Mowat-Wilson syndrome: neurological and molecular study in seven patients

Arquivos de Neuro-Psiquiatria

José Albino Da Paz¹  Chong Ae Kim¹  Michael Goossens¹  Irina Giurgea¹  Maria Joaquina Marques-dias¹ 

关键词: Mowat-Wilson syndrome;    epilepsy;    corpus callosum agenesis;    microcephaly;    mental retardation;    síndrome de Mowat-Wilson;    epilepsia;    agenesia do corpo caloso;    microcefalia;    retardo mental;   

DOI  :  10.1590/0004-282X20140182

来源: SciELO

【 摘 要 】

ObjectiveTo present a seven-cases serie of Mowat-Wilson syndrome (MWS).MethodAll patients with positive mutation for the ZEB2 were evaluated by a geneticist and a neurologist, with clinical and laboratorial characterization.ResultsA peculiar facies and mental retardation were present in all patients. The Denver II scale showed intense delay in all aspects, especially fine motor and adaptive. Acquired microcephaly was observed in five patients. Only one patient did not present epilepsy. Epilepsy was focal and predominating in sleep, with status epilepticus in three patients. The initial seizure was associated with fever in most patients (4/6). The EEG showed epileptic focal activity (5/7). The imaging studies revealed total agenesis (4/7) and partial agenesis of the corpus callosum (1/7).ConclusionPhysicians who care for patients with mental retardation and epilepsy should be aware of SMW.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License