A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern

Maria P Guerra; Richard A Hrachovy; Licia Lugli; Eli M Mizrahi; Fabrizio Ferrari

doi:10.1016/j.ejpn.2007.02.004

A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern

Eur J Paediatr Neurol. 2007 Sep;11(5):318-21. doi: 10.1016/j.ejpn.2007.02.004. Epub 2007 Apr 6.

Authors

Maria P Guerra¹, Richard A Hrachovy, Licia Lugli, Eli M Mizrahi, Fabrizio Ferrari

Affiliation

¹ Department of Obstetric and Gynaecology, Section of Neonatology and Intensive Care Unit, University Hospital of Modena, Via del Pozzo 71, 41100 Modena, Italy. guerramp@yahoo.it

PMID: 17412623
DOI: 10.1016/j.ejpn.2007.02.004

Abstract

Pachygyria, joint contractures and facial abnormalities have been reported in the literature very rarely. These features constitute a new lethal syndrome. We describe a male infant who represents an additional case of the same lethal syndrome first described in 1989. The patient also presented an early-onset epileptic encephalopathy with a suppression-burst EEG pattern.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / pathology
Abnormalities, Multiple / physiopathology*
Brain / abnormalities
Brain / physiopathology*
Contracture / congenital*
Electroencephalography
Epilepsy / physiopathology*
Face / abnormalities*
Fatal Outcome
Female
Hepatitis C
Humans
Infant, Newborn
Joints / abnormalities*
Male
Pregnancy
Pregnancy Complications, Infectious
Prenatal Exposure Delayed Effects
Substance-Related Disorders