Occipital cortex dysgenesis with white matter changes due to mutations in Laminin alpha 2

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YİŞ U., Dixit V., Isikay S., Karakaya M., Baydan F., Diniz G., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.59, no.3, pp.338-341, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 3
  • Publication Date: 2017
  • Doi Number: 10.24953/turkjped.2017.03.018
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.338-341
  • Keywords: laminin alpha 2, congenital muscular dystrophy, occipital cortex, dysgenesis, CONGENITAL MUSCULAR-DYSTROPHY, CORTICAL DYSPLASIA, EPILEPSY
  • Dokuz Eylül University Affiliated: Yes

Abstract

Laminin alpha 2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement. It may be associated with significant white matter abnormalities resembling leukodystrophies. In this study, we elaborated on two cases with laminin alpha 2 related congenital muscular dystrophy who had occipital cortex dysgenesis in addition to characteristic white matter abnormalities. Although laminin alpha 2 related congenital muscular dystrophy with white matter abnormalities is known, the association with occipital cortex dysplasia has been not well recognized by clinical colleagues.