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

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 w...

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Bibliographic Details
Published in:Mitochondrion 2017-11, Vol.37, p.41-45
Main Authors: Pyal, Anjan, Paramasivam, Arumugam, Meena, Angamuthu Kannan, Bhavana, Velpula Bhagya, Thangaraj, Kumarasamy
Format: Article
Language:English
Subjects:
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
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Summary: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.
ISSN:1567-7249
1872-8278
DOI:10.1016/j.mito.2017.06.006