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Case report
Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2
  1. S A Lynch1,
  2. S D Whatley2,
  3. V Ramesh3,
  4. S Sinha4,
  5. D Ravine2,5
  1. 1Institute of Human Genetics, International Centre for Life, Newcastle, UK
  2. 2Department of Medical Biochemistry and Immunology, University Hospital of Wales, Heath Park, Cardiff, UK
  3. 3Paediatric Neurology, Newcastle General Hospital
  4. 4Directorate of Neonatology, South Cleveland Hospital, Middlesbrough, UK
  5. 5Institute of Medical Genetics, University Hospital of Wales
  1. Correspondence to:
    Dr Lynch, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle NE1 3BZ, UK;
    s.a.lynch{at}ncl.ac.uk

Abstract

The case of a male infant with neonatal encephalopathy and a de novo MECP2 mutation is reported. The presenting phenotype of decelerating head growth, spasticity, scoliosis, and central respiratory disturbance raised suspicions of the diagnosis. Neonatal encephalopathy in males is part of a spectrum of disorders caused by MECP2 dysfunction.

  • de novo mutation
  • Rett syndrome
  • X chromosome inactivation
  • recurrence risk

https://doi.org/10.1136/fn.88.3.F250

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