{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:06:54Z","timestamp":1777867614112,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,1,23]],"date-time":"2008-01-23T00:00:00Z","timestamp":1201046400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,1,23]],"date-time":"2008-01-23T00:00:00Z","timestamp":1201046400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Neurol"],"abstract":"<jats:p>A boy was first noted to have partial optic atrophy, strabismus, cerebellar ataxia and delayed behavioural development after the age of 4 years. Subsequently he developed kyphosis and mild pes cavus; spasticity first became apparent in the legs, and a diagnosis of Behr\u2019s syndrome was entertained. However, the disease progressed in a series of relapses with subsequent partial recovery. At 12\u00bd years he was shown to have bilateral depression of labyrinthine function attributable to a lesion of central vestibular pathways. He had high-normal levels of blood lactate and plasma alanine and somewhat high urinary alanine output. A diagnosis of necrotizing encephalomyelopathy was made and was confirmed when the urine was shown to inhibit thiamine pyrophosphate-adenosine triphosphate phosphotransferase. During a further relapse with increased weakness impaired conduction in limb nerves was demonstrated. After slight improvement the boy\u2019s condition deteriorated and he required respirator care and tracheostomy. Intravenous infusion of thiamine hydrochloride and thiamine propyl disulphide (15 mg\/kg daily) failed to arrest the downward course. He died at 12 years 10\u00bd months. Autopsy showed the characteristic changes of Leigh\u2019s disease (SNE) which involved not only diencephalon and brain stem but also the optic nerves and chiasm, cerebellum, and cervical and thoracic portions of the spinal cord. The importance of considering necrotizing encephalomyelopathy in the differential diagnosis of hereditary ataxias in childhood is emphasized.<\/jats:p>","DOI":"10.1159\/000114411","type":"journal-article","created":{"date-parts":[[2008,1,28]],"date-time":"2008-01-28T02:48:52Z","timestamp":1201488532000},"page":"34-55","source":"Crossref","is-referenced-by-count":11,"title":["Necrotizing Encephalomyelopathy"],"prefix":"10.1159","author":[{"given":"H.G.","family":"Dunn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.L.","family":"Dolman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,1,23]]},"container-title":["European Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/114411","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000114411","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T10:33:05Z","timestamp":1777545185000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000114411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,23]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000114411","archive":["Portico"],"relation":{},"ISSN":["0014-3022","1421-9913"],"issn-type":[{"value":"0014-3022","type":"print"},{"value":"1421-9913","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,23]]}}}