Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2

Arch Dis Child Fetal Neonatal Ed. 2003 May;88(3):F250-2. doi: 10.1136/fn.88.3.f250.


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.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases / genetics*
  • Chromosomal Proteins, Non-Histone*
  • DNA-Binding Proteins / genetics*
  • Electrocardiography
  • Fatal Outcome
  • Humans
  • Infant, Newborn
  • Male
  • Methyl-CpG-Binding Protein 2
  • Mutation, Missense / genetics*
  • Repressor Proteins*


  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2
  • Repressor Proteins