Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.

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.

Transient synovitis of the hip: more evidence for a viral aetiology.

Objectives: Transient synovitis (TS) of the hip is a common cause of limping in children. A link with infection has been suggested but has not been firmly established. We conducted a case-control study to determine whether the TS is associated with infection.