A 6-month-old female was admitted for evaluation of failure to thrive. Born via an uncomplicated term vaginal delivery, she was noted to be small for gestational age without additional complications. Within the first month of life, she started having frequent post-feed emesis and quickly dropped off the growth chart. She was initially worked up for failure to thrive at 5 months of age. A routine lab evaluation noted a transaminitis, and upper gastrointestinal series and abdominal ultrasound were unremarkable. Her lab findings were attributed to malnutrition, and she was started on EleCare feeds every 3 hours. She demonstrated some initial weight gain; however, this was not sustained, and she was readmitted for further evaluation and nasogastric tube placement for continuous overnight feeds.

The child has no prior medical history of recurrent fevers or infections and had a normal newborn screen at birth. She has been meeting all developmental milestones.

Laboratory Evaluation: 

• WBC: 6.37 x 109/L 
• Hemoglobin: 10.9 g/dL 
• Platelets: 300 x 109/L 
• Absolute neutrophil count: 0.64 x 103/mcL
• Total bilirubin: 0.2 mg/dL 
• ALT: 606 unit/L 
• GGT: 60 unit/L 
• AST: 186 unit/L 
• LDH: 775 unit/L 

The genetics team was consulted to aid in evaluation of possible causes of failure to thrive, transaminitis, and neutropenia. With this clinical scenario, which gene would you be MOST interested in testing for? 

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Sarah McDermott, DO MBS and Lauren E. Amos, MD
Division of Pediatric Hematology/Oncology
Children’s Mercy Hospital, Kansas City, MO

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