Abdi Abdishakur Mohamed, Ali Abdullahi Yusuf, Göl Ismail Hakki
Pediatric Surgery Department in Mogadishu Somali Turkish Training and Research Hospital, Mogadishu, Somalia.
Pediatric Surgery Department in Mogadishu Somali Turkish Training and Research Hospital, Mogadishu, Somalia.
Int J Surg Case Rep. 2022 Apr;93:106952. doi: 10.1016/j.ijscr.2022.106952. Epub 2022 Mar 15.
Waardenburg-Shah disorder could be an uncommon autosomal recessive inherited ailment characterized by aganglionic megacolon with a high mortality rate. Babies born with Waardenburg syndrome may have typical features of hair, skin and eye pigmentary abnormalities, and hearing loss. Here we present a case with typical presentation of Waardenburg Shah syndrome.
This is a case of neonatal intestinal obstruction caused by a rare syndrome known as Waardenburg-Shah syndrome, with clinical manifestations of abdominal distension, bilious vomiting, and a history of delayed meconium passage with a family history of variant forms of this syndrome. The patients underwent first laparotomy, which found no atresia.post op colongarphy revealed a narrowed colon. Then reoperated, and a biopsy was taken and opened ileostomy. The pathology result showed gangilion negative. The patient was lost due to uncontrollable sepsis at the age of 2 months.
Waardenurg syndrome is a congenital audito-pigmentary syndrome first described in 1951.Waardenurg syndrome is classified into four types, WS1 to WS4, and they share the common presence of congenital sensoneural hearing loss and pigmentary defects. The diagnosis of WS has major and minor criteria. The definitive management of this disorder involves surgical removal of aganglionic segment of the bowel and connecting functioning gangilioic bowel to the anus.
Shah-Waardenburg syndrome TYPE-4 is a relatively unusual syndrome characterized by a higher prevalence of whole colonic aganglionosis with or without small bowel involvement, resulting in substantial morbidity and mortality in the neonatal age range.
瓦登伯格-沙阿综合征是一种罕见的常染色体隐性遗传病，其特征为先天性巨结肠，死亡率较高。患有瓦登伯格综合征的婴儿可能具有毛发、皮肤和眼部色素异常以及听力丧失的典型特征。在此，我们报告一例具有典型瓦登伯格-沙阿综合征表现的病例。
这是一例由罕见的瓦登伯格-沙阿综合征引起的新生儿肠梗阻病例，临床表现为腹胀、胆汁性呕吐，有胎粪排出延迟史，且有该综合征变异型的家族史。患者首次接受剖腹探查术，未发现闭锁。术后结肠造影显示结肠狭窄。随后再次手术，并进行活检及开放回肠造口术。病理结果显示神经节阴性。该患者在2个月大时因无法控制的败血症死亡。
瓦登伯格综合征是一种先天性听觉色素综合征，于1951年首次被描述。瓦登伯格综合征分为四种类型，即WS1至WS4，它们都有先天性感音神经性听力损失和色素缺陷的共同表现。WS的诊断有主要和次要标准。该疾病的确定性治疗包括手术切除无神经节的肠段，并将有功能的神经节肠段与肛门相连。
4型沙阿-瓦登伯格综合征是一种相对不常见的综合征，其特征是全结肠无神经节症的患病率较高，可伴有或不伴有小肠受累，在新生儿期可导致较高的发病率和死亡率。
