P390 Neonatal mitochondrial encephalocardiomyopathy – case report

• Published in: Archives of disease in childhood Vol. 102; no. Suppl 2; p. A183
• Main Authors: Claudia, Jurca, Bogdan, Dima, Marius, Bembea, Eniko, Bereki, Ariana, Szilagyi, Andreea, Balmos, Alexandru, Jurca
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group LTD 01-06-2017
• Subjects: Acidosis; Aciduria; ATP synthase; Birth weight; Body Weight; Cardiomyopathy; Developmental Delays; Encephalopathy; Ethnicity; Evolution; Genetic screening; Hyperammonemia; Hypertension; Lactic acidosis; Low birth weight; Membrane proteins; Mitochondria; Mutation; Neonates; Newborn babies; Pediatrics; Romani people
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/archdischild-2017-313273.478

BackgroundNeonatal mitochondrial encephalocardiomyopathy (OMIM, 614052) is due to a mutation of transmembrane protein 70 gene (TMEM70). TMEM70 encodes a mitochondrial membrane protein that plays a role in the biogenesis of mitochondrial ATP synthase.Materials and methodsThe authors report a boy aged 1 year and 9 months who presented immediately after birth with signs of encephalopathy associated with lactic acidosis, severe hypotonia, hyperammonemia, and 3-methylglutaconic aciduria. The infant was also found to have hypertrophic cardiomyopathy, atrial septal defect, pulmonary hypertension, hypospadias, moderate psychomotor developmental delay. It is the fifth child in the family, born prematurely, low birth weight (1900 g); consanguineous family of Roma (Gypsy) ethnic origin.ResultsGenetic testing revealed a homozygous mutation (c.317-2A>G) in the TMEM70 gene. This mutation is prevalent, particularly in the Roma population. The inheritance is autosomal recessive. The prevalence of the syndrome is unknown.ConclusionTo date fewer than 100 cases have been reported in the literature (Orphanet). This is the only case reported in Romania.