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 h...

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Bibliographic Details
Published in:	Croatian medical journal Vol. 43; no. 1; pp. 37 - 41
Main Authors:	Barisić, Nina, Kleiner, Irena Martin, Malcić, Ivan, Papa, Jurica, Boranić, Milivoj
Format:	Journal Article
Language:	English
Published:	Croatia 01-02-2002
Subjects:	Child DNA, Mitochondrial - genetics Female Heart Septal Defects, Ventricular - complications Humans MELAS Syndrome - complications Meningocele - complications Point Mutation Spinal Dysraphism - complications
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0353-9504