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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
Author(s) -
Biancheri Roberta,
Bruno Claudio,
Cassandrini Denise,
Bertini Enrico,
Santorelli Filippo M.,
Rossi Andrea
Publication year - 2011
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9376-7
Subject(s) - hypoplasia , brainstem , basal ganglia , white matter , atrophy , cerebellar hypoplasia (non human) , pathology , cerebellum , leukoencephalopathy , mitochondrial dna , mitochondrial encephalomyopathy , biology , magnetic resonance imaging , olivopontocerebellar atrophy , central nervous system disease , anatomy , medicine , neuroscience , degenerative disease , central nervous system , genetics , gene , disease , radiology
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.