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A 4-year-old male who was recently adopted presents with a history of abdominal distention and loose, foul-smelling stools. He does complain occasionally of abdominal discomfort. His parents report that he is picky in his food choices, but does eat large amounts of preferred foods and likes to carry food around with him at all times. He gets upset if this is not allowed. Hyperactivity and some atypical sexualized behaviors are reported. One year prior, his reported weight and height were below the 5th percentile for age. On presentation, his weight and height have continued to fall to below the 3rd percentile, while head circumference was tracking on the 50th percentile. Clinical exam revealed a mildly distended abdomen that was soft and nontender with no hepatosplenomegaly or masses. Exam also revealed a prominent forehead, an absent uvula, and unusual symmetric linear scars on the temples. No other abnormal features were noted. Developmental delay was noted for speech and visual motor skills. Lab testing revealed microcytic anemia (Hg 9, MCV 69), elevated absolute eosinophils (1100), and a positive PPD.
What is the most likely diagnosis?
No one correctly answered last issue’s Make the Diagnosis. The correct diagnosis is juvenile nephronophthisis, the topic of this issue’s cover story.
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