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

S A Lynch; S D Whatley; V Ramesh; S Sinha; D Ravine

doi:10.1136/fn.88.3.f250

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.

Authors

S A Lynch¹, S D Whatley, V Ramesh, S Sinha, D Ravine

Affiliation

¹ Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle NE1 3BZ, UK. s.a.lynch@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.

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*

Substances

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