MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report

Mitochondrion. 2017 Nov:37:41-45. doi: 10.1016/j.mito.2017.06.006. Epub 2017 Jun 30.

Abstract

Mutations in human MPV17 have been reported in patients with severe mitochondrial DNA (mtDNA) depletion manifesting as early childhood onset failure to thrive, hypoglycemia, encephalopathy and progressive liver failure. We describe an 11 year old girl, born to consanguineous parents, who presented with rapidly progressive weakness of all 4 limbs with symmetrical proximal and distal weakness, gastrointestinal disease and leukoencephalopathy. Genetic analysis of the patient revealed a homozygous pathogenic mutation c.121C>T (p.R41W) in the MPV17 gene. Further, screening for this mutation in the parents revealed the presence of heterozygous mutation in both the parents, suggesting the recessive nature of the disease.

Keywords: MPV17 mutation; Mitochondrial DNA; mtDNA maintenance, hepatocerebral disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Female
  • Gastrointestinal Diseases / etiology
  • Gastrointestinal Diseases / pathology
  • Humans
  • Leukoencephalopathies / etiology
  • Leukoencephalopathies / pathology
  • Membrane Proteins / genetics*
  • Mitochondrial Diseases / diagnostic imaging*
  • Mitochondrial Diseases / pathology*
  • Mitochondrial Proteins / genetics*
  • Mutant Proteins / genetics
  • Point Mutation
  • Quadriplegia / etiology*
  • Quadriplegia / pathology*

Substances

  • MPV17 protein, human
  • Membrane Proteins
  • Mitochondrial Proteins
  • Mutant Proteins

Supplementary concepts

  • Deoxyguanosine Kinase Deficiency