Kwok Allan Mf, Still Andrew B, Hart Kimberly
Department of Surgery, Wollongong Hospital, Wollongong NSW 2500, Australia.
Department of Anatomical Pathology, Wollongong Hospital, Wollongong NSW 2500, Australia.
World J Gastrointest Surg. 2019 Feb 27;11(2):101-111. doi: 10.4240/wjgs.v11.i2.101.
Hypoganglionosis is a rare condition that most often presents with abnormal gastrointestinal transit and usually arises in early childhood or adolescence. Two types have been described (Type I and Type II). The adult-onset form (acquired hypoganglionosis) is extremely uncommon and is thought to arise due to cellular remodelling as a result of chronic inflammation. It differs from Hirschprung's disease in that there is a reduction in ganglion cells in the colonic neural plexuses as opposed to being completely absent.
A 31 year-old male presented to hospital with recurrent abdominal pain and vomiting over thirteen months. Abdominal computed tomography scans demonstrated thickening and stranding affecting the transverse, descending and sigmoid colon. Endoscopic appearances were non-specific but confirmed a mixed picture of mucosal inflammation and necrosis in various stages of healing. Numerous investigations were performed to elucidate an underlying aetiology but neither an infective nor ischaemic cause could be proven. Biopsy features were not typical of inflammatory bowel disease. Due to persistence of his symptoms and failure of medical management, a segmental colectomy was performed. Histological examination of the specimen revealed an unexpected finding of segmental hypoganglionosis. Complete surgical excision of the diseased segment of colon was curative and since his operation the patient has had no recurrence of symptoms requiring hospitalisation.
Our case serves to raise awareness of acquired hypoganglionosis as a rare condition that can result from chronic colitis.
低神经节症是一种罕见疾病，最常表现为胃肠运输异常，通常在儿童早期或青春期发病。已描述了两种类型（I型和II型）。成人发病型（获得性低神经节症）极为罕见，被认为是由于慢性炎症导致细胞重塑而引起的。它与先天性巨结肠症的不同之处在于，结肠神经丛中的神经节细胞减少，而不是完全缺失。
一名31岁男性因反复腹痛和呕吐13个月入院。腹部计算机断层扫描显示横结肠、降结肠和乙状结肠增厚并伴有条索状改变。内镜检查结果无特异性，但证实存在黏膜炎症和处于不同愈合阶段的坏死的混合表现。进行了多项检查以阐明潜在病因，但未证实感染性或缺血性病因。活检特征并非典型的炎症性肠病表现。由于症状持续且药物治疗无效，遂行节段性结肠切除术。标本的组织学检查发现了意外的节段性低神经节症。对患病结肠段进行完全手术切除具有治愈效果，自手术以来，患者未出现需要住院治疗的症状复发。
我们的病例有助于提高对获得性低神经节症这一可由慢性结肠炎导致的罕见疾病的认识。
