疑难病研究——遗传性巨十二指肠症

A difficult and complicated case study: hereditary megaduodenum

摘要:

报道1例遗传性巨十二指肠症的病例,该病为一种以家族性空腔脏器肌病为特点的少见病,可能为常染色体显性遗传病。此病儿童发病罕见,临床表现为反复发作的假性消化道梗阻,以间断发生的呕吐、腹胀为主要症状,可造成营养障碍、发育迟缓。钡餐检查可见十二指肠扩张,食道测压显示食道蠕动功能受损。病理形态学上表现多样,可见肠壁的炎性浸润、平滑肌层变薄,纤维组织增生。确诊需结合家族史、病理检查及影像学和功能学检查方可作出。手术治疗可暂时缓解症状但无法治愈该病。

Abstract:

This paper reported a 13-year-old girl with hereditary megaduodenum.This disease rarely occurs in children. It is a rare familial disease with autosomal dominant transmission characterized by hollow visceral myopathy.It usually presents as recurrent intestinal pseudo-obstruction, clinically manifesting intermittent vomiting and abdominal distention,which can lead to malnutrition and growth retardation. Barium meal examination displays duodenum distention and esophageal manometry reveals esophageal dystonia. The histological features include inflammatory infiltration, marked thinning and fibrosis of the smooth muscle in the intestinal specimens. Diagnosis of the disease depends on the familial history, histological examination, radiographic and esophageal function examinations. Treatment is based on diet and control of bacterial overgrowth. Surgical operation can relieve obstructive symptoms.