A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder

J Gen Fam Med. 2020 Mar 18;21(4):146-147. doi: 10.1002/jgf2.314. eCollection 2020 Jul.


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.

Keywords: adrenoleukodystrophy; adrenomyeloneuropathy; clean intermittent catheterization; female carrier; overactive bladder.

Publication types

  • Case Reports