Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development

OBJECTIVE: To report an adolescent with infantile‐onset 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 months with dehydration and hepatomegaly. He also ha...

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Detalles Bibliográficos
Autores principales: Shelihan, Ivan, Rossignol, Elsa, Décarie, Jean‐Claude, Bonnefont, Jean‐Paul, Brivet, Michèle, Brunel‐Guitton, Catherine, Mitchell, Grant A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8743346/
https://www.ncbi.nlm.nih.gov/pubmed/35028265
http://dx.doi.org/10.1002/jmd2.12243

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