Kern I B, Leece A, Bohane T
Prince of Wales Children's Hospital, Randwick, N.S.W., Australia.
J Pediatr Gastroenterol Nutr. 1990 Oct;11(3):411-5. doi: 10.1097/00005176-199010000-00023.
A familial syndrome of congenital short small bowel, malrotation, and functional bowel obstruction is presented and illustrated in three male siblings with one long-term survivor. Including the present three cases there have been 18 similar cases found in the literature. This disorder appears to be a sex-linked recessive inheritance. Early barium meal and follow through in siblings of patients with this condition will detect malrotation that should be surgically corrected in order to prevent mid-gut volvulus. Intravenous alimentation and early introduction of enteral feeding is important, not only to maintain nutrition but to encourage adaptation of the associated short and dysmotile bowel. These measures aim to improve the outcome of this frequently, but not invariably, fatal disorder.
本文报告了一种先天性短小肠、肠旋转不良和功能性肠梗阻的家族综合征，并对三名男性同胞进行了说明，其中一名长期存活。包括目前这三例在内，文献中已发现18例类似病例。这种疾病似乎是X连锁隐性遗传。对此类疾病患者的同胞进行早期钡餐检查及随访，可发现肠旋转不良，应进行手术矫正，以预防中肠扭转。静脉营养支持和早期引入肠内喂养很重要，这不仅有助于维持营养，还能促进相关短小肠和运动障碍性肠的适应性。这些措施旨在改善这种常导致死亡（但并非总是如此）的疾病的预后。
