Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

ABSTRACT:

Background

Mitochondrial diseases due to deficiencies in the mitochondrial oxidative phosphorylation system (OXPHOS) can be associated with nuclear genes involved in mitochondrial translation, causing heterogeneous early onset and often fatal phenotypes.

Case report

The authors describe the clinical features and diagnostic workup of an infant who presented with an early onset severe encephalopathy, spastic-dystonic tetraparesis, failure to thrive, seizures and persistent lactic acidemia. Brain imaging revealed thinning of the corpus callosum and diffuse alteration of white matter signal. Genetic investigation confirmed two novel mutations in the GFM1 gene, encoding the mitochondrial translation elongation factor G1 (mtEFG1), resulting in combined deficiencies of OXPHOS.

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SUBMITTER: Brito S 

PROVIDER: S-EPMC4369643 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature