{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T13:40:19Z","timestamp":1765546819339,"version":"3.40.5"},"reference-count":53,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,29]],"date-time":"2021-09-29T00:00:00Z","timestamp":1632873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To report an adolescent with infantile\u2010onset carnitine palmitoyltransferase 2 (CPT2) deficiency and cerebral malformations and to review the occurrence of brain malformations in CPT2 deficiency. The patient presented clinically at age 5\u00a0months with dehydration and hepatomegaly. He also has an unrelated condition, X\u2010linked nephrogenic diabetes insipidus. He had recurrent rhabdomyolysis but normal psychomotor development. At age 17\u2009years, he developed spontaneous focal seizures. Cerebral magnetic resonance imaging revealed extensive left temporo\u2010parieto\u2010occipital polymicrogyria, white matter heterotopias, and schizencephaly. Neuronal migration defects were previously reported in lethal neonatal CPT2 deficiency but not in later\u2010onset forms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design and Methods<\/jats:title><jats:p>We searched PubMed, Google Scholar, and the bibliographies of the articles found by these searches, for cerebral malformations in CPT2 deficiency. All antenatal, neonatal, infantile, and adult\u2010onset cases were included. Exclusion criteria included insufficient information about age of clinical onset and lack of confirmation of CPT2 deficiency by enzymatic assay or genetic testing. For each report, we noted the presence of cerebral malformations on brain imaging or pathological examination.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of 26 neonatal\u2010onset CPT2\u2010deficient patients who met the inclusion criteria, brain malformations were reported in 16 (61.5%). In 19 infantile\u2010onset cases, brain malformations were not reported, but only 3 of the 19 reports (15.8%) include brain imaging or neuropathology data. In 276 adult\u2010onset cases, no brain malformations were reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To the best of our knowledge, this is the first report of cerebral malformations in an infantile onset CPT2\u2010deficient patient. Brain imaging should be considered in patients with CPTII deficiency and neurological manifestations, even in those with later clinical onset.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12243","type":"journal-article","created":{"date-parts":[[2021,9,29]],"date-time":"2021-09-29T21:10:30Z","timestamp":1632949830000},"page":"3-10","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7793-7860","authenticated-orcid":false,"given":"Ivan","family":"Shelihan","sequence":"first","affiliation":[{"name":"Divisions of Medical Genetics (IS, CBG, GM) and Neurology (ER), Department of Pediatrics CHU Sainte\u2010Justine and Universit\u00e9 de Montr\u00e9al Montreal Quebec 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