{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:01:30Z","timestamp":1791097290151,"version":"4.1.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ital J Pediatr"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brain stem and\/or basal ganglia involvement. Raised lactate levels in blood and\/or cerebrospinal fluid is noted. It is the neuroimaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and\/or brain stem that leads to the diagnosis. Here, we report a case of 7 months old female child presenting to us with status epilepticus, delayed developmental milestones and regression of the achieved milestones suspected to be a case of neurodegenerative disorder, which on MRI was diagnosed as Leigh syndrome.<\/jats:p>","DOI":"10.1186\/1824-7288-36-62","type":"journal-article","created":{"date-parts":[[2010,9,15]],"date-time":"2010-09-15T18:15:09Z","timestamp":1284574509000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["A rare mitochondrial disorder: Leigh syndrome - a case report"],"prefix":"10.1186","volume":"36","author":[{"given":"Dhananjay Y","family":"Shrikhande","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piyush","family":"Kalakoti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MM Aarif","family":"Syed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunal","family":"Ahya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gurmeet","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,9,15]]},"reference":[{"key":"110_CR1","first-page":"p2027","volume-title":"Nelson's Text Book of Pediatrics 17thEdition","author":"Behrman E Richard","year":"2004","unstructured":"Richard Behrman, Robert Kliegman, Hal Jenson: Nelson's Text Book of Pediatrics 17thEdition. 2004, Saunders Ltd, Pennsylvania, p2027-"},{"key":"110_CR2","first-page":"14","volume-title":"J Neurol Neurosurg Psychiatry","author":"D Leigh","year":"1951","unstructured":"Leigh D: Sub acute necrotizing encephalomyelopathy in an infant. 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