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., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.59, sa.3, ss.338-341, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Sayı: 3
  • Basım Tarihi: 2017
  • Doi Numarası: 10.24953/turkjped.2017.03.018
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.338-341
  • Anahtar Kelimeler: laminin alpha 2, congenital muscular dystrophy, occipital cortex, dysgenesis, CONGENITAL MUSCULAR-DYSTROPHY, CORTICAL DYSPLASIA, EPILEPSY
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.