Pirgon Ozgur, Atabek Mehmet Emre, Esen H Hasan, Cangul H
Department of Pediatric Endocrinology, School of Medicine, Selcuk University, Konya, Turkey.
J Pediatr Endocrinol Metab. 2007 Jul;20(7):833-6. doi: 10.1515/jpem.2007.20.7.833.
Infantile systemic hyalinosis is an autosomal recessive disorder characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscles and glands. The molecular basis of infantile systemic hyalinosis is unknown. The main pathological feature is widespread hyalinosis of many tissues and organs. We present an 18 month-old girl with infantile systemic hyalinosis and hypothyroidism. Newly diagnosed children with infantile systemic hyalinosis should have thyroid studies as a routine part of diagnostic work-up.
婴儿全身性透明变性是一种常染色体隐性疾病，其特征为皮肤、胃肠道、肌肉和腺体中出现弥漫性透明质沉积。婴儿全身性透明变性的分子基础尚不清楚。主要病理特征是许多组织和器官广泛的透明变性。我们报告一名患有婴儿全身性透明变性和甲状腺功能减退症的18个月大女孩。新诊断的婴儿全身性透明变性患儿应将甲状腺检查作为诊断性检查的常规部分。
