Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
Arch Dis Child
; 98(12): 1004-7, 2013 Dec.
Article
em En
| MEDLINE
| ID: mdl-24047924
ABSTRACT
Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder characterised by early onset seizures, progressive microcephaly and developmental delay. The disorder was named pontocerebellar hypoplasia type 6 (PCH6) based on the corresponding radiological findings observed in the original cases. We report two siblings with the RARS2 mutation who displayed typical clinical features of PCH6, but who had distinct neuroimaging features. Early scans showed marked supratentorial, rather than infratentorial, atrophy, and the pons remained preserved throughout. One sibling also had bilateral subdural effusions at presentation. The deceleration in head growth pointed to an evolving genetic/metabolic process giving rise to cerebral atrophy and secondary subdural effusions. RARS2 mutations should be considered in infants presenting with seizures, subdural effusions, decelerating head growth and evidence of cerebral atrophy even in the absence of pontocerebellar hypoplasia on imaging.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Arginina-tRNA Ligase
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Derrame Subdural
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Atrofias Olivopontocerebelares
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Ponte
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Cerebelo
Tipo de estudo:
Diagnostic_studies
Limite:
Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Arch Dis Child
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Reino Unido