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Case Reports
. 2013 Sep;45(5):371-4.

[A male case of subcortical band heterotopia with somatic mosaicism of DCX mutation]

[Article in Japanese]
Aiko Igarashi  1 , Masao Kawatani, Genrei Ohta, Hiroshi Kometani, Yusei Ohshima, Mitsuhiro Kato
Affiliations
  • PMID: 24205692
Case Reports

[A male case of subcortical band heterotopia with somatic mosaicism of DCX mutation]

[Article in Japanese]
Aiko Igarashi et al. No To Hattatsu. 2013 Sep.

Abstract

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.

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