RT Journal Article SR Electronic T1 Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations JF Archives of Disease in Childhood JO Arch Dis Child FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health SP 1004 OP 1007 DO 10.1136/archdischild-2013-304308 VO 98 IS 12 A1 Kastrissianakis, Katherina A1 Anand, Geetha A1 Quaghebeur, Gerardine A1 Price, Sue A1 Prabhakar, Prab A1 Marinova, Jasmina A1 Brown, Garry A1 McShane, Tony YR 2013 UL http://adc.bmj.com/content/98/12/1004.abstract AB 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.