Adrenoleucodistrofia Cerebral En Un Escolar: Reporte De Caso

Abstract

Peroxisomal disorders are a heterogeneous group of inborn errors of metabolism, and X-linked adrenoleukodystrophy (X-ALD) is one of the most common, with an incidence of 1:17,000 men. Objective: To identify the clinical characteristics of primary adrenal insufficiency and X-ALD to make an early diagnostic suspicion and timely treatment. Case Description: 7-year-old male schoolboy. At the time of your first consultation, 3-month history of generalized discoloration "is turning black." Generalized hyperpigmentation on physical examination. Primary adrenal insufficiency was suspected, confirmed with cortisol and ACTH levels, and steroids were started. Subsequently, he presented progressive neurological deterioration, and the diagnostic possibility of X-ALD was raised, brain MRI and very long-chain fatty acid levels were performed, confirming the diagnosis. Conclusion: Rapidly progressive cerebral X-ALD is rare and should be suspected in the presence of clinical signs of adrenal insufficiency and affectation of neurological capacities. It should be confirmed with laboratory studies, magnetic resonance imaging, and determination of fatty acid levels of very long chain Early diagnosis is important to provide timely treatment such as steroids and hematopoietic cell transplantation.