{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T15:40:01Z","timestamp":1745768401917,"version":"3.40.4"},"reference-count":9,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Lactate is the endogenous end product of the anaerobic glycolysis, whose production is favoured in situations of hypoperfusion or mitochondrial dysfunction. Leigh syndrome is a rare, progressive encephalomyopathy that represents a spectrum of mitochondrial genetic diseases phenotypically distinct, but with neuroradiological and pathological uniform presentation. We present the case of a 7-month-old infant, with a history of prematurity, psychomotor retardation and epilepsy, admitted to the paediatric intensive care unit (PICU) due to cardio-respiratory arrest because of respiratory infection. Hyperlactacidaemia was detected and was persistent. The study of redox potential was normal but MRI with spectroscopy identified bilateral and symmetrical lesions involving thalamic and basal ganglia, with small lactate peaks at T2 flair, findings that were suggestive of Leigh syndrome. Subsequent enzymatic study identified lack of pyruvate dehydrogenase. Persistent hyperlactacidaemia, in the appropriate clinical context, should lead to the screening of mitochondrial diseases.<\/jats:p>","DOI":"10.1136\/bcr-2013-009485","type":"journal-article","created":{"date-parts":[[2013,5,23]],"date-time":"2013-05-23T12:55:26Z","timestamp":1369313726000},"page":"bcr2013009485","source":"Crossref","is-referenced-by-count":0,"title":["Persistent hyperlactacidaemia: about a clinical case"],"prefix":"10.1136","volume":"2013","author":[{"given":"Ana Rita Saraiva","family":"Oliveira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalina","family":"Valente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lurdes","family":"Ventura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,5,22]]},"reference":[{"key":"2025042708005830000_2013.may22_1.bcr2013009485.1","doi-asserted-by":"crossref","first-page":"S43","DOI":"10.1097\/PCC.0b013e3182211aed","article-title":"Lactate and acid base as a hemodynamic monitor and markers of cellular perfusion","volume":"2013","author":"Allen","year":"2011","journal-title":"Pediatric Crit Care Med"},{"key":"2025042708005830000_2013.may22_1.bcr2013009485.2","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.pediatrneurol.2008.07.013","article-title":"Leigh and Leigh-like syndrome in children and adults","volume":"2013","author":"Finsterer","year":"2008","journal-title":"Pediatr Neurol"},{"key":"2025042708005830000_2013.may22_1.bcr2013009485.3","first-page":"60","article-title":"Leigh syndrome in an infant resulting from mitochondrial DNA repletion","volume":"2013","author":"Absalon","year":"2011","journal-title":"Pediatr Neurol"},{"unstructured":"Naviaux RK . The spectrum of mitochondrial disease. A primary care physician's guide . Vol. 3, 2010:3\u201310.","key":"2025042708005830000_2013.may22_1.bcr2013009485.4"},{"key":"2025042708005830000_2013.may22_1.bcr2013009485.5","first-page":"e6","article-title":"Leigh syndrome: MRI findings in two children","volume":"2013","author":"KartiKasalwah","year":"2010","journal-title":"Biomed Imaging Interv J"},{"key":"2025042708005830000_2013.may22_1.bcr2013009485.6","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/ddrr.103","article-title":"The use of neuroimaging in the diagnosis of mitochondrial disease","volume":"2013","author":"Friedman","year":"2010","journal-title":"Dev Disabil Res Rev"},{"key":"2025042708005830000_2013.may22_1.bcr2013009485.7","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1136\/jnnp.66.1.5","article-title":"Respiratory aspects of neurological disease","volume":"2013","author":"Polkey","year":"1999","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025042708005830000_2013.may22_1.bcr2013009485.8","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.diabet.2009.11.002","article-title":"Genetic bases of mitochondrial respiratory chain diseases","volume":"2013","author":"Rotig","year":"2010","journal-title":"Diabetes Metab"},{"key":"2025042708005830000_2013.may22_1.bcr2013009485.9","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.siny.2011.04.003","article-title":"Infantile mitocondrial encephalopathy","volume":"2013","author":"Uziel","year":"2011","journal-title":"Semin Fetal Neonatal Med"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-009485","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T15:01:06Z","timestamp":1745766066000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-009485"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,22]]},"references-count":9,"alternative-id":["10.1136\/bcr-2013-009485"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-009485","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2013,5,22]]}}}