Assuntos
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/genética , Proteínas Associadas aos Microtúbulos/genética , Mosaicismo , Neuropeptídeos/genética , Encéfalo/patologia , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/tratamento farmacológico , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/patologia , Análise Mutacional de DNA , Proteínas do Domínio Duplacortina , Proteína Duplacortina , Pai , Feminino , Humanos , Padrões de Herança , Imageamento por Ressonância Magnética , Mutação Puntual , Adulto JovemRESUMO
This report describes a male case of subcortical band heterotopia (SBH) with somatic mosaicism of doublecortin (DCX) mutation. His brain MRI revealed bilateral SBH with anterior dominant pachygyria. Although he had infantile spasms from 5-months old and showed mild developmental delay, he responded well to vitamin B6 and ACTH therapy. We conducted DCX mutation analysis using peripheral blood lymphocytes of the proband and his parents. Only the present case showed the mixture pattern of missense mutation (c. 167 G>C) and normal sequence of DCX gene indicating that the present case resulted from somatic mosaicism of de novo DCX mutation. Male patients with DCX mutations generally present with the classical type of lissencephaly, severe developmental delay, and intractable epilepsy. However, somatic mosaic mutation of DCX can lead to SBH in males.