Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at mitochondrial DNA nucleotide 3271.
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.
Barisić
Nina
N
Department of Pediatrics, Zagreb University Hospital Center, Kispaticeva 12, 10000 Zagreb, Croatia. nina.barisic@zg.hinet.hr
Kleiner
Irena Martin
IM
Malcić
Ivan
I
Papa
Jurica
J
Boranić
Milivoj
M
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*
D004272:DNA, Mitochondrial