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Question Date: 26/07/2023

Question: A 7-year-old boy presented with attention and behavioral difficulties. He was inattentive in school and needed to be reminded repeatedly. His mother said he daydreams most of the time. These symptoms were first noted approximately 9 months before presentation. Previously, he was normal in his preschool. His brother died at 1 year of age ?of an infection" On examination, he had difficulty with comprehension, often asking for commands to be repeated, and abnormal expressive language. His neurologic examination revealed impaired tandem gait, brisk patellar reflexes, and extensor plantar responses Brain MRI revealed T2 hyperintensities in the parietooccipital lobes bilaterally with an enhancing rim.

Options:

Elevated hexacosanoic acid (C26), the hexacosanoic acid to docosanoic acid ratio (C26:C22)
Elevated urinary sulfatides
Elevated urinary metanephrines
Elevated isovalerylglycine and 3-hydroxyisovaleric acid.

Correct Answer: Elevated hexacosanoic acid (C26), the hexacosanoic acid to docosanoic acid ratio (C26:C22)

Explaination: This case illustrates the clinical variability of the presenting manifestations of X-linked adrenoleukodystrophy. This patient has childhood cerebral adrenoleukodystrophy, whereas his brother likely died of an unrecognized adrenal crisis in the setting of an illness Very long chain fatty acids are elevated in Xlinked adrenoleukodystrophy

Reference: Waldman, A. T. Leukodystrophies. CONTINUUM: Lifelong Learning in Neurology 24, 130 (2018).