Case Number 2
A late preterm infant boy was born at 36 4/7 weeks of gestation via
urgent c-section due to non-reassuring fetal heart tones and a
biophysical profile of 2/10, to a 27-year-old gravida 5 para 3 mother
with negative prenatal serologies. APGARS were 6 and 8 at 1 and 5
minutes of life respectively, birth weight was 2620g.
On DOL 1 the patient was noted to have epistaxis which prompted the OSH
to obtain a complete blood count, significant for a WBC of
184×103/μL (184 ×109/L) with 60%
blasts. Initial work up included an abdominal US which confirmed a
physical exam finding of hepatosplenomegaly. Due to leukocytosis and
presence of peripheral blasts the patient was transferred to our NICU
for further care with pediatric hematology-oncology consult.
Trisomy 21 was suspected based on facial features, single palmar crease,
and sandal gap deformity and confirmed with a rapid karyotype. Repeat
laboratory evaluation confirmed leukocytosis of
155×103/μL (155 ×109/L), peripheral
flow cytometry revealed 77% myeloid blasts. Hemoglobin and platelets
were within normal limits (WNL), electrolytes were WNL. Cytogenetics of
the blasts showed a gain of 21q and RUNX1, both consistent with the
diagnosis of Trisomy 21.
Laboratory evaluation showed hyperbilirubinemia and he received 4 days
of phototherapy and was started on Ursodiol for management of direct
hyperbilirubinemia. At 1 month of age the patient was discharged with no
major complications.