{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T10:30:36Z","timestamp":1756463436449,"version":"3.44.0"},"reference-count":13,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,10,29]]},"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:p>Adrenoleukodystrophy (ALD) is an X linked recessive genetic disorder caused by an abnormality in the <jats:italic>ABCD1<\/jats:italic> 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.<\/jats:p>","DOI":"10.1136\/bcr-2021-244757","type":"journal-article","created":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T12:08:11Z","timestamp":1638274091000},"page":"e244757","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Adult-onset adrenoleukodystrophy presenting with status epilepticus and psychosis"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9319-2181","authenticated-orcid":false,"given":"Ami Mehul","family":"Mehta","sequence":"first","affiliation":[{"name":"Kasturba Medical College, Manipal University, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0679-3323","authenticated-orcid":false,"given":"Mukhyaprana","family":"Prabhu","sequence":"additional","affiliation":[{"name":"Department of Medicine, Kasturba Medical College Manipal, Manipal University, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9714-0904","authenticated-orcid":false,"given":"Gokul","family":"Krishnan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Kasturba Medical College Manipal, Manipal University, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,11,30]]},"reference":[{"key":"2025082803324482000_14.11.e244757.1","unstructured":"Arlt W . 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