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Adult-onset adrenoleukodystrophy presenting with status epilepticus and psychosis
  1. Ami Mehul Mehta1,
  2. Mukhyaprana Prabhu2 and
  3. Gokul Krishnan2
  1. 1Kasturba Medical College, Manipal University, Manipal, Karnataka, India
  2. 2Department of Medicine, Kasturba Medical College Manipal, Manipal University, Manipal, Karnataka, India
  1. Correspondence to Ami Mehul Mehta; ami.mehta{at}


Adrenoleukodystrophy (ALD) is an X linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome, that affects 1 in 20 000 people. In X linked adrenoleukodystrophy (X-ALD), a defect in lignoceroyl-coenzyme A ligase causes pathognomonic tissue accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex and nervous system. The phenotypic variability ranges from cerebral inflammatory demyelination of childhood onset, leading to death within 5 years, to adults remaining presymptomatic through more than five decades. Our case is that of a man who was previously diagnosed with bipolar affective disorder presented with dystonic posturing. During transit, he had an episode of generalised convulsive status epilepticus. He presented with spasticity and exaggerated reflexes. Three important signs of adrenal insufficiency were observed: hypotension, hyperpigmentation and comatose state. The diagnosis of X-ALD should be considered in young men presenting with gradually progressive unexplained cognitive and behavioural problems, a strong family history, adrenal insufficiency, bilateral upper motor signs with absent ankle reflexes.

  • adrenal disorders
  • neuroendocrinology

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  • Contributors MP. Collected the history: MP. Performed the examination: MP. Contributed data on imaging: GK. Wrote the paper: AMM, GK. Critical revision of the paper: AMM, MP. Final approval of the version to be published: AMM, MP, GK. Compiled and submitted the data: AMM.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.