Stenzel P, Fitterer S
Department of Pathology, Oregon Health Sciences University, Portland.
Am J Gastroenterol. 1989 Sep;84(9):1115-9.
A 10-wk-old girl with growth failure and increasingly severe watery diarrhea underwent rectal biopsy which revealed diffuse mucosal fibrosis. Subsequent histologic study of mediastinal and subcutaneous masses established the diagnosis of multicentric infantile myofibromatosis. The patient died at 16 wk of age with tumor nodules in several visceral and parietal structures. The small and large intestines contained continuous, diffuse and nodular, mucosal and submucosal fibrosis. Twelve previously reported cases of multicentric infantile myofibromatosis involved the gastrointestinal tract; four had prominent gastrointestinal clinical manifestations. In two, diarrhea was prominent. The present case demonstrates the potential value of rectal biopsy in the diagnosis of infantile myofibromatosis with gastrointestinal manifestations.
一名10周大、生长发育迟缓且腹泻日益严重的女婴接受了直肠活检，结果显示弥漫性黏膜纤维化。随后对纵隔和皮下肿块进行的组织学研究确诊为多中心婴儿肌纤维瘤病。该患者在16周龄时死亡，多个内脏和壁层结构出现肿瘤结节。小肠和大肠均有连续性、弥漫性和结节性的黏膜及黏膜下纤维化。此前报道的12例多中心婴儿肌纤维瘤病累及胃肠道；4例有明显的胃肠道临床表现。其中2例腹泻突出。本例表明直肠活检在诊断有胃肠道表现的婴儿肌纤维瘤病方面具有潜在价值。
