Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2
Open Access
- 1 May 2003
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood: Fetal & Neonatal
- Vol. 88 (3) , 250F-252
- https://doi.org/10.1136/fn.88.3.f250
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.Keywords
This publication has 0 references indexed in Scilit: