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Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.

Abstract
Cerebellar and brainstem hypoplasia may occur in different conditions, including those disorders designated as pontocerebellar hypoplasia (PCH). In particular, when PCH is combined with severe supratentorial white matter involvement and cerebral atrophy, mutations in the mitochondrial arginyl-tRNA synthethase (RARS2) gene causing PCH6 are possible. We describe a patient with a lethal mitochondrial encephalomyopathy due to a mtDNA deletion and no alterations in RARS2, whose magnetic resonance (MR) findings mimicked PCH6. A thorough diagnostic work-up for mitochondrial disorders should be carried out when facing with a PCH-like and severe white matter and basal ganglia involvement on brain MR imaging in children, even if clinical and laboratory mitochondrial "stigmata" are scant or nonspecific.
AuthorsRoberta Biancheri, Claudio Bruno, Denise Cassandrini, Enrico Bertini, Filippo M Santorelli, Andrea Rossi
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 34 Issue 6 Pg. 1225-7 (Dec 2011) ISSN: 1573-2665 [Electronic] United States
PMID21826524 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA, Mitochondrial
Topics
  • Basal Ganglia (abnormalities)
  • Brain (pathology)
  • Brain Stem (abnormalities)
  • Child, Preschool
  • DNA, Mitochondrial (genetics)
  • Diagnosis, Differential
  • Gene Deletion
  • Humans
  • Leukoencephalopathies (diagnosis, genetics, metabolism)
  • Magnetic Resonance Imaging
  • Mitochondrial Encephalomyopathies (genetics, pathology)
  • Olivopontocerebellar Atrophies (diagnosis, genetics, pathology)

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