title: Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at mitochondrial DNA nucleotide 3271.
abstract: We describe a case of mitochondrial encephalopathy, lactacidosis, and stroke-like episode (MELAS syndrome) associated with ventricular septal defect and meningocele at the L3 level in a 5-year-old girl. Mitochondrial DNA analysis showed point mutation at nucleotide 3271--> TC. The occurrence of heart and neural tube defects in association with usual features of the MELAS syndrome might be explained by either defective high-energy metabolism during early embryogenesis or a common genetic cause.
authors.affiliation: Department of Pediatrics, Zagreb University Hospital Center, Kispaticeva 12, 10000 Zagreb, Croatia. nina.barisic@zg.hinet.hr
authors.forename: Nina
authors.initials: N
authors.lastname: Barisić
authors.forename: Irena Martin
authors.initials: IM
authors.lastname: Kleiner
authors.forename: Ivan
authors.initials: I
authors.lastname: Malcić
authors.forename: Jurica
authors.initials: J
authors.lastname: Papa
authors.forename: Milivoj
authors.initials: M
authors.lastname: Boranić
mesh_terms: D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000150:complications*; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications*; D008588:Meningocele / Q000150:complications; D017354:Point Mutation; D016135:Spinal Dysraphism / Q000150:complications*
chemical_list: D004272:DNA, Mitochondrial