Adrenal insufficiency Quiz: Ace Your Exams

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A three-year-old boy presents to his pediatrician with fatigue and concern for seizures. His parents describe that he has not been acting like himself lately and has had intermittent sustained jerking movements of his arms and legs. In addition, the patient has had intermittent vomiting and diarrhea but no fevers. He has met most developmental milestones but has difficulty copying a circle with a pencil and does not understand what “two” means. Vital signs are within normal limits, and physical examination is unremarkable. His workup is notable for a mutation in the ABCD1 gene, and a chemistry panel yields the following results:

A table lists serum chemistry values: Sodium 127 mEq/L, Potassium 5.2 mEq/L, Chloride 96 mEq/L, Creatinine 1.2 mg/dL, Albumin 3.2 g/dL, and BUN/Cr 14.

A table lists serum chemistry values: Sodium 127 mEq/L, Potassium 5.2 mEq/L, Chloride 96 mEq/L, Creatinine 1.2 mg/dL, Albumin 3.2 g/dL, and BUN/Cr 14.

Which of the following best describes the pathophysiology of this patient’s clinical presentation?

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De novo mutation of MECP2 on X chromosome

Accumulation of very long chain fatty acids in adrenal tissue

Inability to convert hypoxanthine to IMP and guanine to GMP

Accumulation of phytanic acid in plasma and peripheral tissue

Deficiency of arylsulfatase A enzyme