Article Text
Case report
Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2
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