与半侧巨脑畸形和大田原综合征相关的变形综合征：两例报告。

Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases.

作者信息

Bastos Halisson, da Silva Paula Fabiana Sobral, de Albuquerque Marco Antônio Veloso, Mattos Adriana, Riesgo Rudimar Santos, Ohlweiler Lygia, Winckler Maria Isabel Bragatti, Bragatti José Augusto, Duarte Rodrigo Dias, Zandoná Denise Isabel

机构信息

Child Neurology, Hospital de Clínicas de Porto Alegre (HCPA), Universidade Federal do Rio Grande do Sul (UFRGS), Rua Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, Brazil.

出版信息

Seizure. 2008 Jun;17(4):378-82. doi: 10.1016/j.seizure.2007.11.001. Epub 2007 Dec 21.

DOI:10.1016/j.seizure.2007.11.001

PMID:18082431

Abstract

The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and mental retardation. In both patients, a refractory epilepsy, compatible with Ohtahara syndrome, as well as hemimegalencephaly, with asymmetric distribution of facial fat, were also diagnosed.

摘要

作者报告了两例患有变形综合征大多数常见综合征特征的巴西儿童病例，这些特征包括组织不对称过度生长、皮肤异常、肌张力减退和智力迟钝。在这两名患者中，还诊断出了与大田原综合征相符的难治性癫痫以及半侧巨脑症，面部脂肪分布不对称。