{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T20:21:03Z","timestamp":1791145263909,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,12,5]],"date-time":"2011-12-05T00:00:00Z","timestamp":1323043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:p>Pyruvate dehydrogenase complex (PDHC) deficiency causes encephalomyopathies, of which there are four major categories: (1) neonatal encephalopathy with lactic acidosis; (2) an early infantile form, which (3) at times resembles Leigh syndrome; and (4) a later\u2010onset form. Long\u2010term clinical and radiological follow\u2010up is still incompletely elucidated. We report a 12\u2010year\u2010old male with intermittent\u2010relapsing PDHC deficiency who presented with three typical acute episodes of metabolic decompensation over 7\u2003years. Neuroimaging showed reversible signal abnormalities in the basal ganglia, inferior olivary nuclei, periaqueductal grey matter, and dentate nuclei, with evidence of lactate on magnetic resonance spectroscopy. Molecular analysis of <jats:italic>PDH1A<\/jats:italic> revealed a novel hemizygous c.1045G&gt;A mutation, predicting a p.A349T missense mutation. He was treated with thiamine supplementation and, while on this regimen, he experienced several intercurrent febrile episodes without neurological compromise. This case report stresses the importance of performing neuroimaging during acute clinical episodes because brain lesions in PDHC deficiency may be transient and reversible, and false\u2010negative results may mislead the diagnosis and delay the treatment.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2011.04151.x","type":"journal-article","created":{"date-parts":[[2011,12,5]],"date-time":"2011-12-05T17:42:51Z","timestamp":1323106971000},"page":"472-476","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Intermittent\u2010relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility"],"prefix":"10.1111","volume":"54","author":[{"given":"GAIA","family":"GIRIBALDI","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LAURA","family":"DORIA\u2010LAMBA","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ROBERTA","family":"BIANCHERI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MARIASAVINA","family":"SEVERINO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ANDREA","family":"ROSSI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FILIPPO M","family":"SANTORELLI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CRISTINA","family":"SCHIAFFINO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"UBALDO","family":"CARUSO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FIORELLA","family":"PIEMONTE","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CLAUDIO","family":"BRUNO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,12,5]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2009.03541.x"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005305614374"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2008.09.020"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)90107-4"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0730-725X(99)00002-8"},{"key":"e_1_2_6_7_2","first-page":"119","article-title":"Mitochondrial disorders: analysis of their clinical and imaging characteristics","volume":"145","author":"Barkovich AJ","year":"1993","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/3-540-27660-2_40"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-003-0955-7"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000133303.07003.8E"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(97)00074-0"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2000.0278"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050903"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1077084"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-8749.2011.04151.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-8749.2011.04151.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T22:45:55Z","timestamp":1698792355000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-8749.2011.04151.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12,5]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1111\/j.1469-8749.2011.04151.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-8749.2011.04151.x","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12,5]]},"assertion":[{"value":"2011-12-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}