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Mowat-Wilson syndrome: neurological and molecular study in seven patients.
Paz, José Albino da; Kim, Chong Ae; Goossens, Michael; Giurgea, Irina; Marques-Dias, Maria Joaquina.
Afiliação
  • Paz JA; Unidade de Neurologia e Genética, Instituto da Criança, Hospital das Clínicas, Universidade de São Paulo, Sao Paulo, SP, Brazil.
  • Kim CA; Unidade de Neurologia e Genética, Instituto da Criança, Hospital das Clínicas, Universidade de São Paulo, Sao Paulo, SP, Brazil.
  • Goossens M; Service de Biochimie Génétique, Hôpital Henri Mondor, Créteil, France.
  • Giurgea I; Service de Biochimie Génétique, Hôpital Henri Mondor, Créteil, France.
  • Marques-Dias MJ; Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo, SP, Brazil.
Arq Neuropsiquiatr ; 73(1): 12-7, 2015 Jan.
Article em En | MEDLINE | ID: mdl-25608121
OBJECTIVE: To present a seven-cases serie of Mowat-Wilson syndrome (MWS). METHOD: All patients with positive mutation for the ZEB2 were evaluated by a geneticist and a neurologist, with clinical and laboratorial characterization. RESULTS: A 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). CONCLUSION: Physicians who care for patients with mental retardation and epilepsy should be aware of SMW.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Proteínas de Homeodomínio / Doença de Hirschsprung / Deficiência Intelectual / Microcefalia / Mutação Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Arq Neuropsiquiatr Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Brasil País de publicação: Alemanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Proteínas de Homeodomínio / Doença de Hirschsprung / Deficiência Intelectual / Microcefalia / Mutação Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Arq Neuropsiquiatr Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Brasil País de publicação: Alemanha