Githu Tangayi, Merrow Arnold C, Lee Jason K, Garrison Aaron P, Brown Rebeccah L
Department of Radiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., MLC 5031, Cincinnati, OH, 45229, USA.
Pediatr Radiol. 2014 Mar;44(3):349-54. doi: 10.1007/s00247-013-2801-3. Epub 2013 Oct 6.
Hereditary multiple intestinal atresia (HMIA) is an extremely uncommon cause of congenital bowel obstruction. The morbidity and mortality of this disease differ significantly from those of isolated intestinal atresias and non-hereditary forms of multiple intestinal atresia. Most notably, despite successful operative repairs of the atresias found in this disease, HMIA maintains a 100% lethality rate from continued post-operative intestinal failure and an associated severe immunodeficiency. We present a case of HMIA evaluated with fetal MRI and subsequently diagnosed by a combination of corroborative postnatal imaging with surgical exploration and pathological examination.
遗传性多发性肠闭锁（HMIA）是先天性肠梗阻极为罕见的病因。该疾病的发病率和死亡率与孤立性肠闭锁及非遗传性多发性肠闭锁有显著差异。最值得注意的是，尽管对该疾病中发现的闭锁进行了成功的手术修复，但HMIA因术后持续的肠功能衰竭及相关严重免疫缺陷，致死率仍为100%。我们报告一例通过胎儿磁共振成像（MRI）评估，随后经产后影像学检查、手术探查及病理检查相结合确诊的HMIA病例。
