Epilepsia y síndrome dismórfico asociado a cromosomopatía hereditaria ligada al cromosoma X, tipo micro-duplicación / Epilepsy and dysmorphic syndrome associated with hereditary chromosomopathy linked to X chromosome, micro-duplication type
Acta neurol. colomb
; 32(4): 320-324, oct.-dic. 2016. ilus, tab
Article
em Es
| LILACS
| ID: biblio-949596
Biblioteca responsável:
CO362.9
RESUMEN
Resumen Los hallazgos de síndromes dismórficos asociados a cromosomopatía ligada a X y epilepsia son de presentación infrecuente. Presentamos un caso de alteración genética en un paciente masculino, con microduplicación ligada al cromosoma X MECP2 y antecedente familiar de hermano con fenotipo similar, que comparten línea sanguínea materna, de diferentes padres. El síndrome dismórfico ligado a cromosoma X MECP2 (methyl-CpG-binding protein2), causan grave retraso mental, encefalopatía epiléptica e infecciones recurrentes del aparato respiratorio y consecuentemente pueden además tener una epilepsia resistente al manejo farmacológico.
ABSTRACT
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
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Encefalopatias
/
Transtornos Dismórficos Corporais
/
Genética
/
Infecções
Tipo de estudo:
Risk_factors_studies
Idioma:
Es
Ano de publicação:
2016
Tipo de documento:
Article