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桑贾德-萨卡蒂综合征患儿内脏肌病导致慢性肠假性梗阻和肠衰竭。

Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome.

机构信息

Division of Pediatric Surgery, Department of Surgery, College of Medicine, King Faisal University, King Fahad Hospital of the University, Al Khobar, Kingdom of Saudi Arabia.

出版信息

J Pediatr Surg. 2010 Feb;45(2):430-4. doi: 10.1016/j.jpedsurg.2009.12.004.

Abstract

Sanjad-Sakati syndrome is a rare autosomal recessive disorder mainly occurring in the Arab Peninsula. This condition is associated with metabolic and septic complications starting in the neonatal period. Chronic intestinal pseudoobstruction owing to visceral myopathy is a rare disabling condition. We report a rare concurrence of Sanjad-Sakati syndrome and chronic intestinal pseudoobstruction in a Saudi child complicated by intestinal failure, sepsis, and early mortality.

摘要

Sanjad-Sakati 综合征是一种罕见的常染色体隐性遗传病,主要发生在阿拉伯半岛。这种疾病与新生儿期开始的代谢和脓毒症并发症有关。内脏肌病引起的慢性假性肠梗阻是一种罕见的致残性疾病。我们报告了一例沙特儿童罕见同时患有 Sanjad-Sakati 综合征和慢性假性肠梗阻,并发肠衰竭、脓毒症和早期死亡。

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