Resumo

RODRIGUEZ, Wolfang Rubio et al. Epilepsy and dysmorphic syndrome associated with hereditary chromosomopathy linked to X chromosome, micro-duplication type. Acta Neurol Colomb. [online]. 2016, vol.32, n.4, pp.320-324. ISSN 0120-8748.  https://doi.org/10.22379/24224022115.

Summary The findings of dysmorphic syndromes associated with X-linked chromosomopathy and epilepsy are infrequent. It is a case of genetic alteration in a male patient, with X-linked microduplication MECP2 and familiar history of a sibling with similar phenotype, which compares the maternal blood line of different parents. X-linked dysmorphic syndrome MECP2 (methyl-CpG2 binding protein), causing severe mental retardation, epileptic encephalopathy and recurrent infections of the respiratory tract and consecutively also have epilepsy resistant to pharmacological management.

Palavras-chave : dysmorphic; encephalopathy; epilepsy; genetic; infection; intractable.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )