Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Investigations and treatment
In the exam a Case scenario is offered and you mention Investigation or treatment
Kindly hide the diagnosis and test yourself
Nutritional disorders
A mother brings her 12 months old boy because he is always crying. She observed that
her child is wasted and looks markedly wasted. On examination, the child is crying most
of the time he looks very thin and wasted. His weight is 6.5 kg His lips look pale with
macerated mouth angles. Subcutaneous fat is lost over the abdomen, buttocks, with senile
face. Chest examination reveals scattered 4 rales and crepitations all over the chest
What is your diagnosis: Marasmus 3rd degree complicated with pneumonia?
Mention possible investigations and treatment
INV:
For marasmus:
1. CBC: Anemia, leukocytosis (infection).
2. Other markers of infections: CRP, ESR, Stool analysis.
3. Serum protein: not markedly ↓↓ (DD: Kwashiorkor).
4. Electrolytes, blood glucose.
5. Investigations of non-nutritional marasmus.
For pneumonia:
1. Chest X-ray:
a. Confirm the diagnosis.
b. Complications: effusion- empyema- pneumothorax- lung abscess.
2. Blood gas: in severe cases lowered O2 tension and raised CO2.
3. CBC, ESR, CRP: DD/ bacterial and viral causes.
4. Culture and sensitivity test: morning nasopharyngeal aspirate or sputum culture.
1
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
TTT:
For marasmus:
A) Hospital Management
1. Indications:
• Moderate or severe Kwashiorkor.
• Marasmic kwashiorkor.
• 3rd degree marasmus.
• Complications.
2. Management plan (Stabilization and management of complications):
• Infection (GE, pneumonia...): Proper antibiotics.
• Shock: Shock the spy (Immediate IV fluid: Lactated ringer's 20 ml/Kg).
• Dehydration: IV fluid therapy (Deficit therapy).
• Electrolyte disturbances: should be corrected.
• Anemia: Packed RBCs Hypoglycemia (IV glucose).
• Hypothermia: adequate clothing or radiant warmer.
Type of Rational
foods
According to the age:
• Milk-fed: Milk (Lactose-free may be used initially), standard formula
• Weaned infants: Balanced diet [CHO = 50%, Lipids = 35 %, Protein = 15%]
Amoun
t
Start with ≈ 75 Kcal/kg/day
↑↑ Amount and concentration according to the child tolerance (Rate of ↑↑ 5-10
Kcal/kg/day)
Route
B) Nutritional management (Home or hospital):
Marasmus
Oral or Nasogastric tube (NGT)
↑↑ Calories 150 Kcal/Kg/day (to be reached gradually)
2
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Vitamins:
1. Vitamin A:
• <6 months: 50.000 IU/day
• 6-12 months: 100.000 IU/day
• 12 months: 200.000 IU/day
2. Vitamin B, C, D, E, Folic acid
Minerals:
• Iron (4-6 mg/kg/day) and zinc
For pneumonia:
A. Hospital management (7-10 days):
1. Indications
• Severe pneumonia (severe RD) or complicated pneumonia.
• Small infants (Less than 6 months).
2. Supportive measures: Humidified oxygen - IV fluid (NPO) - suction - mechanical
ventilation.
3. Specific treatment: Broad spectrum combined parenteral antibiotics to cover G+/(Ampicillin 50-100 mg/kg/day + gentamycin 4-6 mg/kg/day). Antibiotics may be
changed according to results of culture and sensitivity and clinical response.
4. Treatment of complication:
• Drainage of empyema.
• Mechanical ventilation (in respiratory failure).
B. Home management for most cases:
1. In Older children with mild pneumonia without distress.
2. Oral or better intramuscular antibiotics.
3. Amoxicillin 50 mg/kg/day or better broader-spectrum antibiotics such as
amoxicillin-clavulanic acid for 7-10 days.
3
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
A mother brings her 14-month-old boy because he is not well. She observed that her child
has recently lost his appetite and became disinterested in playing. The mother says that
she got another baby 3 weeks ago, and in the last 2 months, she stopped breastfeeding her
older child and started to give him mashed potatoes cooked rice with some added sugar
and boiled macaroni. On examination, the child looks distressed, coughing with cyanosis
and grunting but he is not feverish. His weight is 8 Kg. His temp is 36.3 C and his
respiratory rate is 60 breaths/m. He looks edematous with sparse light color. His lips are
pale
Diagnosis: Kwashiorkor complicated with pneumonia & respiratory failure
Mention possible investigations and treatment
INV:
For Kwashiorkor:
1. CBC: Anemia, leukocytosis (infection).
2. Serum albumin: ↓↓ (N= 3.5-5.5 g/dl).
3. Serum globulin: ↓↓ α and β-globulins (↑↑ γ-globulins due to infections).
4. Electrolytes:
• Hyponatremia: it is dilutional (N:135 -145 mEq/L)
Total sodium increased (aldosterone), but serum sodium decreased (water retention).
• Hypokalemia and hypoglycemia.
• Hypomagnesaemia.
For pneumonia:
1. Chest X-ray:
A. Confirm the diagnosis.
B. Complications: effusion- empyema- pneumothorax- lung abscess.
2. Blood gas: in severe cases lowered O2 tension and raised CO2.
3. CBC, ESR, CRP: DD/ bacterial and viral causes.
4. Culture and sensitivity test: morning nasopharyngeal aspirate or sputum culture.
4
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
TTT:
For Kwashiorkor:
A) Hospital Management
1. Indications:
• Moderate or severe Kwashiorkor.
• Marasmic kwashiorkor.
• 3rd degree marasmus.
• Complications.
2. Management plan (Stabilization and management of complications):
• Infection (GE, pneumonia): Proper antibiotics.
• Shock: Shock the spy (Immediate IV fluid: Lactated ringer's 20 ml/Kg).
• Dehydration: IV fluid therapy (Deficit therapy).
• Electrolyte disturbances: should be corrected.
• Anemia: Packed RBCs Hypoglycemia (IV glucose).
• Hypothermia: adequate clothing or radiant warmer.
Rational
(Target)
↑↑ Proteins
4-6 gm/Kg/day
Type of
foods
According to the age:
• Milk-fed: Milk (Lactose-free may be used initially) then standard formula
• Weaned infants: High-protein diet (Egg, meat, chicken, beans), Vegetables
and fruits.
Amoun
t
Start with = 1 gm/kg/day
↑↑ Amount and concentration according to the child tolerance
Route
B) Nutritional management (Home or hospital):
Kwashiorkor (More difficult)
• Oral
• NGT: if there is marked anorexia
• TPN: may be required in severe cases
5
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Vitamins:
1. Vitamin A:
• <6 months: 50.000 IU/day
• 6-12 months: 100.000 IU/day
• 12 months: 200.000 IU/day
2. Vitamin B, C, D, E, Folic acid
Minerals:
• Iron (4-6 mg/kg/day) and zinc
For pneumonia:
A. Hospital management (7-10 days):
1. Indications
• Severe pneumonia (severe RD) or complicated pneumonia.
• Small infants (Less than 6 months).
2. Supportive measures: Humidified oxygen - IV fluid (NPO) - suction - mechanical
ventilation.
3. Specific treatment: Broad spectrum combined parenteral antibiotics to cover G+/(Ampicillin 50-100 mg/kg/day + gentamycin 4-6 mg/kg/day). Antibiotics may be
changed according to results of culture and sensitivity and clinical response.
4. Treatment of complication:
• Drainage of empyema.
• Mechanical ventilation (in respiratory failure).
B. Home management for most cases:
1. In Older children with mild pneumonia without distress.
2. Oral or better intramuscular antibiotics.
3. Amoxicillin 50 mg/kg/day or better broader-spectrum antibiotics such as
amoxicillin-clavulanic acid for 7-10 days.
6
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
A 1.5-year-old boy presents with abnormal gait and poor weight gain. He was breast fed
for the first year without any other supplementation. On examination, he is pale with
prominent forehead and a marked abdominal distension. He has small chest swellings.
His length is on the 25th centile and his weight on the 10th centile. The hand and foot
show abnormal fixed position. And the child started to convulse
What is your diagnosis? rickets complicated with hypocalcemic tetany & convulsion
Mention possible investigations and treatment
INV:
A) Laboratory
• Serum calcium: Usually normal but may be decreased in cases with: bone Ca
depletion, parathyroid exhaustion or with the use of high dose of vitamin D Serum
phosphorus: (N = 4.5-6.5 mg/dl)
• Serum alkaline phosphatase: ↑↑ (Earliest manifestation)
B) Imaging (Radiological improvement start to occur after 2 weeks of vitamin D therapy)
Healing (2-3 weeks
Healed
of TTT)
Dense concave
Dense straight white
white line of
line of calcification
calcification
Active
Metaphysis
Diaphysis
Epiphysis
Broadening,
Cupping and
Fraying
↓↓ Bone density
Fractures (Greenstick) Double
periosteal line
↑↑ Joint space Bone
age (Carpal bones)
Still there is
manifestations of
active rickets (but
less severe)
Improved bone
density Deformities
may persist
TTT:
➢ Prevention:
1. Nutritional education: Value of breastfeeding, proper weaning....
• Diet rich in vitamin D: Oily fish (salmon, sardines), egg yolk, liver, butter,
fortified milk
• Avoid rachitogenic diet.
7
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
2. Vitamin D supplementation [40 IU = 1 µg]
• Full-term: 400 IU/day (since birth)
• Preterm: 800 IU/day (as early as the 1st month)
3. Sun exposure (UVR)
4. Regular assessment of nutritional state: Early manifestations of rickets
➢ Treatment:
A) Vitamin D therapy:
a. Oral therapy:
• Dose: Vitamin D3: 3000-5000 IU/day
• Duration: 2-4 weeks
b. Parenteral therapy:
• Dose: Vitamin D3: 600.000 IU (Shock therapy)
• Duration: Single IM dose
• Advantages
o More rapid
o No need for parents’ compliance
o Diagnosis of non-vitamin D deficiency rickets
• Disadvantages (Side effects)
o Tetany
o Hypervitaminosis D
B) Treatment of complications:
a. Tetany: IV Ca gluconate 10% "1 ml/Kg" (Slowly while monitoring heart rate)
b. Deformities and Fractures: Orthopedic care (After complete bone healing)
c. Infections: proper antibiotics
d. Iron deficiency anemia: Iron (6 mg/kg/day)
8
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Genetics
A 3-days old female infant is referred from a community hospital for bilious vomiting
and a heart murmur. The baby was born at 37 weeks gestation to 39-year-old women. On
examination, he appears jaundiced and has a flat facial profile, short upward slanting, flat
nasal bridge with epicanthal folds; a small mouth with protruding tongue and single
palmer crease. A loud holosystolic murmur is heard over the chest. Generalized
hypotonia is present
What is your diagnosis? Down syndrome mostly non-disjunction with VSD.
Mention possible investigations and treatment
INV:
i. For down syndrome:
A) Laboratory
1. Karyotyping (for patient and his mother) to determine the genetic type of Down
syndrome and risk of recurrence.
2. Complete blood count, if leukemia is suspected.
3. Thyroid profile and regular blood glucose checking.
B) Imaging
1. Plain X ray:
• Chest for pneumonia.
• Abdomen to exclude GIT anomalies (in neonates e.g., duodenal atresia).
2. Echocardiography: to exclude cardiac anomalies.
3. Abdominal ultrasonography: to exclude renal and gastrointestinal anomalies.
C) Regular hearing and vision testing.
ii. For VSD:
1. Chest X ray:
• Heart: biventricular enlargement
• Chest: Lung plethora
2. ECG: biventricular hypertrophy (mainly the left ventricle).
3. ECHO will assess.
• Position and size of the defect and blood flow across.
• Pulmonary pressure.
• Cardiac dilation and efficacy of contractility.
9
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
TTT:
For down syndrome:
rehabilitation and management of complications:
1. Diagnosis and management of complications and associated anomaly e.g., heart
failure, chest infections and hearing aids if needed.
2. General measures: special schools for rehabilitation and education.
3. Specific measures: speech therapy and physiotherapy.
For VSD:
For VSD:
A) Medical:
• Infective endocarditis (Prophylaxis and treatment).
• Proper nutrition.
• Management of HF.
• Treatment of chest infections.
B) Surgical closure (Surgery or catheter):
Indications:
a. Large defect with failure of medical treatment
b. Infant 6-12 months old with large VSD and pulmonary hypertension
• Surgery should be delayed in stable child with moderate VSD. "Spontaneous closure"
• Surgery is contraindicated in patients with Eisenmenger syndrome
• Heart-lung transplantation is the only surgical option for Eisenmenger syndrome
• Pulmonary artery banding: to limit increased pulmonary blood flow may be useful in
multiple muscular VSD
10
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
A 13-year-old girl presents to your clinic for evaluation of short stature. The patient has
not yet attained menarche and her mother reports no breast development. She has been
well with no chronic medical problems. Her mother is 173 cm and had menarche at age
of 12. Her father is 185 cm and started shaving at age of 15 years. On examination her
height is 120 cm less than 5th centile she is pre pubertal, has a webbed neck and widely
spaced nipples the carrying angle is increased
What is your diagnosis: a case of turner syndrome?
Mention possible investigations and treatment.
INV:
1. Laboratory
1. Karyotyping: 45 XO
2. Hormonal study (gonadal failure); increased FSH and LH
3. Thyroid profile (more prone to hypothyroidism).
2. Imaging
1. X ray to determine bone age
2. Echocardiography: may be aortic coarctation
3. Abdominopelvic ultrasound: may be renal anomalies (horse shoe, ectopic kidney:
40% of cases), uterine anomalies, ovaries (streaks of connective tissues).
TTT:
1. Recombinant Growth hormone to reach at least 5 feet height.
2. Estrogens: To induce the development of 2ry sex characters (Start at 11-12 years).
3. Follow up thyroid function.
4. Management of any associated conditions e.g., aortic coarctation
11
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Allergic disorders
A 12 years old boy is brought to the emergency department after being stung by a bee. He
initially complained of localized pain and swelling. Fifteen minutes later, he began to
complain of shortness of breath and wheezed. He felt weak and dizzy. On examination,
he is drowsy and pale, and in mild respiratory distress, he has generalized urticaria. His
lung examination shows mild wheezing with minimal retractions
Insect bite hypersensitivity – anaphylaxis
INV:
?????
TTT:
Management:
1. ABCS:
a. Establish airway, assess breathing: 100% 02
b. Assess circulation and establish IV access.
2. Drugs:
a. Epinephrine: 0.01 ml/kg (IM) is the most important
b. Antihistaminic: Histamine 1 receptor antagonist (diphenhydramine) orally
c. Anti-inflammatory: Corticosteroids: I.V. hydrocortisone.
d. Nebulized salbutamol for bronchospasm
3. Treatment of shock will also require
a. Trendelenburg position
b. 20 ml/kg ringer or saline
Cardiac disorders
A 10-year-old boy presents with fever and joint pains, initially the pain affected his right
wrist, but now affects his left wrist and right ankle. He had tonsillitis 4 weeks previously
treated with oral penicillin. On examination, his temp is 38.7 C respiratory rate 20/m, and
heart rate 110/m. His left wrist and right ankle are tender
What is your diagnosis: Rheumatic fever (arthritis and carditis?)
Mention possible investigations and treatment
12
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
INV:
1. Acute phase reactants
• CBC: Leukocytosis
• Elevated ESR and CRP
2. Evidence of recent Streptococcal infection:
• Recent scarlet fever.
• Positive throat culture.
• Rapid antigen test.
• Antistreptococcal antibodies.
• High titer of:
✓ Antistreptolysin O titer (ASOT).
✓ Antistreptokinase.
✓ Antihyaluronidase.
✓ Anti-DNase.
3. Cardiac assessment
• CXR: Cardiomegaly
• ECG. Tachycardia and prolonged PR interval
• Echocardiography: assesses chamber enlargement, valve affection, and cardiac
contractility and detects pericardial effusion.
TTT:
Prevention:
1. Primary prevention
• Prevention of Streptococcal infection: good housing and adequate ventilation.
• Tonsillectomy for frequent recurrence.
• Proper treatment of Streptococcal throat infection:
✓ IM Benzathine penicillin 1.200.000 IU once (Sensitivity skin test is essential) is
the best treatment
✓ Alternatively oral Penicillin V 15 mg/kg/day: for 10 days or oral amoxicillin 50
mg/kg/day for 10 days
✓ Oral erythromycin (20 mg/Kg/day twice daily for 10 days): in patients allergic
to penicillin.
13
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
❖ Primary prevention is difficult because:
30% of streptococcal pharyngitis are subclinical
30% of patients pass to RHD after subclinical carditis.
2. Secondary prevention (Prevention of recurrence of rheumatic fever)
Indicted in all patients with documented history of rheumatic fever or isolated chorea.
Drugs used:
a. Benzathine penicillin:
• IM: every 2-3 weeks (sensitivity skin test...).
• Dose: 1.200,000 IU for weight ≥ 20 Kg and 600.000 IU for weight less than 20
Kg.
• Duration: 10 years after the last attack or till the age of 21 years whichever
longer then reassess:
o No RHD: stop prophylaxis.
o RHD: continue till the of 40 years or longer.
b. Oral penicillin 250 mg twice daily.
c. Penicillin sensitive patients: erythromycin 250 mg twice daily.
d. Oral sulphadiazine 0.5 gram once daily.
Treatment of acute rheumatic fever
A) Antibiotics:
• IM Benzathine penicillin: 600.000-1.200.000 IU (Sensitivity skin test is essential).
• Given to eradicate streptococci and serves as the 1st dose of penicillin prophylaxis.
B) Supportive Management
a. Diet:
• Salt restriction in cases of heart failure.
• Fluid restriction in cases of severe heart failure.
b. Rest: For patients with arthritis, carditis or heart failure.
C) Specific Management
a. Arthritis:
• Salicylates 100 mg/Kg/day, 4 times/day for 2 weeks followed by 75
mg/Kg/day, 3 times/ day for 2-3 weeks
14
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
b. Carditis:
• Prednisone: 2 mg/Kg/day 4 times daily for 2 weeks with gradual tapering
(Over 4 weeks).
• Salicylates: 75 mg/Kg/day 3 times daily started with steroid tapering and
continued for 6 weeks.
c. Chorea:
• Phenobarbitone: 15 mg/Kg/day.
• Haloperidol: 0.5-2 mg/kg/day.
• Carbamazepine or valproic acid can be considered in severe cases.
D) Treatment of complications
a. Heart failure: see later
b. Rheumatic heart disease:
• Medical: rheumatic activity and infective endocarditis
• Surgical: Valve repair or replacement
A 3 months old boy presents with poor feeding, excessive sweating during feeding, and
poor growth. On examination his respiratory rate is 80/minute, and blood pressure is
90/65 mmHg in the upper and lower extremities and the heart rate is 180 per minute. The
cardiac exam reveals a systolic thrill and a grade 4 pansystolic murmur at the left sternal
border
What is your diagnosis? Congenital Acyanotic heart disease: VSD complicated with 1st
degree heart failure.
INV:
For VSD:
1. Chest X ray:
• Heart: biventricular enlargement
• Chest: Lung plethora
2. ECG: biventricular hypertrophy (mainly the left ventricle).
3. ECHO will assess.
• Position and size of the defect and blood flow across.
• Pulmonary pressure.
• Cardiac dilation and efficacy of contractility.
15
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
For 1st degree heart failure:
1. Chest x ray.
2. ECG: to diagnose arrhythmia.
3. Echocardiography: chamber size and cardiac anomalies.
4. Laboratory: arterial blood gas, CBC, ESR, CRP, ASOT and cardiac markers (CK-MB)
TTT:
For VSD:
A) Medical:
• Infective endocarditis (Prophylaxis and treatment).
• Proper nutrition.
• Management of HF.
• Treatment of chest infections.
B) Surgical closure (Surgery or catheter):
Indications:
a. Large defect with failure of medical treatment
b. Infant 6-12 months old with large VSD and pulmonary hypertension
• Surgery should be delayed in stable child with moderate VSD. "Spontaneous closure"
• Surgery is contraindicated in patients with Eisenmenger syndrome
• Heart-lung transplantation is the only surgical option for Eisenmenger syndrome
• Pulmonary artery banding: to limit increased pulmonary blood flow may be useful in
multiple muscular VSD
For 1st grade heart failure:
Management of acute congestive heart failure:
Treatment of heart failure: grade I.
1. Supportive measures:
• Rest in semi sitting position
• Fluid restriction to 60-70%
• If distressed, IV fluids are used initially.
• Then, nasogastric tube feeding, oral when tolerated Salt restriction
• Oxygen therapy: to reduce distress and correct hypoxia
o Given warm and humidified by mask or nasal prong
o Initial FiO2: 40% - 60%.
16
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
2. Digoxin therapy to improve myocardial contractility:
• Digoxin: (increase cardiac contractility):
• Digitalizing dose: IM or IV 0.05mg/kg (given in 3 doses over the first 24 hours)
• Maintenance dose: 0.01mg/kg/day in 2 divided doses; IM or IV, oral when tolerated
• Neonates and small infants require lower doses
3. Diuretic therapy: Furosemide (Lasix) to reduce preload:
• IM or IV 1-2mg/kg/dose/ 12 hours
• Shift to oral if tolerated
• Monitor K and avoid hypokalemia
4. After load reducing agents
• ACE inhibitors as Captopril 0.5-2 mg/Kg/day in 2-3 divided doses
Treatment of pulmonary edema: grade II as grade I but:
1. Pre load reduction Diuretics: IV, higher doses and can use vasodilators as
nitroglycerin infusion.
2. Inotropes: IV digoxin and can use others as dobutamine
3. Continuous positive airway pressure (CPAP) or mechanical ventilation according to
severity.
Treatment of cardiogenic shock: grade III:
1. Inotropic drugs (IV dopamine or dobutamine IV or both or IV milrinone) not digoxin
as it is slowly acting and high risk of toxicity
2. After load reducing agents (vasodilators): Captopril: 0.5 to 6 mg/kg/day in 2 to 4
doses
Specific treatment according to the causative disease e.g., rheumatic fever.
17
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
An infant 11 months old presenting with bluish discoloration noticed by the mother 3
months ago. There is history of feeding difficulties, exertional dyspnea and recurrent
attacks of cyanotic spells where the baby becomes more cyanosed with marked
tachypnea. Examination revealed central cyanosis, and ejection systolic murmur over the
2nd left Space.
What is your diagnosis? Fallot complicated with cyanotic spell.
Mention possible investigations and treatment.
INV:
1. CBC: ↑↑ Hb and ↑↑ hematocrit (microcytosis if there is iron deficiency).
2. Chest X ray: Coeur en Sabot (= Boot-shape).
3. ECG: Hypertrophy of the right atrium and right ventricle.
4. ECHO.
5. Cardiac catheterization: if indicated to visualize the coronary and pulmonary arteries.
TTT:
Treatment of the fallot:
A) Medical
• Hypercyanotic spells: Propranolol
• Iron
• Infective endocarditis (Prophylaxis and Rx)
• Partial exchange transfusion (using FFP or albumin), When? If hematocrit is > 6570%
• Prostaglandin (PG1): in duct dependent pulmonary circulation (done in severe
cases presenting in neonates)
B) Surgical
a. Palliative: Blalock-Taussig (anastomosis between Subclavian artery and the ipsilateral
pulmonary artery). Can be considered as "artificial PDA"
b. Total correction (at 6-9 months): Closure of VSD, infundibular resection and
pulmonary valvotomy
18
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Treatment of the hypercyanotic spells:
•
•
•
•
•
•
•
Positioning (knee-chest position/squatting)
O₂ therapy
IV fluid
NaHCO3: to correct acidosis
Sedation (SC Morphine)
IV B-Adrenergic blockers (Propranolol): to relax the infundibulum
IV alpha agonist (increase systemic resistance)
A 5 hours old male newborn on the postnatal ward is noticed to be blue around the lips
and tongue. The baby was born by normal vaginal delivery and weighted 3.8 kg. The
APGAR SCORES were 7 at 1 minute and 8 at 5 min. On examination the temp is 36.6 C,
his lips tongue and extremities are cyanosed. He is crying normally. Heart rate is 160 /m
femoral pulses are palpable and second heart sound is single, oxygen saturation is 70% in
air and does not rise with oxygen mask.
Congenital cyanotic heart disease: TGA.
INV:
1. CBC: ↑↑ Hb and ↑↑ hematocrit
2. CXR:
• Heart: Egg-on-side, narrow pedicle (narrow upper mediastinum)
• Chest: Lung plethora (↑↑ PVMs)
3. ECG: Hypertrophy of the RV
4. ECHO.
TTT:
1. Prostaglandin: maintains the patency of ductus arteriosus (immediately after birth
2. Catheter: balloon atrial septostomy: Rashkind procedure (urgent shunt)
3. Surgical repair: Within the first 2-3 weeks of life: Arterial switch
19
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Respiratory disorders
A 5 months old boy developed a runny nose and a cough 2 days previously, but has
become progressively and has now gone off his feeds. He has two older siblings who also
have colds. On examination, he is febrile. 37.8, has clear nasal secretion and dry wheezy
cough. His respiratory rate is 65 /m with intercostal and subcostal retraction. On
auscultation, there are widespread fine crackles and expiratory wheezes.
Acute bronchiolitis
INV:
1. Chest x-ray: hyperinflation of the lungs with focal atelectasis.
2. Blood gas analysis: hypoxia- CO2 retention.
3. RSV antigen detection from nasopharyngeal secretions.
TTT:
1. Infants with minimal or mild respiratory distress (at home):
a) Close observation: Increasing distress is an indication for hospitalization.
b) Drugs as cough medicines and bronchodilators are generally not helpful.
c) Careful feeding to avoid aspiration.
2. Infants with moderate to severe respiratory distress (at hospital):
a. Oxygen therapy to correct hypoxemia.
b. I.V maintenance fluid therapy to prevent dehydration.
c. Nebulized salbutamol may be used and some infants may benefit.
d. Corticosteroids are not beneficial and antiviral agents (as ribavirin) are not
necessary.
e. Mechanical ventilation may be rarely used in those with severe respiratory failure
not responding to the above measures (see Pediatric emergencies).
A 3-year-old boy was seen because of a cough and fever and was diagnosed as having a
viral upper respiratory tract infection. On examination, he miserable, flushed, toxic and
febrile 38.8 C. His pulse is 140 beats/m His respiratory rate is 48 breath/m with nasal
flaring. There is dullness to percussion in the right lower zone post. With decreased
breath sounds and bronchial breathing
Lobar pneumonia
20
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
INV:
1. Chest X-ray:
a. Confirm the diagnosis.
b. Complications: effusion- empyema- pneumothorax- lung abscess.
2. Blood gas: in severe cases lowered O2 tension and raised CO2.
3. CBC, ESR, CRP: DD/ bacterial and viral causes.
4. Culture and sensitivity test: morning nasopharyngeal aspirate or sputum culture.
TTT:
For pneumonia:
A. Hospital management (7-10 days):
1. Indications
• Severe pneumonia (severe RD) or complicated pneumonia.
• Small infants (Less than 6 months).
2. Supportive measures: Humidified oxygen - IV fluid (NPO) - suction - mechanical
ventilation.
3. Specific treatment: Broad spectrum combined parenteral antibiotics to cover G+/(Ampicillin 50-100 mg/kg/day + gentamycin 4-6 mg/kg/day). Antibiotics may be
changed according to results of culture and sensitivity and clinical response.
4. Treatment of complication:
• Drainage of empyema.
• Mechanical ventilation (in respiratory failure).
B. Home management for most cases:
1. In Older children with mild pneumonia without distress.
2. Oral or better intramuscular antibiotics.
3. Amoxicillin 50 mg/kg/day or better broader-spectrum antibiotics such as
amoxicillin-clavulanic acid for 7-10 days.
21
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
A 3 years old girl presented 4 days previously with a cough and fever and was diagnosed
with viral upper respiratory tract infection. On examination, she is febrile 38.8 with
capillary refill of 2 seconds. Her pulse is 140/m, oxygen saturation is 85% in air and BP
is 85/60. Her respiratory rate is 48/m with nasal flaring. There is dullness to percussion in
the right lower zone post. With decreased breath sounds and bronchial breathing. Oxygen
saturation is given, however respiratory distress worsens (RR more than 60/m, severe
Intercostal recession. She becomes cyanosed and lethargic
Pneumonia with respiratory failure
INV:
1. Chest X-ray:
a. Confirm the diagnosis.
b. Complications: effusion- empyema- pneumothorax- lung abscess.
2. Blood gas: in severe cases lowered O2 tension and raised CO2.
3. CBC, ESR, CRP: DD/ bacterial and viral causes.
4. Culture and sensitivity test: morning nasopharyngeal aspirate or sputum culture.
TTT:
For pneumonia:
A. Hospital management (7-10 days):
1. Indications
• Severe pneumonia (severe RD) or complicated pneumonia.
• Small infants (Less than 6 months).
2. Supportive measures: Humidified O2 - IV fluid - suction - mechanical ventilation.
3. Specific treatment: Broad spectrum combined parenteral antibiotics to cover G+/(Ampicillin 50-100 mg/kg/day + gentamycin 4-6 mg/kg/day). Antibiotics may be
changed according to results of culture and sensitivity and clinical response.
4. Treatment of complication:
• Drainage of empyema.
• Mechanical ventilation (in respiratory failure).
B. Home management for most cases:
1. In Older children with mild pneumonia without distress.
2. Oral or better intramuscular antibiotics.
3. Amoxicillin 50 mg/kg/day or better broader-spectrum antibiotics such as
amoxicillin-clavulanic acid for 7-10 days.
22
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
A 12-year-old boy is referred by his GP with a chronic nocturnal cough. He has been
losing weight and has had a poor appetite 3 months ago. He lies with his mother and three
younger siblings in a damp two bed room flat and his mother has also been coughing a lot
over the last month with occasional blood-tinged sputum. They are uncertain which
immunizations he has received. On examination, he is very thin and his weight is on the
3rd percentile. His heart rate is 80/m and his respiratory rate is 26 breaths /m. There is no
wheeze but there are bronchial breath sounds in the right upper zone of his chest
TB pneumonia
INV:
1. CBC: Lymphocytosis.
2. ESR: Very high ESR usually above 100.
3. Tuberculin test: Mantoux test is the most important immunological diagnostic tool.
4. Isolation and culture of organism:
• Set sputum or morning gastric aspirate
• Direct smear with ZN stain
• Culture on a Lowenstein Jensen medium (4 weeks)
• BACTEC culture (10 days only)
➢ Quantiferon TB test: (good negative test) it depends on the release of IFN Y from the
patient's T lymphocytes.
➢ Biopsy of lymph nodes or pleura: For pathological study.
➢ Radiological studies: Chest x-ray and chest computed tomography (CT scan).
➢ Recent methods for diagnosis: Usage of ELISA and PCR (polymerase chain reaction).
TTT:
In the book P. 98-99.
A9 year old boy is seen in the emergency department. This is his third attendance with an
acute wheeze in the 3 months. He has developed a cold and became acutely breathless.
On examination, he is quite but able to answer questions with short sentences. His chest
is hyper inflated and he is using his accessory muscles of respiration. On auscultation
there is equal but poor air entry with widespread expiratory wheeze. His pulse is 125 /m
with good perfusion.
Acute severe asthma
23
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
INV:
Chest X-ray, peripheral blood eosinophilia.
TTT:
In the book P. 110 -114.
Hepatology
A 12-year-old boy is brought to the clinic by his parents He has been complaining of mild
abdominal pain and his parents noticed that the sclera looked yellow. He has been
scratching himself mildly. The parents report that he had flu like illness with fever nausea
and poor appetite over the last 10 days. He has previously been healthy, but he went to a
summer camp 5 weeks previously on examination he is jaundiced and appears
uncomfortable but alert and fully oriented. His temp is 37.8 C and his liver is palpable 4
cm below the costal margin and mildly tender.
Acute hepatitis
INV:
➢ To diagnose liver cell injury
1. Bilirubin: direct or mixed hyperbilirubinemia.
2. AST (aspartate aminotransferase) and ALT (alanine aminotransferase) are elevated
(10 folds).
3. Urine analysis: bilirubin is present.
➢ To diagnose acute hepatic failure
1. Raising Bilirubin level (above 10 mg/dl, level above 20 mg/dl may also occur.
2. Liver transaminases (ALT, AST) are increased (10-100 times normal).
3. Low serum albumin (below 3 gm/dl occurs later because of long half-life of
albumin
4. INR (international normalized ratio) 22, uncorrectable with vitamin K or between
1.5 and 1.9 uncorrectable with vitamin K plus encephalopathy.
5. High blood ammonia level
6. Metabolic Acidosis.
7. Hypoglycemia, Hypokalemia and Hyponatremia.
24
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
➢ To diagnose the causative virus (hepatitis markers)
1. Hepatitis A:
• IgM antibodies to hepatitis A (anti HAV IgM): recent infection (acute disease).
• IgG anti HAV antibodies persist after recovery (immunity).
2. Hepatitis B:
• HBsAg (surface antigen) followed by anti HBc (core antibodies) IgM: indicate
recent infection.
• Anti-HBs (surface antibodies) appear after recovery and indicate immunity.
• Persistence of HBsAg (surface antigen) and anti HBc IgG indicate chronicity.
3. Hepatitis C
• Anti-HCV antibodies: these antibodies denote exposure to infection but do not
mean recovery or development of immunity.
• HCV-RNA antigen detected by PCR denotes viremia.
• Viral load can be assessed by quantitative PCR for treatment purposes.
4. Hepatitis D and E
• Anti-HDV and anti HEV antibodies (IgM).
• Hepatitis D virus antigen.
TTT:
Treatment of any correctable condition:
1. Post viral: oral Antiviral drugs e.g., for hepatitis B. oral direct acting antivirals (DAA)
for hepatitis C e.g., nucleotide/nucleoside analogue
2. Autoimmune hepatitis prednisolone and azathioprine.
3. Wilson disease: Penicillamine is a copper chelating agent (promotes urinary copper
excretion)
Liver supportive measures:
1. Nutritional support
• Vitamin, minerals and carbohydrate rich diet.
• Fat in the form of medium chain triglycerides.
25
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
2. Ascites
• Sodium and fluid restriction and diuretics.
• Albumin infusions or Paracentesis for refractory ascites.
3. Encephalopathy
• Treat precipitating factors e.g., GIT bleeding, sepsis
• Oral neomycin
• Protein restriction
• Oral lactulose to ↓ ammonia reabsorption (it ↓ colonic pH and ↑ colonic transit)
Liver transplantation in end stage liver disease: survival rate 70-90%.
4 weeks old full-term female presents to the office with increasing jaundice over the last
week. Her parents' report that 2 weeks previously, she began to have yellow eyes and
skin her stools is clay in color for the past 10 days along with dark urine. There were no
complications noted at birth. On examination her weight and height are at the 50th
percentile. Her skin is jaundiced with scleral icterus. Her liver is felt 4 cm below the
costal margin firm in consistency and no splenomegaly is noted.
Investigations and treatment: Neonatal cholestasis
INV:
1. Search for treatable cause:
• Galactosemia: reducing substance in urine or Galactose 1phosphate in blood while
the infant is receiving a lactose containing formula. Measuring the enzyme
galactose-1-phosphate-uridyl transferase in red cells.
• Septicemia and other bacterial infections: CBC, CRP, ESR, cultures.
2. Search for TORCH infections:
• Total IgM antibody: level above 18-20mg/dl is highly suggestive. Specific IgM
antibodies of TORCH agents e.g. CMV IgM. Must be done early in life within 3
weeks of age.
3. Search for metabolic conditions:
• α-antitrypsin assay (α-antitrypsin deficiency): normal serum level 150- 250mg/dl
• Tyrosinemia: → succinyl acetone in urine and aminogram.
26
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
4. Exclude choledochal cyst:
• By abdominal ultrasonography (visualization of a cyst separate from the gall
bladder related to biliary system).
5. Differentiation between neonatal hepatitis and extrahepatic biliary atresia:
• Persistent clay-colored stools, inspected by physician, suggestive of biliary atresia
• Abdominal ultrasound: non visualization of gall bladder in fasting infant
suggestive of biliary atresia
➢ Liver biopsy: the most important
• in neonatal hepatitis: giant cell transformation and degeneration of hepatocyte.
• In atresia: expansion of portal areas with fibrosis and bile duct proliferation.
➢ HIDA scan: Hepatobiliary iminodiacetic acid (radioisotopic scan): appearance of the
dye in the intestine excludes biliary atresia.
TTT:
A. Extra hepatic biliary atresia: early diagnosis is very important:
1. Correctable lesion (rare): direct drainage.
2. Non correctable lesion: Kasai operation, it must be done before 60 days to obtain
best results.
3. Liver transplantation for end stage liver disease.
4. Biliary atresia is the commonest indication for liver transplantation in infancy.
B. Treatment of correctable conditions:
1. Antibiotics for septicemia or urinary tract infections.
2. Elimination of lactose from diet in Galactosemia.
3. Surgical treatment of choledochal cyst.
C. Liver supportive measures:
1. Replacement therapy:
• Fat soluble vitamins
• Fat in the form of medium chain triglycerides
• Predigested formula
27
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
2. Symptomatic:
• Pruritis: bile acid binders as cholestyramine
• Varices: injection sclerotherapy or band ligation
• Hepatic encephalopathy: 10% glucose infusion, enema and oral neomycin
D. Liver transplantation: most common indication in infancy, especially in EHBA.
A 2-year-old girl was brought to the emergency department with sudden severe
hematemesis. History revealed umbilical sepsis during neonatal period. The child appears
pale and physical examination reveals a firm spleen palpable 7 cm below costal margin.
She does not exhibit hepatomegaly ascites or lymphadenopathy Laboratory findings show
a hemoglobin level of 6 gm/dl.
Portal hypertension - pre hepatic type
INV:
1. Upper GIT endoscopy: detect esophageal varices
2. Abdominal ultrasonography and Doppler:
• Direction of flow within the portal system.
• Patency of the portal vein and.
• Presence of portosystemic collaterals.
3. CT angiography and MR venography (demonstrate vessel patency).
4. Liver function test in other types.
5. Investigation for the cause:
• Hepatitis markers, autoimmune screening, sweet chloride test, liver biopsy.
TTT:
Management of variceal hemorrhage:
1. Emergency therapy for bleeding varices:
• Hospitalization: Anti-shock measures: blood transfusion, intravenous fluids.
• Correction of coagulopathy: vitamin k, fresh plasma, platelets transfusion.
• Nasogastric tube placement.
• H2 receptor blocker (ranitidine) IV to decrease risk of bleeding from gastric
erosion.
• Third generation cephalosporins.
• Vasopressin infusion if bleeding persists.
28
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
2. Emergency endoscopy (if hemodynamically stable): and either injection sclerotherapy
or band ligation.
3. Emergency shunt:
• Trans jugular intrahepatic Porto-systemic shunt (TIPSS)
• Surgical Porto-systemic shunts
Prevention of bleeding from varices:
1. Prevention of the first attack of bleeding:
• Avoid aspirin and non-steroidal anti-inflammatory drugs.
• β adrenergic blockers (Propranolol) to lower the pressure in portal area.
• Prophylactic sclerotherapy or band ligation.
2. Prevention of re-bleeding; in addition to the above, the following may be needed:
• Beta adrenergic blockers (propranolol) Endoscopic sclerotherapy or band ligation
• Surgical porto-systemic shunt
• Liver transplantation
GIT disorders
1 year old girl has had diarrhea and non-bilious vomiting for 2 days. In the fast 8 hours.
He vomited 5 times and passed 6 liquid stools. The infant passed a very little amount of
urine during the last day. On examination, HR is 135/m, respiratory rate is 45/m, his temp
is 37.7 and his capillary refill time is less than 2 seconds. His anterior fontanelle is
depressed; eyes are sunken, skin pinch returns back slowly.
Gastroenteritis with dehydration.
INV:
For Gastroenteritis:
A. To identify the causative organism:
1. Stool analysis: Parasites (E. histolytica & G. lamblia), WBCs (Bacterial etiology)
2. Stool culture & sensitivity: Bacteria & viruses
3. CBC, CRP, ESR, Blood culture: help in diagnosis of bacterial infections:
29
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
B. To detect complications:
1. KFTs (Urea & Creatinine): Renal failure.
2. Electrolytes: Na, Ca, K.
3. Blood gases: Metabolic acidosis.
4. Prothrombin time, platelet count, fibrin degradation products: DIC.
For dehydration:
?????
TTT:
In the book part 1: P.244-247
A 9 months old male infant is brought to the emergency department by his mother with a
4-days history of vomiting and diarrhea. On examination, respiratory rate is 45/m
unlabored. Proximal pulses are poor, distal pulses are absent and extremities are cool.
Capillary refill is 8 sec. HR is 185 /m and BP is 85/40. The infant is extremely lethargic
and responds to pain only, with a minimal grimace.
Gastroenteritis + Hypovolemic shock.
INV:
For Gastroenteritis:
A. To identify the causative organism:
1. Stool analysis: Parasites (E. histolytica & G. lamblia), WBCs (Bacterial etiology)
2. Stool culture & sensitivity: Bacteria & viruses
3. CBC, CRP, ESR, Blood culture: help in diagnosis of bacterial infections:
B. To detect complications:
1. KFTs (Urea & Creatinine): Renal failure.
2. Electrolytes: Na, Ca, K.
3. Blood gases: Metabolic acidosis.
4. Prothrombin time, platelet count, fibrin degradation products: DIC.
TTT:
In the book part 1: P.244-247
30
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
A 7 weeks old infant presents to the emergency department with 1 week history of nonbilious vomiting. His mother describes the vomit as very forceful. He has a good appetite
but has lost 300 gm since he was last weighed a week earlier. He has mild constipation.
On examination he is mildly dehydrated, his pulse is 170 beats/m, blood pressure 82/43
mm Hg and peripheral capillary refill 2 seconds. An olive like mass is felt in the right
upper quadrant of the abdomen.
Congenital hypertrophic pyloric stenosis.
INV:
Laboratory:
1. Hypochloremic metabolic alkalosis.
2. Hypokalemia.
Imaging:
1. Abdominal US: confirm the diagnosis.
2. Barium meal: only in doubtful cases (Narrow pyloric canal “string sign”.
TTT:
1. Correction of fluid & electrolyte disturbance.
2. Pyloromyotomy (Ramstedt).
3. Postoperative: the child can be fed the next day and is usually discharged within 2- 3
days of surgery.
A 7 months old infant was referred with a 2-days history of diarrhea with blood and
mucous in the stools. His mother states that he has periods of inconsolable crying which
are getting worse and more frequent. There is no history of contact with gastroenteritis, of
travel, or of bleeding disorders. On examination he has a temp of 37.9 his pulse rate
186/m, blood pressure is 80/44 and capillary refill is 3 seconds. He is difficult to examine
due to frequent crying. But when examined during. a period of quiet, a sausage-like mass
is felt on the right side of the abdomen.
Intussusception.
INV:
1. Abdominal US.
2. Plain X ray abdomen: distended loops, absence of gas in distant colon.
3. Barium enema: Claw sign of coiled spring sign.
31
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
TTT:
Depends of the time of presentation:
1. Air enema: pneumatic reduction.
2. Resection-anastomosis: in neglected cases.
Endocrinal disorders
The mother of a 2-week-old infant reports that since birth her infant sleeps most of the
baby; she has to awaken her every 4 hours to feed, and she will take only an ounce of
formula at a time. She also is concerned that the infant has persistently hard pellet like
stools On examination, you find an infant with normal weight and length, but with an
enlarged head. The heart rate is 75 beats/m and the temp is 36 C the child is still
jaundiced. You note large anterior and posterior fontanelle, a distended abdomen and an
umbilical hernia
Congenital hypothyroidism.
INV:
➢ Laboratory: Thyroid profile: T3, T4 and T.S.H.
1. Low T4 (normal range 5-12 microgram/dl).
2. High TSH (normal: 0.5 - 4 micro unit/L). TSH is markedly elevated (above 50
micro unit/L). It is the most sensitive test for primary hypothyroidism.
➢ Imaging:
1. Plain X ray: delayed bone age. it is characteristic for congenital hypothyroidism
2. Thyroid scanning (radioactive iodine: iodine 123) it is essential for diagnosis of the
cause (it can differentiate between aplasia, ectopic dysplasia, and malfunction of
the thyroid gland)
3. Thyroid Ultrasonography
➢ Neonatal thyroid screening
It is implemented in Egypt for all newborns to prevent mental retardation.
1. Timing: between 3 and 7th day of life.
2. Technique: a blood drop is obtained by heel prick on filter paper and analyzed for
TSH.
3. Interpretation: if TSH level > 20 mU/L, an immediate blood sample is withdrawn
and analyzed. If data are confirmed treatment is immediately initiated.
32
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
TTT:
Lifelong therapy with L-thyroxin to maintain normal growth, T3 and T4
1. Onset: should be started before 2 weeks to 3 weeks of age to reduce the risk of
impaired neurodevelopment.
2. Dose:
• Neonates: 10-15 microgram/kg/day.
• Children: 100 microgram/m²/day.
3. Monitoring:
• Clinical assessment
➢ Physical: Height every 3 months and Bone age every year.
➢ Mental development and I.Q. Sexual: Pubertal development should be
within normal.
• Laboratory assessment: good response is associated with:
➢ T4 on high normal.
➢ TSH on low normal.
With neonatal screening, the results of long-term intellectual development have been
satisfactory and intelligence should be in the normal range for the majority of children.
An 11-year-old girl is admitted with drowsiness and difficulty breathing. She was well
until 3 weeks previously, when she began feeling tired, thirsty and losing weight. On
examination she responds only to pain. Her breath has an abnormal smell, is deep and
rapid 25/m, her hear6 rate is 100/m and her temp is 36.8 C. She has cool peripheries and
capillary refill time of 5 seconds
Diabetic ketosis.
INV:
1. Blood glucose: hyperglycemia (blood sugar above 200 mg/dl)
2. Blood gas analysis: metabolic acidosis (pH<7.3, bicarbonate <15 mEq/L)
3. Urine analysis: glucosuria and ketonuria
4. Urea, creatinine and electrolytes (especially potassium)
5. Evidence of a precipitating cause e.g., infection (blood picture, blood and urine
cultures.
TTT:
In the book part 2: P.150-151.
33
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Blood disorders
A 5-year-old girl is referred to the pediatric clinic because of pallor and progressive
abdominal distention with a history of repeated blood transfusion since the age of 6
months. On examination she appears pale and she has yellow sclera. Her heart rate is
105/m. Her height and weight are below the 5th centile. She has a grade 2/6 ejection
systolic murmur at the left sternal edge she has HSM, BUT NO PURPURA OR
GENERALIZED LYMPHADENOPATHY
Chronic hemolytic anemia: Thalassemia major.
INV:
• CBC: low Hb, microcytosis, anisocytosis, target cells, poikilocytosis.
• Hemoglobin electrophoresis or High-Performance Liquid Chromatography (HPLC):
➢ In the affected child: Hb F is markedly elevated (10-90%) with reduced Hb A.
➢ Parents: increased of Hb A2 > 3.5% (normal: 3%).
TTT:
In the book part 2: P.189-190.
A 2-year-old previously well boy is brought to the office by his aunt. She reports that he
developed pallor and red urine and jaundice over the past few days. He has not been
exposed to a jaundiced person, but he is talking Sulphamethoxazole- trimethoprim for
otitis media His aunt seems to recall his 4-year-old brother having had similar problem
after a viral illness, which also caused a short-lived period of anemia and jaundice
Acute hemolytic anemia: G6PD.
INV:
➢ During the attack:
• CBC: Anemia (normocytic normochromic)
• Reticulocytosis in blood film (hemolysis)
• Chemistry: indirect hyperbilirubinemia -hemoglobinemia - hemoglobinuria
• Blood film shows Heinz bodies
34
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
➢ Between episodes:
• (Almost all patients have a completely normal blood picture with no jaundice).
➢ Estimation of enzyme activity after at least 3 weeks of hemolytic attack, because
immediately after hemolysis, bone marrow release reticulocytes with normal enzyme
level giving misleading normal result.
TTT:
• Urgent packed red cell transfusion (10 ml/kg) is lifesaving in very severe hemolysis
• Prevention of subsequent attacks: A list containing oxidants materials (drugs,
chemicals and food) should be given to parents.
An 18-month-old boy presents with a chief complaint of pallor. He is a picky eater taking
small amounts of meat and some vegetables; he survives mainly on bottles of milk. On
examination. He looks pale but not icteric. He is an active toddler. His heart rate is 100/m
and he has grade 2/6 ejection murmur at the left sternal edge.
Iron deficiency anemia.
INV:
➢ Blood picture:
• Low Hb.
• Microcytic hypochromic anemia
• Color index = Hb% divided by (RBC X2). It will be below 1.
• Reticulocytic count is normal. It shows mild increase with therapy.
➢ Blood chemistry:
• Low serum iron < 50mcg % (normal: 90-150 µg/dl).
• Low serum ferritin <10 ng (normal: 30-150 ng/ml).
• Increased iron binding capacity (normal: 250-350 µg/dl).
➢ Detect the cause:
• Adequate clinical history to discover dietary problems.
• Focused and systemic clinical examination to rule out other causes of anemia.
• Stool analysis: to detect Ankylostoma - blood in stool – bilharziasis.
• Endoscopy might be indicated: to exclude peptic ulcer or chronic H-Pylori
infection.
35
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
TTT:
Prevention:
1. Adequate supply of iron to pregnant female.
2. Making powdered formula well-fortified with iron.
3. Prophylactic iron therapy to premature.
4. Proper weaning by supplying iron containing foods.
5. Avoid cow milk introduction in the first year of life.
6. Provision of appropriate amount of iron rich food for infants and children according to
their age and economic resources.
7. Treatment of cause.
Treatment of:
A. Treatment of the cause: (Schistosomiasis: Praziquantel) (Ankylostoma: Albendazole).
B. Iron therapy:
a. Oral iron therapy:
• Ferrous sulfate or gluconate 3-6 mg/kg elemental iron in 3 divided doses/day in
• between meals, with the higher dose used in more severe cases.
• Failure to respond to oral iron = non-compliance or persistent cause
• Iron supplementation should be continued until the Hb is normal and then for a
minimum of a further 3 months to replenish the iron stores.
b. Parenteral iron preparations:
• Indications: poor compliance or malabsorption.
• Oral therapy is otherwise as fast, as effective, much less expensive and less toxic.
• Parenteral iron sucrose and ferric gluconate complex have a lower risk of serious
reactions than iron dextran, although only the latter is FDA approved for use in
children. but may affect pancreas
C. Diet: Rich in iron (Meat five, green vegetables) and vitamin C.
* Packed RBCs transfusion should never be necessary for dietary iron deficiency. Even
children with an Hb as low as 6 g/dL to 7 g/dL due to iron deficiency have arrived at this
low level over a prolonged period and can tolerate it.
36
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Successful iron therapy:
• BY DAY 1: Reduced irritability, improved appetite.
• By day 2; Erythroid hyperplasia in Bone marrow, show erythroid hyperplasia.
• By day 3: Reticulocytosis peaking at 5-7 days (good therapeutic test).
• By 1 month: elevated hemoglobin 0.4-1gm/dl.
• 4-6 weeks: Increased Stores.
A 2 years old child develops bruising and generalized petechie two weeks after a viral
syndrome. No HSM or lymph node enlargement is noted. The examination is otherwise
unremarkable Laboratory testing shows the patent to have a normal Hb, Hematocrit and
white cell count and differential. The platelet count is 15,000.
Purpura (ITP).
INV:
➢ CBC:
• Thrombocytopenia, usually < 20,000/mm³ (Normal: 150,000 - 400.000mm³)
• May be low Hb due to blood loss.
• Normal WBCs count with relative lymphocytosis.
➢ Bone marrow examination:
• Megakaryocytes are normal or increased in number with defective budding.
➢ Anti-platelet antibodies: are found in 60% of cases.
TTT:
1. In mild cases:
• Cutaneous hemorrhage only: conservative management and close follow up with
direct platelet count to ensure that the count is safely above 10,000.
• Avoid trauma and salicylate.
• Avoid non-steroidal anti-inflammatory medications.
• Advice the parents to attend to clinical care immediately if the child has active
bleeding other than cutaneous hemorrhage like gum bleeding or epistaxis.
37
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
2. In moderate cases: Persistent muco-cutaneous hemorrhage
• Prednisone: Dose 2 mg/kg/d.
➢ Action: It inhibits antibody synthesis & phagocytic activity.
➢ Duration 2 weeks followed by gradual withdrawal
• Intravenous immunoglobulin (IVIG): dose 0.8-1 gm/kg/day, Duration for 2 days.
➢ Action It causes rapid rise of platelet count (block the phagocytic activity)
3. In severe cases: (severe muco-cutaneous hemorrhage or intra-cranial hemorrhage)
• I.V. methyl prednisolone 20 mg/kg/day for 5 days
• Platelet transfusion after starting steroid +/- Fresh whole blood if needed.
• IVIG.
• Emergency splenectomy: final solution.
4. In chronic cases: (>12 months):
• Careful evaluation for associated disorders (E.g., SLE: frequent screening of
autoantibodies).
• Prednisone & IVIG.
• OR Splenectomy (75% curative).
• OR Immunosuppressive therapy (e.g., Rituximab- azathioprine- Cyclosporine).
A 4-year-old girl is referred to the pediatric unit with pallor and non-blanching skin rash.
She had a cold and sore throat 2 weeks previously. She is otherwise very well. On
examination she has no dysmorphic features. Her height and weight are on the 25th
centiles. There is no jaundice and she is afebrile. She is pale and clinically anemic There
are petechiae mainly on her limbs. No hepatosplenomegaly no enlarged L.N.
Purpura for investigations.
INV:
?????
TTT:
?????
38
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
A 5 years old girl was noticed to be pale and lacking energy. She was complaining that
her legs were aching. She had an ear infection with a high temperature that was slow to
respond to antibiotics. On examination she is quite and pale. Her temp is 37.8C. She has a
generalized lymphadenopathy. She is pale but not jaundiced. She has bruises on her
shins, left and right upper arm. The liver is 4 c below the right costal margin and her
spleen is palpable 2 cm below the left costal margin.
Leukemia.
INV:
1. CBC: anemia -thrombocytopenia - WBC (increased, decreased or normal)
2. Peripheral blood film may show blast cells
3. Bone marrow examination: is essential to confirm the diagnosis (blast cells) and to
identify immunological and cytogenetic characteristics which give useful
prognostic information.
4. Lumbar puncture to identify disease of CSF
5. Chest X-ray to identify mediastinal mass characteristic of t-cell disease.
TTT:
Treatment of ALL:
1. Supportive treatment:
• Blood & platelet transfusion
• Treating the infection
• Hydration
2. Chemotherapy:
Combination of chemotherapy
• Induction of remission: asparagenase -vincristine -prednisone – cytarabine.
• Intrathecal: methotrexate, hydrocortisone- cytarabine.
• Systemic continuation therapy: 2-3 years- (6 mercaptopurine – methotrexate).
3. Bone marrow transplantation in relapsing cases.
39
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
A 7-year-old girl presents with a 3 days history of rash and ankle swelling and painless
frank hematuria. She had a cold 4 weeks previously, but has otherwise been healthy She
received no medications and is fully immunized. On examination, she has palpabl non
blanching purple spots 1-4 mm in diameter especially over the shins and buttock! Her left
ankle is swollen, worm and tender with restricted movement.
Henoch Schönlein purpura.
INV:
On clinical basis (no specific lab finding).
• Laboratory:
1. Complete blood picture: normal platelet count.
2. ESR, CRP: elevated (inflammation).
3. Urine analysis (screen for hematuria).
4. Stool analysis (screen for occult blood in stool).
5. Blood Urea, creatinine and C3: screen for nephritis.
6. Ig A level (maybe elevated).
• Imaging:
1. Abdominal X ray and ultrasound if there is any doubt regarding gut perforation or
intussusception.
2. Magnetic resonance imaging and magnetic resonance angiography in cases with
CNS manifestations for diagnosis of cerebral vasculitis.
TTT:
1. Supportive treatment with maintenance of good hydration and electrolyte balance.
2. Control of pain with simple analgesics
3. Control of hypertension if necessary
4. Prednisone has been advocated with severe gastrointestinal disease or hemorrhage.
5. Management of HSP nephritis with IV methyl prednisolone and cyclophosphamide
A 3-year-old boy fell while playing in the garden; he developed a very painful swelling
of the right knee. He was born at 37 weeks gestation and experienced a prolonged
bleeding after circumcision that necessitated an urgent blood transfusion. A family
history of bleeding tendency is reported
Hemophilia.
40
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
INV:
1. Phase I coagulation defect (prolonged PTT).
2. Specific factor VIII assay (reduced below normal) Normal > 60% & Carrier 3060% (female).
• Mild hemophilia 5-30%: (bleeding with trauma or surgery).
• Moderate hemophilia 1-5%: (bleeding with minor trauma).
• Severe hemophilia < 1%: (spontaneous joint bleeding).
TTT:
Prevention:
Avoid trauma-aspirin - non-steroidal anti-inflammatory- make sure the child is
vaccinated against Hepatitis B virus - Physiotherapy prevents joint contracture.
Treatment:
1. Cold compresses minimize bleeding in mild cases
2. Replacement (essential in moderate or severe cases)
• I.V. infusion of cryoprecipitate (Plasma concentrate of factor VIII) (Dose: 25-50
Unit/kg every 12 hours). This dose applies to hemarthrosis. Various dose protocols
are present for different types of bleeding.
• I.V. infusion of Purified plasma derived factor VIII concentrate
• IV infusion of Recombinant factor 8.
• Prophylactic F VIII in severe hemophilia (2 times per week)
3. Desmopressin: In mild hemophilia A it increases endogenous release of FVIII
(ineffective in hemophilia B).
4. Physiotherapy specially after immobilization to prevent muscle wasting and joint
contracture.
Nephrology
A 4-years-old boy presents with a 2 weeks history of general malaise and puffiness of the
face. There is nothing of note in the history. Examination reveals generalized puffiness
with pitting edema of the lower limbs. There is mid abdominal distention, but no
tenderness or organomegaly. his scrotum appears swollen. His B.P is 90/65 mmHg
Nephrotic syndrome, Minimal lesion type.
41
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
INV:
A) Laboratory:
a. Urine:
• Urinalysis: Proteinuria (3+ or 4+).
• Urine protein/Creatinine ratio > 2.
• 24-hour urine proteins: > 40 mg/m²/hr. (needs timed urine collection which is
difficult).
❖ Proteinuria is selective (mainly albumin, no high molecular weight proteins).
b. Blood:
• Serum albumin < 2.5 g/dL.
• Serum cholesterol > 200 mg/dL.
• Kidney functions: Normal.
• Complement (C3 & C4): Normal (No consumption).
B) Imaging: Renal U/S
C) Invasive: Renal biopsy (not routine); indicated in:
a. Pre-treatment (when Minimal change nephrotic is unlikely):
• Age at onset < 1 yr. or > 10 yrs.
• Gross hematuria
• Persistent hypertension
• Renal impairment
• Hypocomplementemia (↓↓ C3 and/or C4)
• Family history of NS
b. Steroid resistant NS (SRNS) = Failure to achieve remission after 4-6 weeks of
steroid therapy
TTT:
In the book part 2: P.162-163.
42
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
A 5-year-old boy presents with a 3-days history of smoky colored urine. This is not
associated with dysuria, although his urine output is diminished. He had tonsillitis 4
weeks previously. There is no family history of note. On examination, he is paraxial and
well. Respiratory rate is 14 /m and pulse is 90/m with a blood pressure of 110/85 mmHg.
Abdomen is non-tender with no masses
Acute glomerulonephritis.
INV:
1. Laboratory:
A. Urine (Urinalysis):
• Color: Brown, tea or cola-like or smoky.
• Proteinuria (mild to moderate).
B. Blood:
• KFT (Urea & creatinine): may be impaired.
• Evidence of recent Streptococcal infection (↑ ASOT, throat or skin contact).
• ↓↓ in C3 (returns to normal within 8 weeks).
• Normal C4.
2. Imaging: Renal U/S.
3. Invasive: Renal biopsy is rarely indicated:
A. Severe renal impairment (Rapidly progressive GN = RPGN).
B. Persistent hematuria or proteinuria > 6-12 months.
C. Normal C3.
D. Persistent hypocomplementemia > 3 months.
TTT:
1. Place of treatment:
a. Home management: Most cases (complete recovery is the rule)
b. Hospital management: Complicated cases (renal failure, HF, encephalopathy)
2. General measures:
a. Diet:
• Salt restriction
• Fluid balance.
b. Rest: During the oliguric phase
43
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
3. Supportive treatment:
a. Edema:
• Salt restriction, fluid balance, diuretics (Furosemide 1-2 mg/Kg/day)
b. Hypertension:
• Salt restriction, fluid balance, diuretics (Furosemide 1-2 mg/Kg/day)
• Ca channel blockers (Amlodipine 0.6 mg/kg/day)
4. Treatment of complications:
a. Renal failure: Fluid balance, diuretics, dialysis (in severe cases)
b. Heart failure:
• Preload reduction: Diuretics
• Afterload reduction: ACE inhibitors
• Inotropes: Dopamine (digitalis should be avoided)
c. Hypertensive encephalopathy: Antihypertensive (IV Hydralazine or diazoxide)
A 5-year-old girl has been passing urine frequently for the last 2 days and complaining of
pain when doing so. She is febrile and had an episode of shivering. SHE HAS ALSO
complained of pain in her lower back and has vomited three times today. On examination
her temp is 39.1, her abdomen feels soft and is not distended, but there is significant
discomfort when palpating right loin.
Acute pyelonephritis.
INV:
1. Initial investigations:
A. Urine analysis:
• Pyuria (Pus cells> 5/HPF) is suggestive of UTI.
• WBC casts is suggestive of pyelonephritis.
• Not reliable (false positive & false negative results).
False Positive (Pyuria without UTI)
Fever
Dehydration
Nephritic syndrome (APSGN)
False Negative (UTI without pyuria)
Antibiotics therapy
TB
Closed infection (Obstructive uropathy)
B. Urine Culture:
44
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
•
•
•
•
It is essential for diagnosis and treatment.
Colony count > 100,000 single pathogen is diagnostic.
Any bacterial growth in a suprapubic aspirate or catheter sample is diagnostic.
The presence of more than one organism suggests contamination.
C. Others (in pyelonephritis):
• CBC: leukocytosis & neutrophilia.
• ESR, CRP & blood culture.
• Abdominal US.
2. Imaging studies in children with febrile UTI:
A. Ultrasonography.
➢ Indications:
• First episode of febrile UTI (pyelonephritis).
• Frequently occurring lower UTIs (cystitis).
➢ Value:
• Diagnosis of obstructive uropathy (hydroureter and hydronephrosis).
• Detection of renal scarring.
B. Renal scan (DMSA) (dimercaptosuccinic acid)
• Detection of renal scarring.
• Estimation of renal function (total & split function).
C. Voiding cystourethrogram (VCUG)
➢ Indications:
• Febrile UTI with abnormal renal US.
• Febrile UTI with abnormal renal scan (DMSA).
➢ Value:
• Diagnosis of VUR.
• Diagnosis of PUV & neurogenic UB.
45
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
TTT:
• Treatment should be started without delay then modified according to the culture
result.
• Hospital admission may be indicated if there is severe vomiting, infants < 3 months of
age or with poor oral intake
1. Antibiotic Therapy
a. Drugs:
• Ceftriaxone Or
• Cefotaxime Or
• Gentamicin + Ampicillin or Oral 3rd gen. cephalosporin (e.g., Cefixime)
b. Route: Oral or parenteral
c. Duration: 7-14 days.
2. Other Lines (for recurrent UTI)
• Adequate fluid intake.
• Frequent voiding.
• Ensuring complete bladder emptying.
• Avoid/treat constipation.
• Antibiotic suppressive therapy (Co-trimoxazole: 1/3 therapeutic dose single daily).
• Lactobacillus acidophilus (probiotic): Replaces pathogenic bacteria (prevention of
UTI).
• Cranberry juice: prevents bacterial adhesion.
An 8-year-old boy wets the bed most nights, does not walk up when it happens and there
is a large pool of urine. He has no previous medical problems and no recent illness. On
examination, his height is 140 cm) 75th centile and his weight is 35 kg (75th centile). His
blood pressure is 112/70 mmHg. Cardiovascular, respiratory and abdominal examinations
are unremarkable.
Nocturnal enuresis.
46
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
INV:
?????
TTT:
1. Simple Measures: (Children > 4 years):
a. Explain to the parent and child that the problem is common and beyond conscious
control so punishment should be avoided.
b. b.↓↓ Fluid intake in the evening
c. Urination before sleep
d. Waking the child up few hours after sleep to void
e. Rewarding for dry nights
2. Drug therapy (Children > 6 years):
a. Anticholinergic (↑↑ Bladder capacity): Oxybutynin: may be needed in nonmonosymptomatic nocturnal enuresis
b. Desmopressin (synthetic vasopressin analogue): Single night dose
c. Enuresis alarms (conditioning therapy): Auditory or vibratory alarm is attached to
a wetness sensor in the underwear (wake the child up for urination)
Neurology
A 13-month-old male was born at term by difficult vaginal delivery and birth weight was
4200 gm. At 6 months of age, his head control was poor. He is not able to sit or stand.
His height and weight are both between the 25-50th percentiles. Some primitive reflexes
such as the asymmetric tonic neck reflex persist and he has increased muscle tone
especially in his legs.
Spastic cerebral palsy.
INV:
For Cerebral palsy:
1. CT brain MRI brain
• May determine the location and extent of structural lesion.
• May show associated malformations or brain atrophy.
2. EEG.
3. TORCH screening to define the cause.
4. Auditory assessment and VEP:(visual evoked potential).
47
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
For Mental retardation:
➢ Laboratory:
1. Karyotyping if a chromosomal abnormality is suspected or if the child is
dysmorphic
2. TORCH screening for the mother and the child
3. Metabolic screening e.g., blood lactate -plasma amino acids - ammonia
4. Urine: amino acids - organic acids
5. Thyroid function tests.
➢ Imaging:
1. Cranial ultrasonography, CT or MRI to determine the degree of structural
abnormalities of the brain (brain atrophy, intracranial calcifications with
toxoplasmosis and CMV)
2. EEG.
3. Skeletal Survey.
➢ Hearing and vision assessment:
1. Visual evoked potential
2. Auditory brain stem response (ABR).
TTT:
By rehabilitation:
1. Physiotherapy.
2. Positioning and splints to prevent contracture.
3. Associated complications and neurological problems as
a. Epilepsy: antiepileptic drugs
b. Orthopedic management: Tendon releases in contracture
c. Treatment of chest infection
d. Special feeding program
A 15 months old boy presents with seizures associated with fever. He has been in good
4.4 health except for a high fever that developed today to about 38.8 C. He has slight
cough and mild nasal congestion Just prior to the seizures he was playing with some toys.
Past medical history is unremarkable. 104 Examination shows congested throat mucosa,
congested ear drums and normal neurological examination
Febrile seizures.
48
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
INV:
(NOT SURE ABOUT IT !!)
Evaluation:
1. Convulsions occur at the onset of rise of body temperature.
2. Evident extracranial Infection: Usually URTI or gastroenteritis
3. Exclude features of CNS Infections
4. Exclude other causes of seizures (trauma - toxins)
5. If we cannot exclude CNS infection: CSF examination is a must.
TTT:
A 13-month-old girl presents to the emergency department with a 2-days history of lowgrade fever runny nose and increasing fussiness. SHE ALSO DEVELOPED A
PETECHIAL RASH AND VOMITING. On examination, her temp is 39.6 C, heart rate
is 170/m. Respiratory rate is 50/m and blood pressure is 80/50. Her extremities are
mottled and her capillary refill is 4 seconds. While 4 - 4 trying to obtain an IV access, the
infant becomes more lethargic and her blood pressure drops further
Meningococcal septicemia.
Chemical
INV:
CSF examination:
1. Differentiating bacterial meningitis from tuberculous and viral meningitis (table).
2. Culture and sensitivity tests are essential: negative with (pervious intake of antibiotics
or in aseptic meningitis e.g., Viral).
3. Detection of antigens (PCR) and antibodies (ELIZA) of viral infection if viral
meningitis is suspected.
4. Ziehl-Nielsen stain of CSF if TB meningitis is suspected (may show acid-fast bacilli).
Aspect
Protein:
mg/dl
Glucose:
mg/dl
Cells/mm³
Normal
Clear
Bacterial
Turbid
Tuberculous
Opalescent
20-40
↑
marked ↑
40-80
60% of blood
↓
glucose
Lymphocytes ↑↑↑ Polymorph.
0-5
10-100,000
49
Viral
Usually, Clear
Normal or mild
↑
very low ↓
Normal
↑ lymphocytes
250-500
↑ lymphocytes
15-2000
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Other investigations:
1. CBC: marked leukocytosis with bandemia
2. Blood culture
3. Kidney functions test and electrolytes
4. Coagulation screen if DIC is suspected
5. If TB is suspected: chest X ray, tuberculin rest.
6. CT with contrast to detect meningeal enhancement
7. MRI brain for better visualization of cerebral infarcts.
TTT:
1. Supportive treatment:
a. I.V fluid if meningitis is complicated by shock (otherwise fluid is restricted
minimize cerebral edema: only 75% of maintenance is given).
b. Anticonvulsants: diazepam and phenobarbitone.
c. Assisted ventilation if respiratory failure occurs.co d. Subdural taps to evacuate
extensive subdural effusions.
2. Specific treatment:
a. Antibiotics: IV for at least 10- 14 days (in neonates 3 weeks). Initial antibiotics are
based on the patent's age, and then modified according to the result of culture and
sensitivity tests.
• Neonates and infants below 2 months:
Third generation cephalosporins e.g., Cefotaxime 200 mg kg/day plus ampicillin
100mg/kg/day.
• Infants and children above 2 months:
Third generation cephalosporin e.g., Cefotaxime 200mg/kg/day or ceftriaxone plus
vancomycin
b. Dexamethasone: in H influenza infection to decrease incidence of gliosis and
hearing loss
3. Follow up to detect late complications e.g., Epilepsy and mental retardation by
periodic monitoring of neurological and developmental status for (at least 2 years,
50
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
A 9-year-old boy presents in a confused state. He developed a fever 2 day previously.
And E4 had been complaining of headache, fever and photophobia. He had vomited once.
Previous history was unremarkable on examination, his temp was 38 C and he has mild
neck stiffness and photophobia. Heart rate is 82 beats/m and respiratory rate is 16
breaths/m. there are no other focal signs of infection.
CNS infection.
INV:
????? (I think its answer is the same with meningococcal septicemia)
TTT:
????? (I think its answer is the same with meningococcal septicemia)
A 4-year-old boy's parents complain that their child has difficulty walking. The child
rolled, sat and first stood at normal ages and first walked at 13 months of age. Over the
past several months however, the family has noticed an increase inward curvature of the
lower spine as he walks and that his gait has become more waddling. On examination, the
child is oriented and interactive with the physician with an average body built.
Enlargement of his calves has been noticed
Duchenne Dystrophy.
INV:
1. Serum CPK (creatine kinase). Marked elevation even at birth (can be used as
screening test).
2. Electromyography.
3. DNA studies: deletion on Dystrophin gene.
4. Muscle biopsy: diagnostic (absent Dystrophin).
TTT:
1. Nutritional support and physiotherapy.
2. Night splints to prevent contractures - Scoliosis is managed with a truncal brace
3. Treatment of chest infections and respiratory aids as CPAP.
4. Corticosteroids: to preserve mobility and prevent scoliosis (its action may be
inhibition of muscle proteolysis, anti-inflammatory effect.).
5. Gene therapy is now available.
51
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Rheumatology
For the past 7 weeks, a 3-years-old girl was increasingly reluctant to get up in the
morning and feel stiff all over. As the day goes by, her stiffness improves unless she has
been sitting for a while. On examination both knees and her right ankle are mildly
swollen and feel warm to touch, but there is no overlying skin changes. There is pain and
decreased range of movement. There are similar findings in the proximal interphalangeal
joint of the left index finger.
Rheumatoid arthritis.
INV:
?????
TTT:
?????
Infections
A 2-years-old boy is referred with a history of fever cough, runny nose and sticky eyes
for 6 days. On examination, his temp is 38.5 C. he is miserable and lethargic. He has a
wide spread maculopapular erythematosus rash, which is coalescing over the face, neck
and trunk. There is no respiratory distress but he is coughing. His nose is streaming with
catarrh and he has exudative conjunctivitis. He had not received all his childhood
immunizations due to parental concerns regarding vaccine safety
Measles.
INV:
?????
TTT:
Management:
Prophylaxis:
1. Active immunization: see immunization
2. Passive immunization with gamma globulin (0.25 ml/kg I.M) 2-5 days after exposure.
52
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Treatment:
1. Symptomatic: antipyretics - decongestants.
2. In immunocompromised patients, the antiviral drug ribavirin maybe used.
3. Antibiotics for complications as otitis media and pneumonia.
4. Large doses of gamma globulin in encephalitis to reduce complications.
5. Oral vitamin A (400,000 IU) modulates the immune response (reduces morbidity).
A 9 months old boy is brought by his parents because of fever for 5 days He has been
slightly irritable and feeling less than usual. His temperature measure at home has been
up to 40 C He looks quite well but his temp remains raised and no focus can be found. He
is admitted to the ward overnight for observation and his temp subsides. On the morning
ward round, he is found to have an erythematosus macular rash on his trunk.
Roseola infantum.
INV:
?????
TTT:
1. Antipyretics: for the high fever.
2. Sedatives: in infants susceptible to febrile convulsions.
A 7-years-old boy presents with fever, sore throat and a fine maculopapular rash for 2
days. On examination, he has enlarged erythematosus tonsils with exudates, enlarged
tender cervical lymph nodes and a strawberry tongue. A diffuse blanching rash with a
rough texture to touch is noted.
Scarlet fever.
INV:
Diagnosis is mainly clinical
1. Throat culture: group a beta hemolytic streptococcus.
2. Serologic tests: A significant rise of Antistreptolysin O titer (ASO titer).
3. CBC: Leukocytosis (PNL 10,000-20,000/mm³) and anemia 4. Elevated ESR
and CRP
53
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
TTT:
Prevention of droplet infection.
Treatment:
1. Antibiotic therapy:
• Oral penicillin V: 400. 000 IU/dose 4 times/day /10 days.
• Procaine penicillin: injection for 10 days.
• Erythromycin (50 mg/kg/day) in penicillin sensitive patient for 10 days.
2. Antipyretics for the high fever.
A 4-years-old boy is brought by his parents to the pediatric clinic with mild fever and a
few small blisters on the shoulder and chest. The parents state that fever was noted for 1
day, and then the skin lesions appeared. These lesions began as tiny papules which
progressed rapidly to vesicles. On examination, he has a widespread skin rash at different
stages, the rash is more concentrated on the trunk than the limbs. The parents report that
that have been several other children with similar lesions at his school.
Chickenpox.
INV:
?????
TTT:
1. Antipruritic agents (local and systemic)
2. Antipyretics.
• Aspirin should not be used as it increases the risk of Reye syndrome (acute
encephalitis with fatty infiltration of the liver)
3. Antibiotics are indicated only if secondary bacterial infections Occur.
4. Antiviral drugs: Acyclovir I.V in (immunocompromised - encephalitis - pneumonia)
A 10-years-old patient calls his parents from summer camp to state that he has had fever,
muscular pain (especially in the back), headache and malaise. He describes the area from
the back of his mandible towards the mastoid space as being full and tender and that his
ear lobe on the affected side appears to be sticking upward ad outwards. Drinking sour
liquids causes much pain. When his father calls your office, you remind him that he had
refused immunization for his child due to concerns regarding vaccine safety.
Mumps.
54
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
INV:
?????
TTT:
Prophylaxis:
1. Passive: mumps gamma globulins early in the incubation period.
2. Active: MMR vaccine.
Treatment:
Symptomatic: analgesics and antipyretics
Treatment of complications:
1. In orchitis: the testis should be supported with ice bags.
2. In encephalitis: control of convulsion and increased intracranial tens
Neonatal disorders
A term female infant was born to a 28-years-old mother by CS after an obstructed labor.
Apgar scores were 3 and 4 at 1 and 5 minutes, respectively. She required vigorous
resuscitation at birth and was admitted to the NICU under observation. She developed
generalized tonic clonic seizures 10 hours after delivery. On examination her tern was
36.8 C heart rate was 140/m and respiratory rate 60/m she is no respiratory distress but
she is sleepy. Head shoes mild molding. There is generalized hypotonia. Blood sugar and
calcium were normal.
Hypoxic ischemic encephalopathy.
INV:
1. Prenatal: Fetal biophysical profile - Doppler U/S (assess the cord blood flow).
2. Perinatal: blood gas analysis (acidosis) and saturation (hypoxia).
3. Postnatal:
➢ Laboratory:
a. Monitoring of ABG - saturation - blood glucose- serum electrolytes temperature - serum calcium.
b. Renal function -bleeding profile.
c. Liver function tests.
55
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
➢ Imaging:
a. Cranial ultrasound.
b. Electroencephalogram (EEG, cerebral function monitor) to detect: abnormal
background activity, early encephalopathy or seizures.
c. MRI: at 7-10 ± 14 days: bilateral abnormalities in basal ganglia and thalamus.
d. Echo (cardiac dysfunction and persistent pulmonary hypertension may occur).
TTT:
Prevention:
Good perinatal care and decision when to do cesarean section.
Treatment:
1. Proper stabilization to minimize neuronal damage
2. Treatment of seizures by anticonvulsants: discuss
3. Treatment of hypotension by volume and inotropic support
4. Treatment of hypoglycemia (glucose 10%) and hypocalcemia (Ca gluconate IV)
5. Therapeutic hypothermia (cooling to a rectal temperature of 33-34 C°) for 72 hours
Total body cooling and head cooling have shown to be effective in reducing brain
damage if started within 6 hours of birth
A 23-years-old lady in her first pregnancy is admitted to hospital at 29 weeks gestation
because she has had spontaneous rupture of membranes. Forty-eight hours later she goes
into spontaneous labor and a baby boy is delivered weighing 900 gm Two hours after
delivery. He develops marked subcostal and sternal recession with audible shunting
Respiratory distress syndrome.
INV:
1. Chest x-ray:
• Diffuse reticulogranular pattern
• Air bronchogram (air in the major bronchi appears in contrast with the white
background of collapsed alveoli).
• Complete opacification of both lung fields (white lungs) in severe conditions.
2. Blood gases hypoxia, hypercapnia and acidosis.
3. Electrolytes, calcium and glucose.
4. Other investigations: blood picture, C reactive protein and ESR.
56
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
TTT:
1. Basic life support measures:
a. Thermoregulation.
b. Correction of acidosis, fluid and electrolyte balance.
2. Prophylactic antibiotics until cultures appear (as RDS is clinically indistinguishable
from early-onset severe group B streptococcal disease).
3. Monitoring:
a. Heart rate, respiratory rate, arterial blood pressure and temperature.
b. Oxygen saturation by transcutaneous O2 pulse oximeter.
c. Arterial blood gases (Pa02, PaCO2, pH and base deficit).
d. Hemoglobin, electrolytes, calcium, glucose and albumin.
4. Correction of hypoxemia
a. In the delivery room: prophylactic Nasal continuous positive air way pressure
(CPAP)
b. NICU management: Nasal CPAP or Intermittent positive pressure ventilation
(IPPV) or high frequency ventilation in cases of risk of air leak.
5. Surfactant replacement therapy:
a. Natural or synthetic surfactant can be given via an endotracheal tube or other
routes.
b. Reduce the mortality rate 40%.
A term 4200 gm female infant was delivered by CS because cephalopelvic disproportion.
The amniotic fluid was clear, and the infant cried almost immediately after birth. Within
the first 15 minutes of life, however the infant's respiratory rate increased to 70
breath/minute, and she began to have mild chest retractions and intermittent grunting
respirations. The infant was transferred to neonatal unit. On admission, chest examination
showed bilateral fair air entry
Transient tachypnea of the newborn.
INV:
X ray:
a. Prominent pulmonary perihilar markings (dilated lung lymphatics).
b. Fluid in the interlobar fissures and small pleural effusion may be seen.
57
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
TTT:
1. Basic life supports and Monitoring.
2. Supplemental oxygen to maintain adequate arterial oxygen saturation.
3. IV fluids, then tube feeding until respiratory rate has decreased enough to allow oral
feeding.
A 4-day-old full-term infant is referred to the pediatric outpatient clinic by his GP
because of jaundice. This is the first baby of a 22-year-old mother His mother states that
the jaundice started within the first 24 hours of life, His birth weight was 3.7 kg on
Examination the sclera is yellow and the jaundice is extending to the palm and soles.
There are no other signs
Neonatal jaundice.
INV:
Serum bilirubin (total and direct) to determine type of hyperbilirubinemia.
In cholestasis conjugated bilirubin is more than 20% of the total:
A) Conjugated hyperbilirubinemia: Cholestasis: see hepatology
B) Unconjugated hyperbilirubinemia:
1. Blood picture:
• HB % and reticulocytosis hemolysis.
• WBC count and I/T ratio→ septicemia.
2. To exclude hemolytic disease:
• Blood grouping (ABO and Rh) for baby and mother.
• Coombs'test (to detect maternal antibodies that coat the baby's RBCs).
3. To exclude hemolytic anemia:
• Enzyme assay: G6PD deficiency.
• RBCs morphology and osmotic fragility test: spherocytosis.
4. If septicemia is suspected: CRP - ESR - cultures.
5. Thyroid profile: if not done in neonatal screening program.
58
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
TTT:
In the book part 1: 190-193.
A Newborn infant delivered at 34 weeks gestation by vaginal delivery after 96 hours of
ruptured membranes. His birth weight was 2 kg. A breast feed was attempted, but was
unable to suckle and swallow properly. At the age of 6 hours, he developed frequent
apneic episodes. On examination, the baby appears lethargic and hypotonic. His
temperature is 35.8 C
Neonatal septicemia.
INV:
1. CBC with differential:
• WBCs <5,000 cells/mm³ and ANC (Absolute Neutrophilic Count) <1,000 are most
predictive of infection
• WBCs >20,000 and Immature/Total neutrophils (I/T ratio) >0.3 are suggestive of
infection
2. CRP: serial measures:
3. Cultures:
Blood culture and other cultures (urine culture obtained by catheterization or suprapubic
aspiration, endotracheal tube and central line cultures)
4. Others:
• Hyperglycemia, metabolic acidosis may be present
• Thrombocytopenia, PT, PTT, INR in severely ill neonates
• Lumber puncture for suspected meningitis: CSF analysis (cells, protein, glucose) &
CSF culture
• Chest X ray and arterial blood gas for suspected pneumonia
59
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
TTT:
Treatment:
1. Antibiotics:
• Type: Empirically (first line): Ampicillin + Aminoglycoside (as gentamycin),
then according to results of the culture.
• Duration: 14 days in proven sepsis, 3 weeks in meningitis and 6 weeks in septic
arthritis.
2. Supportive:
• Respiratory support including mechanical ventilation for pneumonia.
• Volume and pressor support for hypotension and poor perfusion.
• Anticonvulsants for seizures.
Measures to prevent /minimize infections in the community, nurseries and NICUS:
I. Caregiver:
1. Hand washing by care givers: the most important.
2. Proper hygiene of the caregiver.
II. Baby:
1. Exclusive breast feeding (especially colostrum).
2. Keep cord dry and uncovered (no powder or antibiotic ointment application).
3. No unnecessary intervention- strict aseptic technique during procedures e.g., ET
intubation.
4. Proper management of IV lines.
III. Unit:
1. Cots and incubators should be well spaced.
2. Disinfection of equipment in general and humidifier in particular.
3. Proper nurse/patients ratio.
60
Mohamed M. Ismail
Case scenario
Modified by: Abdel Razak Ali Shadeed
Emergency
A 2-year-old girl had a running nose for 2 days, a cough for 1 day and developed noisy
breathing 3 hours ago. Her father had a cold the previous week. On examination, her
temp is 38; there is a loudly noisy breathing, mainly on inspiration and a barking cough.
Her respiratory rate is 40/m with suprasternal and substernal recessions. On auscultation,
there are no cracks or wheeze.
Croup (Acute laryngitis: stridor grade 3)
INV: ?????
TTT:
Home management: stridor grade 1.
1. Warm steam inhalation relieves minor obstruction.
2. Oral steroids or nebulized steroids
3. Close observation: worsening → hospital management.
Hospital management:
Indications:
1. Grade II.
2. Suspected bacterial disease.
3. Worsening of home treatment.
4. Grade III or IV (IV need immediate intubation).
Treatment plane:
1. Oxygen therapy (mask, head box) follow up by pulse oximetry.
2. Warm steam inhalation: ultrasonic nebulizer.
3. Parenteral steroids to decrease laryngeal edema.
4. Antibiotics in suspected bacterial disease.
5. Close observation: worsening endotracheal intubation.
Treatment of acute epiglottitis: ICU:
1. Endotracheal intubations (very skilled personnel).
2. Parenteral antibiotics: cephalosporin.
3. With proper treatment most children recover within 2-3 days.
4. Prophylaxis with rifampicin for close contacts.
N.B. Examination of the pharynx or larynx in children with epiglottitis may precipitate
complete airway obstruction and it should be avoided until airways are secured
61