Wolf–Hirschhorn (4p-) syndrome with West syndrome

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Wolf–Hirschhorn (4p-) syndrome with West syndrome

Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalo...

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Prenatal recognition of 4p- syndrome.

A fetus with the rare 4p- syndrome was detected by chromosome analysis of amniotic cell culture, and the pregnancy terminated. The fetus showed a number of the physical stigmata of the syndrome.

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[Case of combination of Beckwith-Wiedemann syndrome with West syndrome].

Beckwith-Wiedemann syndrome (BWS) is etiologically connected with genetic/epigenetic growth dysregulation. The supposed localization of this disorder is a short arm of chromosome 11 (11p 15.5). Its prevalence is 1:13 per 700 newborns. West syndrome is an age-dependent epileptic syndrome related to a group of infantile epileptic encephalopathies and characterized by a triad of basic symptoms: se...

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Outcome in West syndrome.

OBJECTIVES To assess the seizure and developmental outcome in children with West syndrome with respect to treatment lag. METHODS Twenty-six children satisfying inclusion criteria of West syndrome i.e., infantile spasms, psychomotor retardation and abnormal EEG pattern were prospectively evaluated. Response to treatment was assessed based on seizure control, EEG, developmental assessment and p...

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ژورنال

عنوان ژورنال: Epilepsy & Behavior Case Reports

سال: 2016

ISSN: 2213-3232

DOI: 10.1016/j.ebcr.2016.07.001