The Turkish Journal of Pediatrics 2017 , Vol 59 , Num 3
Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2
Uluç Yiş 1 ,Vishal Dixit 5 ,Sedat Işıkay 2 ,Mert Karakaya 5 ,Figen Baydan 3 ,Gülden Diniz 4 ,İpek Polat 1 ,Semra Hız-Kurul 1 ,Sebahattin Çırak 5
1 Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University School of Medicine, İzmir
2 Division of Child Neurology, Department of Pediatrics, Sütçü İmam University, School of Medicine, Kahramanmaraş
3 Division of Child Neurology, Tepecik Training and Research Hospital, İzmir
4 Neuromuscular Disease Center, Tepecik Training and Research Hospital, İzmir
5 Institut für Humangenetik am Universitätsklinikum, Köln, Germany
6 Department of Pediatrics, University Hospital Cologne, Cologne, Germany
7 Centre for Molecular Medicine, University Hospital Cologne, Cologne, Germany
DOI : 10.24953/turkjped.2017.03.018 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 : laminin α2, congenital muscular dystrophy, occipital cortex, dysgenesis

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