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. 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.

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. METHODS: We enrolled children diagnosed with TS in our emergency department over a 10-week period. For each case, we identified an age-matched and sex-matched child with a fracture. Parents of cases and controls were questioned with regard to recent infectious illness in their child according to a predefined questionnaire. RESULTS: A paired analysis showed that children with TS (N=29) were more likely to have experienced recent infection with vomiting or diarrhoea (P=0.004) and 'common cold symptoms/runny nose' (P=0.006) than the children with fractures (N=29). Other symptoms suggestive of either viral or bacterial infection were not significantly associated with TS. CONCLUSION: TS is associated with symptoms of gastroenteritis and the common cold.