engleski

Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at nucleotide 3271 of the mitochondrial DNA.

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 T C. The occurrence of heart and neural tube defects in association with usual features of the MELAS syndrome might be explained by defective high energy metabolism during early embryogenesis or attributed to a common genetic cause.

DNA; mitochondrial; heart septal defects; ventricular; MELAS syndrome; meningocele; spinal dysraphism; point mutation

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