Mowat-Wilson syndrome: neurological and molecular study in seven patients / Síndrome de Mowat-Wilson: estudo neurológico e molecular em sete pacientes
Arq. neuropsiquiatr
;
73(1): 12-17, 01/2015. tab, graf
Article
Dans Anglais
| LILACS
| ID: lil-732211
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. .
RESUMO
Objetivo Apresentar uma série de sete casos da síndrome de Mowat-Wilson (SMW). Método Todos os pacientes com estudo positivo para a mutação ZEB2 foram avaliados por um geneticista e um neurologista, com a caracterização clínica e laboratorial. Resultados Todos apresentavam fácies peculiar e retardo mental. A escala de Denver II evidenciou intenso atraso em todos os aspectos, sobretudo motor fino e adaptativo. Microcefalia adquirida foi observada em cinco pacientes. Apenas um paciente não apresentava epilepsia, sendo esta focal e predominando no sono, sendo relatado estado de mal em três pacientes. A crise inicial estava associada à febre na maioria dos pacientes (4/6). O EEG evidenciou atividade epiléptica focal na maioria (5/7). Ao estudo de imagem foi observada agenesia total (4/7) e parcial do corpo caloso (1/7). Conclusão Médicos que lidam com pacientes com retardo mental e epilepsia devem saber distinguir as características peculiares da SMW. .
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Protéines de répression
/
Protéines à homéodomaine
/
Maladie de Hirschsprung
/
Déficience intellectuelle
/
Microcéphalie
/
Mutation
Type d'étude:
Étude observationnelle
/
Facteurs de risque
Limites du sujet:
Enfant
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Bébé
/
Mâle
langue:
Anglais
Texte intégral:
Arq. neuropsiquiatr
Thème du journal:
Neurologie
/
Psychiatrie
Année:
2015
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Universidade de São Paulo/BR
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