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A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder
Koji Obara1, Erika Abe1, Nobuyuki Shimozawa2
1Department of Neurology National Hospital Organization Akita National Hospital Yurihonjo Japan.
Abstract:
A 65-year-old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract. Although she had noticed pollakisuria since her forties, she had not been followed up by any medical institutions until we diagnosed her as a female carrier with ALD. ALD is an X-linked pattern of inheritance that typically affects males, but many female carriers actually present slowly progressive myelopathy and neuropathy. Therefore, it is important to identify female carriers with ALD and treat them at the earliest stage possible.
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