Scrigni Adriana V, Bottero Adriana, Bosaleh Andrea, Aisenberg Nuria, Paglia Marcela, Manfrin Lisandro, Luong Tai C
Servicio de Clínica Médica. Hospital de Pediatría "Prof. Dr. Juan P. Garrahan", Buenos Aires, Argentina.
Servicio de Gastroenterología. Hospital de Pediatría "Prof. Dr. Juan P. Garrahan", Buenos Aires, Argentina.
Arch Argent Pediatr. 2017 Jun 1;115(3):e157-e161. doi: 10.5546/aap.2017.e157.
Tuberous sclerosis is an autosomal dominant disorder with a wide clinical spectrum of disease. It is characterized by development of benign tumors in multiple organs due to a disturbance in cellular growth and differentiation. It usually affects skin, brain, heart and kidney. Gastrointestinal involvement is rare and mainly restricted to adults and sigmoid colon and rectum. In children there are only two cases; our patient would be the third. We present a patient with tuberous sclerosis who began at the first month of life with repeated intestinal subocclusion. The videocolonoscopy showed a mass protruding into the lumen of the ascending colon. Right hemicolectomy was performed. The anatomopathological report corresponded to a hamartomatous polyp. The clinical and nutritional evolution in the postoperative period was very favorable. Although uncommon, the hamartomatous polyp should be considered in the differential diagnosis of intestinal occlusion in pediatrics.
结节性硬化症是一种常染色体显性疾病，临床疾病谱广泛。其特征是由于细胞生长和分化紊乱，多个器官出现良性肿瘤。它通常影响皮肤、大脑、心脏和肾脏。胃肠道受累罕见，主要局限于成人以及乙状结肠和直肠。儿童中仅有两例报道；我们的患者将是第三例。我们报告一名患有结节性硬化症的患者，该患者在出生后第一个月就开始反复出现肠道不全梗阻。电子结肠镜检查显示一个肿块突入升结肠管腔。遂行右半结肠切除术。解剖病理学报告显示为错构瘤性息肉。术后临床和营养状况进展非常顺利。尽管罕见，但在小儿肠梗阻的鉴别诊断中应考虑错构瘤性息肉。
