexate (followed by intrathecal methotrexate. None of the patients
showed a decrease in their VER, BAER after HDMTX infusion as well as on long term follow up. Only
one patient who developed paraparesis had markedly decreased NCV in the lower limbs but no other deficit
in the body. This child is now 6 years off treatment but has not recovered. Thus very rarely as an
idiosyncratic reaction focal neurological deficits may be seen. This could be ascribed to the Intrathecal
Methotrexate
HO/36(P) PREVALENCE OF HYPOGONADISM IN THALASSEMIA MAJOR PATIENTS – A
SINGLE INSTITUTION EXPERIENCE
Archana Dayal Arya, Anupam Sachdeva, Satya Yadav, VK Khanna, Subhash C Arya.
Department of Pediatrics, Centre for Child Health, Sir Ganga Ram Hospital, New Delhi
Thalassemia is one of the commonest hereditary hemolytic anemia. The survival of thalassemics has
improved significantly. The need for repeated transfusions in thalassemics, leads to deposition of iron in
different tissues, which in turn leads to damage and dysfunction of various organs. If chelation is sub
optimal, this can lead to delayed puberty/ arrested puberty or hypogonadism in these subjects. We need to
address the quality of life issues in Thalassemics. Absence of sexual characteristics in girls till the age of 13
years and a testicular volume <4ml in boys till the age of 14 years is defined as delayed puberty. Arrested
puberty is the non-progression of puberty for a period of 12 months and complete absence of puberty is
known as hypogonadism. Hypogonadism also results in worsening of the bone mineral density, since sex
steroids are also responsible for bone mineralization. Delayed puberty /hypogonadism is usually due to
deposition of iron in the anterior pituitary gland since even moderate amount of iron deposition can affect
this gland. Other factors that are responsible for delay in puberty are chronic anemia and delayed bone age.
The gonads (testes in males and ovaries in females) are usually healthy with no significant iron deposition.
All patients with Thalassemia major enrolled at our center are assessed for their pubertal status at every
visit. The purpose of this study was to see the effect of beta thalassemia major on the onset and progression
of puberty and its relation to chelation. A retrospective analysis of our case records of children and young
adults between the age of 16 to 25 years was done. A diagnosis of hypogonadism was made on the basis of
clinical assessment of puberty by a pediatric endocrinologist, levels of LH, FSH and testosterone in males
and estradiol in females. Constitutional delay of puberty was ruled out before the laboratory evaluation.76
subjects in this group, of which 47 (62%) were males and 29 (38%) were females, had been assessed for
their pubertal status at the Thalassemia endocrinology clinic. These patients were on moderate transfusion
regimen, maintaining a hemoglobin concentration of 8- 9 gm %. Most were on chelation with
desferrioxamine or deferiperone or both, but compliance was not good in many patients. Average serum
ferritin levels were calculated by averaging the ferritin levels over the last 5 years. Puberty was staged
according to Tanner s stages of puberty. 39 of the 76 patients (51%) had normal onset of puberty i.e. before
13 years in females and 14 years in males. 28/47 (59.6%) males and 11/29 (37.9%) females had normal
onset of puberty. Average mean serum ferritin for the group with normal puberty was 4127 ng/ml (9767484ng/ml). 37 of the 76 (49%) patients had hypogonadism. 18/29 (62%) females and 19/47 (40.4%) males
were affected. Mean S. ferritin for this group was 5234 ng/ml (Range 1248-10900). In conclusion 51% of
our patients had hypogonadism, which did not correlate with the serum ferritin levels. It is possible that the
anterior pituitary gland may be sensitive to lower ferritin levels. Age of onset of chelation and the effects of
the 2 drugs used for chelation may indirectly affect puberty. These factors are currently being evaluated in
our study subjects.
HO/37(O) BACK TO THE VEDAS – SUGGESTING COPING STRATEGIES FOR PARENTS OF
CHILDREN SUFFERING FROM CANCERS
Anupam Sachdeva, Vinita Jain, SC Arya, PK Pruthi, Suresh Gupta, Prachi, SP Yadav
Department of Pediatrics, Centre for Child Health, Sir Ganga Ram Hospital, New Delhi
Objectives: Study was conducted to find out the thought processes and the coping mechanisms in the
parents of children with cancer. Methodology: 50 families with recently diagnosed cancer within a month
of diagnosis were included and a formal and informal interview technique was used. Results: As expected
there was a lot of distress. The distress was compounded due to the belief that cancer is incurable. Majority
had seen adult patients dying of cancer and they extrapolated this to their children. Some parents had a guilt
complex that they had erred in taking care of their children. In the Indian context we could divide the
parents into four distinct types. The predominantly emotional, and when we say emotional we mean they
looked inwards. They settled down eventually with a leaning towards devotional or philosophical and
treaded the pathway of Bhakti. The predominantly intellectual, was the one who explored the internet
thought of all the possibilities, read the literature and talked to a lot of people, settled down after satisfying
their quest for knowledge. They treaded the pathway of knowledge or Gyan. Balanced in both was the one
who listened to the doctor and getting the information were interested in action or karma and took solace in
the fact that lets do our duty and God will take care of the rest. Underdeveloped in both was the one who
neither a seeker of knowledge nor interested in what was being done, left everything to the treating unit.
They were not able to provide much support to the family or the kids. They are the ones who tread the
pathway of compulsion or Hatha. We have devised methods to take care of all categories.
Conclusions:Human beings can be divided into four categories and our support systems have to be resilient
enough to provide support to all categories.
HO/38(P)
ARE COAGULATION STUDIES DONE ON SAMPLES DRAWN THROUGH
HEPARINISED INTRAVASCULAR LINES ACCURATE? A COMPARATIVE STUDY
D. Gupta, A Sachdev, K Chugh, Gurinder Pal Singh
Center for Child Health, Sir Ganga Ram Hospital New Delhi
Introduction: A large proportion of patients admitted to PICU need monitoring of their coagulation status.
It would be advantageous to draw blood for these studies through intra-arterial and central venous lines, as
that would avoid additional pricks to the sick child. However, doubt remains whether or not addition of
heparin in the flush solution interferes with routine coagulation profile i.e. prothrombin time (PT) and
activated partial thromboplastin time (aPTT ). Objectives: we designed a study to compare the results of
prothrombin time ( PT) and activated partial thromboplastin time (aPTT) done on blood samples drawn
from peripheral venous puncture , intra-arterial catheter and central venous line, which are being
continuously flushed with heparin infusion at the rate of 2 units / hour. Methods: This prospective study
was carried out in an 8-bedded PICU of a tertiary care teaching hospital.One hundred ten consecutive
patients were enrolled in the study. There were 79 males. All the patients were sedated and had indwelling
arterial catheter in radial artery and central venous line (femoral or subclavian). PT, and aPTT were tested
from three separate blood samples, one each from peripheral vein, central venous line and arterial line. Five
milliliters of blood from arterial and central line was withdrawn in a separate syringe to minimize heparin
contamination in test sample. Results:Means of PT & aPTT taken from arterial port and venous puncture
were compared. For Prothrombin time difference between means is 0.18 seconds with S.D of 3.6 with
confidence limit of 0.5 to 0.86 (P value > 0.05). The arterial port and venous puncture samples for aPTT
were analyzed by paired‘t’ test. Difference of mean was between 2-3 sec, confidence interval between –
2.96 to –1.74. P-value is < 0.05 . Though P value is showing statistical significance but difference of 2
seconds from mean is clinically not relevant Samples drawn from central venous line and venous puncture
were also compared. For Prothrombin time difference between means was 0.1216 sec with SD 3.59.
Values were statistically not significant with P-value 0.723. For aPTT , the difference between means is
less than 2 sec with P-value < 0.001 .Though P value is showing statistical significance but difference of 2
seconds from mean is clinically not relevant . Conclusion: Our results indicate that coagulation studies can
be carried out on blood samples from a heparin flushed arterial line or central venous line and result corelate well with those obtained from veni-puncture sample, provided sufficient blood volume is discarded
to prevent heparin contamination.
HO/39(O) HIGH DOSE METHOTREXATE FOR CNS PROPHYLAXIS IN PEDIATRIC
PATIENTS OF ALL & NHL HOW SAFE IS IT?
Indu Jain, Anupam Sachdeva, Vinita Jain, SC Arya, PK Pruthi, Suresh Gupta, Roma Kumar, LN
Srivastava, SP Yadav
Department of Pediatrics, Centre for Child Health, Sir Ganga Ram Hospital, New Delhi
HDMTX has been found to greatly increase survival in children with ALL & NHL and to eliminate the
need for cranial radiotherapy. Various studies have also shown that HDMTX is not very toxic. The study
was done to determine the clinical toxicity following HDMTX (in doses of 6-8g/sq.m) in Indian children
treated for ALL & NHL. Methodolgy: 49 cases of Acute Lymphocytic Leukemia (ALL) and NonHodgkin’s Lymphoma (NHL) in the age group 0-18 years were enrolled. Children were given 6-8gms/mt2
along with hydration in 24 hours followed by intrathecal methotrexate and 12 hours latter with Folinic Acid
rescue. Children below 3 years of age were given 8gms/mt2 and children > 3 years of age were given
6gms/mt2. Any clinical features of acute neurotoxicity (nausea, vomiting, seizures, features of raised
intracranial pressure) or any bleeding tendency were noted. The presence or absence of mucositis was also
noted. Along with this the renal parameters as well as hepatic parameters were also recorded.
STATISTICAL ANALYSIS: Data was analyzed using McNemar’s test for comparing the incidence of
each individual clinically observed toxicity after three consecutive doses of methotrexate. Results: 49
children with ALL & NHL between the age group 0-18 years with mean age 5.8 years (range 2 to 13 years)
were enrolled in the study. In our study group there were more boys than girls (Ratio was 1.8:1). Majority
(80 %) of children enrolled had ALL rest had NHL Each patient received 3 doses of HDMTX (followed by
intrathecal methotrexate) with folinic acid rescue; one patient did not receive the third dose of high-dose
methotrexate. Vomiting was most common symptom of toxicity. It was the maximum (49%) after the first
dose with 12.5% after second dose and 39.7% after the third dose. Headache was a less common feature,
seen in only 2% patients. The overall incidence was 0.7 %. Significant mucositis, WHO Grade III and IV,
was seen in 44.8%, 36.7% and 31.2% of the cases after the first second and the third dose. Though the
incidence of mucositis was the maximum (44.8 %) after the first dose as compared to the other doses, but
the difference was not significant. First and second dose methotrexate had a higher frequency of toxicity
36.6% and 30% respectively. The overall incidence of hepatotoxicity was 25.5%. There were three cases,
which had gone into non-oliguric renal failure (6.1%). All other patients had normal renal function tests.
We also evaluated the children neurologically and one child had seizures and another developed
paraparesis. The child who developed seizures died. Thus high dose methtrexate has a high incidence of
transient abnormalities with involvement of the renal and the hepatic system but they are all more or less
reversible.
HO/40(P)
RELATION OF XMN-1 POLYMORPHISM AND FIVE COMMON INDIAN
MUTATIONS OF THALASSAEMIA WITH PHENOTYPIC PRESENTATION IN THALASSAEMIA :
Raina Aditya, Verma I.C., Saxena Renu, Kaul Dinesh, Khanna V.K., Sharma Juhi, Anupam Sachdeva
Department of Pediatrics, Center For Child Health, Sir Ganga Ram Hospital, New Delhi
Xmn-1 polymorphism is a known factor, which increases fetal hemoglobin production. Among, 
thalassemics in India five mutations are common. Disease severity was assessed based on age of
presentation, age when the first transfusion was received and the amount of blood transfused in ml/kg/year.
Data was divided into three Xmn-1 categories, Xmn-1 +/+, Xmn-1 -/+, Xmn-1 -/-, intergroup correlation
was made. Mutations were divided into 2 groups, (Group I) IVS 1-1 as one of its variables and (Group II)
without IVS 1-1. They were correlated. In Xmn-1 +/+ category 66% were diagnosed after one year of age,
in mutations (Group I) 54% had age of diagnosis after 1 year. 77.8% in Xmn-1 +/+ received their first
blood transfusion after 1 year of age, in mutations (Group I) 64% received their first blood transfusion after
1 year of age. 66% patients in Xmn-1 +/+ category received blood <200ml/kg/year as against 72% in Xmn1 -/- category. In mutations Group I 57% received blood transfusion <200 ml/kg/year as against 68% in
Group II. It is concluded that the presence of Xmn-1 polymorphism and IVS 1-1 mutation leads to a milder
phenotypic presentation causing a delay in onset of blood transfusions but dose not affect the amount of
blood received/kg/year.
HO/41(O) ANXIETY, SELF-ESTEEM AND SOCIAL FUNCTIONING IN ADOLESCENTS WITH
THALASSEMIA MAJOR
Anupam Sachdeva, Satya Yadav, Satinder Kaur Gujral, Ashum Gupta, VK Khanna, Roma Kumar
Department of Pediatrics, Centre for Child Health, Sir Ganga Ram Hospital, New Delhi
It has been established that it is important to provide a therapeutic strategy in Thalassemia major that
includes not only medical but also psychological and social interventions from childhood to adulthood, the
modalities and instruments of intervention and methods of evaluation and verification still have to be
defined. In the present study an attempt has been made to compare thalassemic adolescents to that of
healthy adolescents in the areas of psychological factors - anxiety, self-esteem and social functioning. In
this study we prospectively studied 40 adolescents (age 13-19 years) of which 20 had thalassemia major
and 20 were normal healthy adolescents. In order to compare the two groups on anxiety and self-esteem the
t-test was used. A semi-structured interview was used to assess psychological factors. In order to find
significant difference between two groups on this semi-structured interview, chi square test was used. The
measure of anxiety in the present study is that of trait anxiety stable personality measure which is resistant
to situational fluctuation. There was no difference between two groups in the present study on standardized
measure of trait anxiety (t value 0.96). Most theoretical formulations have stressed that thalassemia can
have effect on self-image. Specially, body changes and disruption of activities are seen as lowering the
patient self worth however, no significant difference was found between two groups in present study on
standardized measure of self-esteem. (t-value 0.70) In the social functioning the chi square test found a
significant difference in the extent to which the two groups liked the school (p value <0.05) as 35% of
thalassemics like the school a lot against only 10% of healthy. In leisure activity thalassemic adolescents
were more sedentary type (p value <0.25). In daily functioning no significant difference was noted
amongsts two groups. In illness issues the only question which revealed significant difference were that
are you able to run as much as others (p value < 0.01) Thalassemic adolescents were not “able to run as
much as others” and fell ill more often than the healthy adolescents. In regards to future 50% thalassemics
hoped to be cured in future whereas 45% of healthy adolescents had responded to having friends as the
future hope. In the views on employment prospects significant difference was found (p value <0.01) where
30 % of thalassemics were pessimistic and rest 70% optimistic whereas 100% of healthy adolescents were
optimistic. In the field of marriage and parenthood majority of adolescents in each group anticipated
marriage and parenthood. No significant difference was noted. In conclusion this study shows that, in
general, the self-concepts of thalassemics were normal.
HO/42(P) GLUCOSE METABOLISM AND THE FACTORS AFFECTING IT, IN CHILDREN
WITH THALASSEMIA MAJOR
Archana D. Arya, Anupam Sachdeva, VK Khanna, Subhash Arya, Satya Yadav
Department of Pediatrics, Centre for Child Health, Sir Ganga Ram Hospital, Delhi,
In Thalassemia major children need to be frequently transfused. With each transfusion iron gets
accumulated in the body. This excessive iron causes damage to all the organs in the body. This also affects
the pancreas leading to abnormalities of the glucose metabolism in the body. The incidence of these
abnormalities in the glucose metabolism increase with age and the peak age of incidence is between 16-20
years. The Indian (Asian) population is genetically predisposed to developing Type 2 Diabetes Mellitus,
which is an additional risk factor for our Thalassemic population. Adding fuel to the fire is suboptimal
chelation in most of the patients due to economic reasons and ignorance. Impaired glucose tolerance (IGT)
usually antedates the development of frank diabetes mellitus. Intensive chelation in those with impaired
glucose tolerance test may delay/prevent the onset of diabetes mellitus. Thus it is important to know the
glyco-metabolic status of these children. We routinely perform glucose tolerance test (GTT) in all subjects
with Thalassemia major who have not already developed diabetes to identify the “at risk” population. A
baseline fasting sample for blood glucose is taken then oral glucose is given in a dose of 1.75mg/kgupto a
maximum of 75 gms. Blood glucose level is measured 2 hours after oral glucose. According to the WHO
criteria, Fasting plasma glucose between 110-126mg/dl is classified as impaired fasting and above
126mg/dl as diabetes. A 2-hours plasma glucose value between 140-200mg/dl is classified as impaired
glucose tolerance and above 200 mg/dl as diabetes. The aims of this study were: To analyze the status of
the glucose metabolism of children and young adults with Thalassemia major who were attending our
Thalassemia endocrinology clinic. To compare the factors affecting subjects with an abnormal glucose
metabolism with those who have a normal glucose etabolism. The parameters compared were: Effect of
mean S. ferritin levels Effect of age of onset of chelation Genetic predisposition. Retrospective analysis of
our case records was done to determine the prevalence of diabetes and impaired glucose tolerance in
children and young adults between 13 and 25 years of age. Of the 33 subjects evaluated, 16 (48.5%)
subjects had an abnormality of the glucose metabolism. 14/33 subjects (42.4%) had developed diabetes
mellitus and 2 had an impaired GTT. Of the 16 affected subjects 9 were males and 7 were females
(M:F::1.28:1). The mean serum ferritin for this group was 5464ng/ml, 5503ng/ml for the diabetic group and
5425 for those with impaired GTT. (2523-10904ng/ml). History of diabetes in a first or second degree
relative was positive in 9 subjects (56.25%), negative in 2 and unknown in 5 subjects. Average age of onset
of chelation was 8 years in this group. Oral glucose tolerance test was normal in 17/33(51.5%) subjects of
which 10 were males and 7 were females (1.42:1). Average serum ferritin was 4747.4ng/ml in the group
with a normal glucose tolerance. (1600-8294ng/ml). Family history of diabetes in a first or second degree
relative was positive in 8 subjects (47%), negative in 4 and unknown in 5 subjects. Average age of onset of
chelation was 6.5 years in the group with normal glucose etabolism. Conclusion: Of the 33 subjects
evaluated, 48.5% had an abnormal glucose metabolism.
HO/43(O) HYPOPARATHYROIDISM IN THALASSEMIA MAJOR
Anupam Sachdeva, Archana D. Arya, Satya P. Yadav, VK Khanna, Subhash C. Arya
Department of Pediatrics, Centre for Child Health, Sir Ganga Ram Hospital, New Delhi
Endocrinopathies are frequently reported in children with Thalassemia major. The children at our centre are
transfused regularly to maintain hemoglobin of at least 8-9 gm/dl. Most subjects are advised chelation with
Desferrioxamine or Deferiprone or a combination of the two drugs, although a majority of children have
poor
compliance
and
are
poorly
chelated.
Hypoparathyroidism usually occurs in Thalassemia Major due to excess iron deposition in the Parathyroid
glands. All patients suffering from Thalassemia Major are evaluated routinely for their bone metabolism.
The fasting serum calcium, phosphorus, intact parathormone and alkaline phosphatase levels are checked
annually to screen for hypoparathyroidism and Vitamin D deficiency. A diagnosis of hypoparathyroidism is
made if the serum calcium is low, phosphorus is high, alkaline phosphatase level is normal and serum
parathormone level (intact) is low-normal. Mean S.Ferritin levels of all the subjects were calculated by
averaging
the
ferritin
values
over
the
last
5
years.
We analyzed the screening results for hypoparathyroidism in 110 subjects with Thalassemia Major between
the ages of 10-25 years. Of these 110 subjects 19 (17.3%) were found to be suffering from
hypoparathyroidism and 91 patients had a normal screen. Mean S. Ferritin level was 5997ng/ml in the
affected subjects (ranging from 2900 to 10,904 ng/ml), compared with the mean S. Ferritin level of
3793ng/ml in the unaffected subjects, which was clinically significant, showing a direct correlation
between the poor chelation and development of hypoparathyroidism. Only 2 subjects from our affected
group had an average ferritin of 2000-3000 ng/ml, although they also had other endocrine disorders such as
short
stature
and
hypothyroidism.
Of the affected subjects, 9 were males and10 were females (M:F::1.1:1). The reported male: female ratio
for hypoparathyroidism in thalassemics is 3:1. Age of onset of hypoparathyroidism ranged from 10.9 years
to 23 years with mean age of onset being 16 years. The youngest subject (10.9 years) had an average
Ferritin of 2908 ng/ml. All the affected subjects above 15 years of age had hypogonadism, 7 of the 19
affected subjects (36.84%) had diabetes, 4 (21%) of them had an abnormal glucose tolerance test, and 5
(26.3%)
had
hypothyroidism.
Conclusion: The incidence of hypoparathyroidism reported in our group of patients is higher compared to
those reported from other continents (3.6-4.5%) probably due to poor chelation. Both males and females
are equally affected and the age of onset is earlier compared to reports from other countries. This suggests
that high ferritin levels due to poor chelation is a major factor in the development of hypoparathyroidism
and most subjects who develop it, have multiple endocrine disorders.
HO/44(P) GENOTYPE PHENOTYPE CORRELATION IN THALASSEMIA SYNDROMES
Aditya Raina, Anupam Sachdeva, VK Khanna, Subhash C Arya, Satya Prakash Yadav, Ishwar Verma
Department of Pediatrics, Centre for Child Health, Sir Ganga Ram Hospital, New Delhi
Among the inherited disorders of blood, thalassemia constitutes a major bulk of genetic diseases in India. It
causes a high degree of morbidity. In a study conducted in India it has been estimated that there is a
frequency of 1:2700 at the time of birth. Thus on an average 9000 new thalassemics are born every year in
India. The present study has been aimed at investigating the clinical and hematological spectrum in the
above syndrome. It also assessed the prevalence of Xmn-1 polymorphism its relationship with various
mutations and its role in modifying the clinical manifestations. The study was conducted on fifty patients
representing 49 families and consisting of 33 males and 17 females who were homozygous for beta
thalassemia and ranged in age from 3 months to 32 years. The patients were screened for common Indian
mutations and their Xmn-1 polymorphism status and this was correlated with their clinical parameters. A
positive correlation in presence of Xmn-1 polymorphism and IVS1-1 mutation was noted. There was also a
correlation between age at diagnosis and also the age at first transfusion. There was a correlation between
Xmn polymorphism and IVS1-1 mutation. This was found most commonly in the Punjabi Khatri
community. None of the patients with blood group O had positivity of Xmn polymorphism. There was no
correlation between Xmn-1 and hemoglobin at diagnosis, HbF at diagnosis, MCV at diagnosis, amount of
blood in mL/Kg/year and sex and religion.
HO/45(O) DETECTION OF HEMOGLOBINOPATHY IN PEDIATRIC PATIENTS
CELLULOSE ACETATE ELECTROPHORESIS (CAE)
Bhawna Bhimte, Farah Khan, A. V. Bopche, Sneh Shukla, Rashmi Dwivedi, B. K. Agrawal.
BY
Objective: - Present study aimed to find incidence of Hemoglobinopathies among severe anemic patients
by studying their complete blood hemogram and performing CAE. Spectrum of Hemoglobinopathies, their
prevalence, socio-economic status and demographic profile of affected patients were also studied. Material
and Method: - 100 severe anemic patients of 0-5 yrs. were studied. Their pre BT (blood transfusion)
samples were collected and CAE was performed at 7.4 pH and complete blood hemogram tests were also
done. Result: - Out of 100 patients 40% were detected to be positive for different Hemoglobinopathies. Out
of them 82.5% (33) were of β0 β0 Thalassemia (major), 10% (04) were of sickel cell anemia while 5% and
2.5% were of β0 β+ Thalassemia (minor) and sickel cell trait respectively. Of these 40% patients 20% were
Sindhi, 17.5% Muslims, 12.5%Thakurs, 7.5% were of Mahar communities. Conclusion: - CAE has been
proved to be effective in terms of primary diagnostic tool due to its simple technique and reliability.
Thalassemia was found to be prevalent among Sindhi community while Sickel cell anemia was prevalent in
Mahar community.
HO/46(P)
CT AND MRI FINDINGS AND THEIR CORRELATION TO IQ IN PATIENTS
TREATED WITH HIGH DOSE METHOTREXATE FOR CNS PROPHYLAXIS IN ALL & NHL
Indu Jain, Anupam Sachdeva, Vinita Jain, SC Arya, PK Pruthi, Suresh Gupta, Roma Kumar, LN
Srivastava, SP Yadav
HDMTX has been found to be as efficacious as radiotherapy eliminate the need for cranial radiotherapy.
The study was done to determine the incidence of CNS toxicity following HDMTX (in doses of 6-8g/sq.m)
in Indian children treated for ALL & NHL. Methodolgy:CT Scans, MRI and IQ assessment were done
before, 3 months and 6 months after in children given HDMTX (Dose of 6-8 gm/mt2) as a part of UKALL
XI protocol and 1 year after stopping treatment Results: 49 children with ALL & NHL between the age
group 0-18 years with mean age 5.8 years (range 2 to 13 years) were enrolled in the study. In our study
group there were more boys than girls (Ratio was 1.8:1). Majority (80 %) of children enrolled had ALL
rest had NHL Each patient received 3 doses of HDMTX (followed by intrathecal methotrexate) with folinic
acid rescue; one patient did not receive the third dose of high-dose methotrexate. Headache was a less
common feature, seen in only 2% patients. The overall incidence was 0.7 %. In the study group one patient
had acute seizure episode after the second dose of methotrexate (2 %). Focal neurological deficit was
observed in one patient. The child developed paraparesis after the third dose of high dose methotrexate
(followed by intrathecal methotrexate). The CT and MRI showed abnormality only in one case, which had
paraparesis. Even the child who had seizures did not show any changes. The IQ was affected in two
children. One had specific learning disability (had received radiotherapy) and another had a fall in the IQ.
There were no correlative CT MR findings. Conclusions: Chronic toxicity was seen in 6.1% of cases 3/49.
Neurotoxicity (acute + chronic) was observed in 5/49 = 10.2% cases.