SAMPLE
LUCILE PACKARD CHILDREN'S HOSPITAL
GENETICS
WORK TYPE 17
WORK TYPE MNEMONIC: INPTCON or INPTFUCON
Attending Physician:
Genetic Counselor or Resident:
Site of Consult:
Date of Consult:
Date of Birth:
REFERRING PHYSICIAN:
Louanne Hudgins, M.D.
Renata C. Gallagher, M.D., Ph.D.
Neonatal Intensive Care Unit
06/03/2003
05/27/2003
Susan Hintz, M.D.
DIAGNOSES:
1.
A 7-day-old, appropriate-for-gestational-age, 36-week female.
2.
Trisomy 21.
3.
Congenital heart disease: small membranous ventricular septal defect.
4.
Hepatosplenomegaly.
5.
Rule out sepsis.
6.
Rule out leukemia.
IDENTIFICATION: Baby Girl Doe is a 7-day-old, former 36-week infant
transferred from Watsonville Community Hospital to LPCH on 06/02/03 for
further evaluation and management. She has Down syndrome, confirmed today by
karyotype, hepatosplenomegaly, and blasts in a peripheral smear. Genetics has
been asked to consult because of the diagnosis of trisomy 21.
HISTORY: The history was taken from a review of the available medical
records. Baby Girl Doe's mother speaks a dialect called Mesteca and no
interpreter was available at the time of our evaluation. The records indicate
that there was limited prenatal care. Baby Girl Doe was born at 36 weeks' to
a 17-year-old, G1, P0-1 mother. Delivery was vaginal. Apgar scores were 6
and 8. The birth weight was 3449 gm (greater than the 97th percentile). The
birth length was 46 cm (25th-50th percentile). The birth head circumference
was 32 cm (25th-50th percentile). Features of Down syndrome were noted at
birth. In addition, the infant was found to have a protuberant abdomen. She
was taken to the special care nursery. She had tachypnea and developed an
oxygen requirement. An echocardiogram revealed a patent foramen ovale, a
possible perimembranous ventricular septal defect, patent ductus arteriosus,
and tricuspid regurgitation. A sepsis work-up was initiated for the tachypnea
and oxygen requirement. Blasts were identified on CBC. The initial blast
count was 27%; subsequent blast count was 13%. Baby Girl Doe was transferred
to LPCH on day 6 of life for further evaluation and management.
Baby Girl Doe had serial KUB radiographs for abdominal distention. Abdominal
ultrasound done for hepatomegaly on 05/31/03 showed a homogeneous and normal
echo texture without mass or biliary dilatation. The remainder of the
abdominal ultrasound was negative.
Chromosomes were sent on 05/28/03. This were available at the time of
dictation. The karyotype confirmed by Quest is 47,XX+21 at a 400-500-band
resolution.
SOCIAL HISTORY:
This information is not presently available.
FAMILY HISTORY:
The family history was not available.
REVIEW OF SYSTEMS:
CONSTITUTIONAL:
No concerns.
EYES:
She has not had formal ophthalmologic evaluation.
ENT:
She has not yet had her hearing screening.
CARDIOVASCULAR:
Echocardiogram at LPCH has identified a small membranous
VSD, small PDA, patent foramen ovale, and mild branch
pulmonary artery stenosis.
RESPIRATORY:
She remains on oxygen by nasal cannula.
GASTROINTESTINAL: She has a distended abdomen.
GENITOURINARY:
No current concerns.
MUSCULOSKELETAL: She has mild hypotonia.
SKIN:
She has areas of hyperpigmentation.
NEUROLOGIC:
Hypotonia.
HEMATOLOGIC:
Blasts identified on peripheral smear. Baby Girl Doe to
undergo bone marrow biopsy tomorrow to evaluate for the
possibility of leukemia.
PHYSICAL EXAMINATION:
GENERAL:
On physical examination today Baby Girl Doe is lying in her
NICU bed.
VITAL SIGNS:
Her head circumference is 32 cm (25th-50th percentile). Her
current weight is 2.9 kg. She has lost greater than 10% of
her birth weight. Heart rate 133, respiratory rate 41,
oxygen saturation on 0.15 liters of nasal cannula is 98%.
HEENT:
Examination of her head reveals a large anterior fontanelle.
The sagittal suture is widened and there is a large
posterior fontanelle. There is a caput over the right
parietal region. Examination of the ears reveals that they
are small with over-folded helices. They are somewhat
square in appearance. They are no posteriorly rotated or
low set. There are no preauricular pits or tags.
Examination of the eyes reveals up-slanting palpebral
fissures. The nose is small. There is a flat nasal bridge.
Examination of the mouth reveals that the corners are
downturned. There is a protuberant tongue at rest. In
general Baby Girl Doe's face is dysmorphic with features
consistent with Down syndrome including mid-face hypoplasia.
NECK:
The neck is short.
CARDIAC:
The heart is regular rate and rhythm. There is a grade 3/6
systolic ejection murmur heard best at the left upper
sternal border which radiates to the back and right chest.
THORAX:
The thorax is of normal shape.
BACK:
Examination of the back reveals a shallow sacral dimple.
ABDOMEN:
The abdomen is somewhat protuberant. The liver is three
fingerbreadths below the costal margin.
GENITALIA:
Normal female.
EXTREMITIES:
Examination of the extremities reveals neither polydactyly
nor syndactyly. Examination of the right hand was not
possible due to the peripheral IV. There was a single
transverse palmar crease on the left. There is fifth-finger
clinodactyly on the left. Examination of the feet reveals
creases between the first and second toes on the plantar
aspect of the feet bilaterally. This is a "sandal" crease.
SKIN:
NEUROLOGIC:
Examination of the skin reveals scant erythematous papules
on the abdomen, and reticulated areas of hyperpigmentation
on the chest.
There was good plantar grasp. There was mild hypotonia.
IMPRESSION/SUMMARY: Baby Girl Doe is a 7-day-old, former 36-week infant with
trisomy 21. Genetics has been asked to consult to provide counseling for the
family.
On physical examination Baby Girl Doe's features are consistent with Down
syndrome. She has large fontanelles, anterior and posterior. She has small
ears with over-folded helices, lending the ears a square shape. She has upslanting palpebral fissures. She has mid-face hypoplasia. She has a
downturned mouth with a protuberant tongue. Her neck is short. She has a
single transverse palmar crease on the left and clinodactyly on the left. She
has sandal creases as seen in Down syndrome. Karyotype has confirmed that
this is Down syndrome due to an addition chromosome 21.
We have informed the neonatologists that we would be happy to meet with Baby
Girl Doe's mother and other family members if they are available when an
appropriate interpreter can be arranged. While Baby Girl Doe's speaks some
Spanish, she is most comfortable in Mesteca. We and the neonatology staff
believe it is most appropriate to discuss Baby Girl Doe's diagnosis of Down
syndrome with her with a Mesteca interpreter. At present she is being
evaluated by the neonatology team and other consulting services for
hepatosplenomegaly, leukemia versus leukemoid reaction, and congenital heart
disease. We will follow along with these evaluations as they are being
performed and will speak to Baby Girl Doe's mother and additional family
members about the diagnosis when appropriate.
The Down syndrome in patients born to women who are 17 at the time of delivery
is 1:1565. This is a sporadic event. The recurrence risk for Baby Girl Doe's
mother to have another child with Down syndrome is 1%, or her age-related
risk. Her age-related risk will not reach 1% until 40 years of age. In a
subsequent pregnancy she should be offered amniocentesis. Recommendations for
health supervision of individuals with Down syndrome is available at the
American Academy of Pediatrics website. Individuals with Down syndrome are at
risk of thyroid problems, atlanto-axial instability, recurrent ear infections,
conductive hearing loss, and other medical issues. As Baby Girl Doe's family
does not live in the area, and as many pediatricians are comfortable with Down
syndrome, and as recommended medical treatment of individuals with Down
syndrome per the American Academy of Pediatrics website, it will not be
necessary for us to see Baby Girl Doe in follow-up in Genetics Clinic unless
additional concerns arise.
Thank you for involving us in the care of this patient.