Diagnosed With Primary Adrenal Insufficiency? Search Adrenoleukodystrophy - Two Brothers Presented With Similar Phenotype

This case report describes the first documented instance of X-linked adrenoleukodystrophy (X-ALD) in two brothers from Bangladesh, confirmed by elevated very long-chain fatty acids (VLCFA). The 19-year-old index patient initially presented with adrenal insufficiency and later developed progressive neurological symptoms, including spastic paraparesis, cognitive decline, and behavioral abnormalities. His brother, initially asymptomatic except for Addison’s disease, eventually developed similar neurological impairments. MRI findings showed brainstem lesions and spinal cord atrophy in the index patient, and cerebellum and internal capsule involvement in his brother. Both brothers exhibited the pure adrenomyeloneuropathy (AMN) variety, but cognitive and behavioral symptoms suggested a cerebral form of AMN. As of 2023, the index patient survives with significant disabilities, while his brother passed away in 2019, five years after diagnosis.