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由于层粘连蛋白α2突变导致枕叶皮质发育不全伴白质改变。

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

作者信息

Yiş Uluç, Dixit Vishal, Işıkay Sedat, Karakaya Mert, Baydan Figen, Diniz Gülden, Polat İpek, Hız-Kurul Semra, Çırak Sebahattin

机构信息

Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University School of Medicine, İzmir.

Institut für Humangenetik am Universitätsklinikum, Köln, Germany.

出版信息

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.

摘要

伊什 U、迪西特 V、伊什卡伊 S、卡拉卡亚 M、巴伊丹 F、迪尼兹 G、波拉特 İ、希兹-库鲁尔 S、奇拉克 S。由于层粘连蛋白 a2 突变导致枕叶皮质发育不全伴白质改变。《土耳其儿科学杂志》2017 年;59: 338 - 341。层粘连蛋白α2 相关先天性肌营养不良是儿童期最常见的先天性肌营养不良之一,有或无中枢神经系统受累的临床证据。它可能与类似脑白质营养不良的显著白质异常有关。在本研究中,我们详细阐述了两例层粘连蛋白α2 相关先天性肌营养不良病例,这些病例除了具有特征性的白质异常外,还伴有枕叶皮质发育不全。虽然已知层粘连蛋白α2 相关先天性肌营养不良伴有白质异常,但临床同行对其与枕叶皮质发育异常的关联尚未充分认识。

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