{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T09:58:42Z","timestamp":1777802322338,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2001,8,1]],"date-time":"2001-08-01T00:00:00Z","timestamp":996624000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2001,8]]},"abstract":"<jats:p>\n                    Leigh disease is a subacute neurodegenerative disorder characterized by symmetric necrotic lesions in the basal ganglia, cerebellum, thalamus, brain stem, and optical nerves and caused by altered oxidative phosphorylation. We describe the clinical, biochemical, neuroimaging, and molecular studies of a 19-year-old boy with early-onset Leigh disease manifesting as severe extrapyramidal disorder with generalized dystonia and choreoathetosis. He was born of healthy parents after an uneventful pregnancy and delivery. At the age of 2\u00bd years, after a minor respiratory infection, he developed unstable, broad-based gait and tremor of the hands. These symptoms persisted for the next several years, when ataxia became more prominent. Difficulty in swallowing, dysarthria, trunk dystonia, and marked dyskinesia of the arms and hands gradually developed. Nystagmus, transient ptosis, and strabismus also appeared. Abnormal laboratory findings included elevated plasma and cerebrospinal fluid lactate and pyruvate, with an abnormal lactate\/pyruvate ratio. Cranial computed tomography and magnetic resonance imaging demonstrated signs of cerebellar atrophy, bilateral and symmetric hypodensities in the lentiform nucleus and thalamus, and transient hyperintensities of cerebral peduncles in T\n                    <jats:sub>2<\/jats:sub>\n                    -weighted sequences suggestive of Leigh disease. Muscle biopsy revealed isolated fiber atrophy, necrotic fibers undergoing phagocytosis, and no ragged-red fibers. The measured catalytic activity of cytochrome c oxidase in skeletal muscle homogenates demonstrated a partial cytochrome c oxidase deficiency. No abnormalities in the mitochondrial genome and in the SURF-1 gene were found. The boy is currently receiving levodopa therapy, creatine monohydrate, and a high dosage of thiamine and lipoic acid, his condition is stabilized, and extrapyramidal symptoms are less pronounced. (J Child Neurol 2001; 16:616-619).\n                  <\/jats:p>","DOI":"10.1177\/088307380101600818","type":"journal-article","created":{"date-parts":[[2008,3,31]],"date-time":"2008-03-31T18:40:10Z","timestamp":1206988810000},"page":"616-619","source":"Crossref","is-referenced-by-count":13,"title":["Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal Syndrome"],"prefix":"10.1177","volume":"16","author":[{"given":"Melita","family":"\u010ca\u010di\u0107","sequence":"first","affiliation":[{"name":"Department of Pediatrics Children's Hospital Zagreb"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekkehard","family":"Wilichowski","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Georg-August University G\u00f6ttingen G\u00f6ttingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vlatka","family":"Meja\u0161ki-Bo\u0161njak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Hospital Zagreb"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ksenija","family":"Fumi\u0107","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Clinical Hospital Center Zagreb"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucija","family":"Luji\u0107","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Hospital Zagreb Zagreb University Medical School Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Branka","family":"Marusi\u0107","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Hospital Zagreb Zagreb University Medical School Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Della","family":"Marina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Hospital Zagreb Zagreb University Medical School Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Folker","family":"Hanefeld","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Georg-August University G\u00f6ttingen Gottingen, 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