X-Linked Adrenoleukodystrophy: A Rare Cause of Primary Adrenal Insufficiency
DOI:
https://doi.org/10.60591/crspmi.177Keywords:
Adrenal Insufficiency, Adrenoleukodystrophy/ geneticsAbstract
X-linked adrenoleukodystrophy is a rare disease characterized by a mutation in the ABCD1 gene, resulting in the accumulation of very long-chain fatty acids (VLCFAs).
We report the case of a 23-year-old man presenting with
adynamia, skin hyperpigmentation, and occasional episodes of nausea and hypoglycemia since he was 13- years-old. He was admitted due to general discomfort, vomiting, abdominal pain, and headache. Upon admission, he presented with hypotension, tachycardia, dehydration, pallor, weight loss, and tenderness in the right hypochondrium. His skin and tongue were both hyperpigmented. Etiological investigation revealed acute kidney injury with metabolic acidosis, hyponatremia,
hyperuricemia, hyperphosphatemia, hyperbilirubinemia, hypoglycemia, and ketonuria. He was hospitalized and diagnosed with primary adrenal insufficiency with the accumulation of VLCFAs, consistent with adrenoleukodystrophy, that was confirmed after analysis of the ABCD1 gene.
This case report illustrates how a genetic disease can go
unnoticed until adulthood, requiring a high index of suspicion.
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Copyright (c) 2024 Sandra Rebelo, Tiago Ferreira, Ema Nobre, Ana Tornada
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