Alicia Santa Cortés González

Coexistencia de Malformación de Chiari Tipo I, Mielitis Transversa y Deficiencia de Carnitina Palmitoiltransferasa II en una Paciente Pediátrica: Informe de Caso

Introduction: Congenital carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder with phenotypic variability depending on the age of symptom onset. Three clinical forms are described: the perinatal (lethal neonatal), infantile, and adult (myopathic) forms. The objective of this report i...