临床诊断为先天性巨结肠症的肠神经元发育不良症

目的：对临床诊断为先天性巨结肠症（HD）而术后病理诊断确定为肠神经元发育不良症（IND）病例进行回顾性分析。方法：1995年1月－1999年12月140例临床诊断HD并经过根治手术患儿，其中12例（8．6％）术后病理诊断为IND，女1例，男11例，平均年龄29．28个月。结果：所有IDN患儿切除肠管病检均可发现粘膜下神经丛神经节细胞增多和巨大神经节，术前测压检查有4例，肛管直肠抑制反射（RAIR）阳性，占33．33％（4／12），直肠粘膜AchE组织化学检查有5例阴性，占41．675（5／12），而128例HD患儿则分别为15例占11．72％（15／128）和17例占13．28％（17／128），两组病例的测压和组化检查结果有明显差异，所有患儿均行手术治疗。结论：IND病例的术前检查表现为测压RAIR反射阳性率和组化检测阴性率明显高于典型HD病例；目前所沿用的测压－组化－钡灌肠诊断模式尚不能解决IND的术前诊断问题，临床及术中表现极类似地HD的病例，经典的根治术也可获得良好的治疗效果。

Intestinal neuronal dysplasia among patients with clinical diagnosis as Hirschsprung''''s disease

Objective To review the incidence of intestinal neuronal dysplasia (IND) previously diagnosed as Hirschsprung's disease (HD). Methods Between January 1995 and December 1999, 140 patients underwent radical operation on HD. Among them, twelve ( 8.6% ) were later diagnosed as IND by pathologic examination. There were 11 boys and 1 girl with age ranging from 10 days to 95 months. Results The patients diagnosed of IND was based on the presence of hyperganglionosis of the submucous plexus and giant ganglia in the resected intestinal wall. Four patients ( 33.33% ) had a positive recto anal inhibitive reflex (RAIR) and 5/12 ( 41.67% ) had negative acetylcholinesterase (AChE) histochemical examination in IND group. Compared with 128 HD patients, there were 15 cases ( 11.72% ) and 17( 13.28% ) respectively ( P < 0.05 and P < 0.01 ). All patients had good results. Conclusions Positive rate of RAIR and negative rate of AchE examination are higher in IND patients than those in HD. Preoperative examination procedure of manometry, AchE and barium enema are not reliable to establish the diagnosis of IND. The clinical presentation, operative procedure and outcome of IND are similar to those of HD.