Adrenoleukodystrophy: A Rare Case Report

    January 1970 in “ Journal of Bangladesh College of Physicians and Surgeons ”
    MBA Mondol, MMR Siddiqui, Luna Wahab, Md Azharul Hoque, SU Khan, KM Rahman, QD Mohammad
    TLDR Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
    The document reported a case of an 18-year-old boy with adrenoleukodystrophy (ALD), presenting symptoms such as progressive hyper-pigmentation, vision and hearing loss, abnormal behaviors, and a seizure. Examination showed diffuse hair loss, optic atrophy, and sensoryneural deafness. Elevated CSF protein, high ACTH, low cortisol, and MRI findings supported the diagnosis of ALD. The report aimed to raise awareness of this rare, untreatable disease, emphasizing the importance of early diagnosis and genetic counseling to manage progression and reduce incidence.
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