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

Lookup NU author(s): Dr Vankateswara Ramesh, Professor Sunil Sinha

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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 metadata

Author(s): Lynch SA, Whatley SD, Ramesh V, Sinha S, Ravine D

Publication type: Article

Publication status: Published

Journal: Archives of Disease in Childhood: Fetal and Neonatal Edition

Year: 2003

Volume: 88

Issue: 3

Pages: F250-F252

Print publication date: 01/05/2003

ISSN (print): 1359-2998

ISSN (electronic): 1468-2052

Publisher: BMJ Group

URL: http://dx.doi.org/10.1136/fn.88.3.F250

DOI: 10.1136/fn.88.3.F250

PubMed id: 12719401

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