Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2

Turk J Pediatr. 2017;59(3):338-341. doi: 10.24953/turkjped.2017.03.018.

Abstract

Yiş U, Dixit V, Işıkay S, Karakaya M, Baydan F, Diniz G, Polat İ, Hız-Kurul S, Çırak S. Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2. Turk J Pediatr 2017; 59: 338-341. Laminin α2 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 α2 related congenital muscular dystrophy who had occipital cortex dysgenesis in addition to characteristic white matter abnormalities. Although laminin α2 related congenital muscular dystrophy with white matter abnormalities is known, the association with occipital cortex dysplasia has been not well recognized by clinical colleagues.

Keywords: congenital muscular dystrophy; dysgenesis; laminin α2; occipital cortex.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exome Sequencing
  • Humans
  • Infant
  • Laminin / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Malformations of Cortical Development / complications
  • Malformations of Cortical Development / genetics*
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / genetics*
  • Mutation
  • Occipital Lobe / abnormalities*
  • Occipital Lobe / diagnostic imaging
  • White Matter / abnormalities*
  • White Matter / diagnostic imaging

Substances

  • Laminin
  • laminin alpha 2