Abstract

  Mitochondrial myopathies are a group of neuromuscular diseases caused by an altered function of the mitochondrial oxidative phosphorylation with an onset starting before the age of 20. Herein, we report a case of a 6 months old girl with a remarkable neonatal history of microcephaly and seizures refractory to antiepileptic drugs who presented to our clinic for abnormal right-side tonic and clonic movements with focal mouth twitching and global neurologic delay. An electroencephalogram showed left sharp waves and generalized spikes; brain. Magnetic resonance imaging (MRI) was significant for lissencephaly and incomplete left temporal lobe. Whole exome sequencing showed a homozygous pathogenic variant in the PNPLA8 gene and this finding was consistent with the genetic diagnosis of an autosomal recessive mitochondrial myopathy with lactic acidosis.

Keywords: Mitochondrial Myopathies; Magnetic Resonance Imaging (MRI); PNPLA 8 Mutation

References

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Citation

Citation: Chadi Al Alam., et al. “PNPLA 8 Mutation in Mitochondrial Disease: Second Case Worldwide". Acta Scientific Clinical Case Reports 1.10 (2020): 19-21.

Copyright

Copyright: © 2020 Chadi Al Alam., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.