Sundaram Sandhya, Brown Robert E, Zhang Ping L
Department of Pathology, Sri Ramachandra Medical College, Porur, Chennai, India.
Ann Clin Lab Sci. 2008 Spring;38(2):143-8.
Various pathological abnormalities of smooth muscle and innervation result in clinical syndromes with disordered motility of the small intestine and colon. Although these abnormalities have been extensively reported clinically, their pathologic changes and pathophysiologic mechanisms have not been well elucidated. We report a case of visceral neuropathy with secondary muscle changes in a 7-yr-old ventilator dependent, mentally retarded child who presented with a history of chronic constipation and symptoms of intestinal obstruction. The muscle layer of the colectomy specimen showed extensive infiltration of vacuolated cells that were positive for S-100 and synaptophysin but negative for glial fibrillary acidic protein (GFAP) and neural filament protein (NFP). Calretinin positivity was preserved in submucosal ganglion cells but was absent in vacuolated nerve branches. Masson's trichrome stain showed evidence of fibrosis, indicative of muscle damage. There was a reduced number of intestinal cells of Cajal in the muscularis propria, as indicated by CD117 (c-kit) immunostaining. This disorder is most likely a sporadic visceral neuropathy, secondarily affecting muscular function, that causes colonic pseudo-obstruction.
平滑肌和神经支配的各种病理异常会导致小肠和结肠运动紊乱的临床综合征。尽管这些异常在临床上已有广泛报道，但其病理变化和病理生理机制尚未得到充分阐明。我们报告了一例7岁依赖呼吸机、智力发育迟缓的儿童内脏神经病变继发肌肉改变的病例，该患儿有慢性便秘病史及肠梗阻症状。结肠切除标本的肌层显示有大量空泡化细胞浸润，这些细胞S-100和突触素呈阳性，但胶质纤维酸性蛋白（GFAP）和神经丝蛋白（NFP）呈阴性。钙视网膜蛋白在黏膜下神经节细胞中呈阳性，但在空泡化神经分支中缺失。马松三色染色显示有纤维化迹象，提示肌肉损伤。肌层中Cajal间质细胞数量减少，CD117（c-kit）免疫染色表明了这一点。这种疾病很可能是一种散发性内脏神经病变，继发影响肌肉功能，导致结肠假性梗阻。
