Contributed by Karen Deal, MD PhD, David Finegold, MD, Lydia Contis, MD, Lorna Cropcho, CLA (ASCP), MT (HEW), and Mohamed Virji, MD PhD.
Published on line in May 1997
This 3 month old white female was referred to Children's Hospital with pancytopenia (pretransfusion hemoglobin = 5 g/dL), failure to thrive, gastroesophageal reflux, and increased irritability. Medications included folic acid, cimetidine, and metoclopramide.
The child was the 2600g (5 lb. 11 oz.) product of an uneventful full-term pregnancy, born to a 31-year old gravida 3, para 2 woman. Labor, delivery, and early postnatal course were uncomplicated.
Physical examination at 3 months revealed a pale infant with height 53.5 cm (<5th percentile), weight 4.1 kg (< 5th percentile), and occipital-frontal circumference 41 cm (75th percentile). The child was afebrile and normotensive; however, she was tachycardic (heart rate, 172 bpm) and tachypneic (respirations, 60/min). No dysmorphic features were noted. The remainder of the physical and neurologic examinations were within normal limits.
The patient's sibling had an uneventful postnatal period and is developing normally.
Diagnostic studies were undertaken.
PERIPHERAL BLOOD/BONE MARROW EXAMINATION