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.
A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern / Guerra, Mp; Hrachovy, Ra; Lugli, L; Mizrahi, Em; Ferrari, Fabrizio. - In: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. - ISSN 1090-3798. - STAMPA. - 11:5(2007), pp. 318-321. [10.1016/j.ejpn.2007.02.004]