Review Question - QID 209133

A 4-month-old female presents with her parents to her pediatrician. The patient’s parents are concerned because she used to push up to her elbows during tummy time, but she now struggles to lift her head. She has been urinating and stooling well, but her parents report decreased interest in food. All prenatal screening for the patient was unremarkable. There is no family history of genetic abnormalities in the patient’s mother. The patient’s father was adopted and knows little about his biological family. The patient has two older siblings who are both developmentally normal. On physical exam, the patient appears well-developed and well-nourished. She is in the 40th and 48th percentiles for height and weight, respectively. She has no dysmorphic features. Her abdomen is soft and non-tender. Hepatosplenomegaly is present. Ophthalmologic exam reveals the finding seen in Figure A.
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