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Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations
  1. Katherina Kastrissianakis1,
  2. Geetha Anand1,
  3. Gerardine Quaghebeur2,
  4. Sue Price3,
  5. Prab Prabhakar4,
  6. Jasmina Marinova5,
  7. Garry Brown6,
  8. Tony McShane1
  1. 1Department of Paediatric Neurology, Oxford University Hospitals, Oxford, UK
  2. 2Department of Neuroradiology, Oxford University Hospitals, Oxford, UK
  3. 3Department of Clinical Genetics, Northampton General Hospital, Northampton, UK
  4. 4Department of Paediatric Neurology, Great Ormond Street Hospital, London, UK
  5. 5Paediatric Department, Kettering General Hospital, Kettering, UK
  6. 6Department of Biochemistry, University of Oxford, Oxford, UK
  1. Correspondence to Dr Katherina Kastrissianakis, Paediatric Neurology, Oxford University Hospitals, Headley Way, Oxford OX3 9DU, UK; K.Kastrissianakis{at}gmail.com

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.

  • Subdural Effusion
  • RARS2
  • Pontocerebellar Hypoplasia Type 6
  • Epilepsy
  • Microcephaly

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