Case 104 -- Anemia, Neutropenia, and Lactic Acidosis

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


PATIENT HISTORY:

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.


LABORATORY DATA

PERIPHERAL BLOOD/BONE MARROW EXAMINATION

GAS CHROMATOGRAPHY

MOLECULAR STUDIES

FINAL DIAGNOSIS


Case IndexCME Case StudiesFeedbackHome