Approach to hypoglycemia (pediatrics) Quiz: Ace Your Exams

A 12-month-old boy is brought to the emergency department for lethargy. While in the emergency department, the infant develops generalized seizures. The family has moved a lot recently, and the patient has not seen a pediatrician in over six months. There is no history of fever, vomiting, or diarrhea. Past medical and surgical histories are unremarkable. The patient was born full-term without complications. Temperature is 37°C (98.6°F), pulse is 120/min, respirations are 30/min, blood pressure is 87/45 mmHg, and oxygen saturation is 99% on room air. Weight and height are at the 3^rd percentile for age. On physical exam, the infant is lethargic with moist mucous membranes. The anterior fontanelle is small but open and flat. The abdomen is soft and nontender, but it is distended, and hepatomegaly is noted. The cardiopulmonary exam is unremarkable. The patient’s point-of-care glucose in the emergency department is 25 mg/dL. The infant is stabilized and admitted. Laboratory studies are obtained, and a chart review reveals genetic testing. The results can be seen below. Which of the following additional physical exam findings would be expected in this patient?

Laboratory value	Results
Serum bicarbonate	15 mEq/L
Serum lactate	6 mmol/L (normal < 2.4mmol/L)
Genetic testing	Glucose-6-Phosphatase Catalytic (G6PC) gene mutation