José Albino da Paz1, Chong Ae Kim1, Michael Goossens2, Irina Giurgea2, Maria Joaquina Marques-Dias3. 1. Unidade de Neurologia e Genética, Instituto da Criança, Hospital das Clínicas, Universidade de São Paulo, Sao Paulo, SP, Brazil. 2. Service de Biochimie Génétique, Hôpital Henri Mondor, Créteil, France. 3. Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo, SP, Brazil.
Abstract
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.
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.
Authors: Elena Díaz-Casado; Ricardo Gómez-Nieto; José M de Pereda; Luis J Muñoz; María Jara-Acevedo; Dolores E López Journal: PLoS One Date: 2020-03-13 Impact factor: 3.240