Badal Brittany, Wilsey Michael J, Karjoo Sara
Johns Hopkins All Children's Hospital, 501 6th Ave S, St. Petersburg, FL, 33701, USA.
J Med Case Rep. 2017 Aug 31;11(1):244. doi: 10.1186/s13256-017-1390-4.
Total colonic and small bowel aganglionosis is a rare condition typically requiring intestinal transplant for long-term survival. There have not been any previously reported cases of near total intestinal aganglionosis complicated by concerns for hemophagocytic lymphohistiocytosis and need for both multivisceral organ transplant and hematopoietic stem cell transplant.
Our patient is a 35-month-old Egyptian boy who presented with bilious emesis and failure to pass meconium shortly after birth. After evaluation, he was found to have near total colonic and small bowel aganglionosis up to the ligament of Treitz. When he was transferred to our tertiary facility, he was already diagnosed as having aganglionosis of total colon and partial small bowel whose case is complicated by the concern for hemophagocytic lymphohistiocytosis. He was not able to absorb any substantial nutrition enterally and was stabilized on long-term total parenteral nutrition which resulted in total parenteral nutrition-induced liver injury. While awaiting evaluation for liver and bowel transplant, he developed concerning symptoms consistent with hemophagocytic lymphohistiocytosis. He presents a complex challenge creating difficulty with management of whether to proceed with bowel transplant as a result of near-total intestinal aganglionosis or hematopoietic stem cell transplant for treatment of hemophagocytic lymphohistiocytosis. In this case, the transplant team proceeded with visceral transplant first, however he did not survive.
This presentation of aganglionosis of total colon and partial small bowel complicated by the concern for hemophagocytic lymphohistiocytosis is unique to medical literature. For many physicians involved it is hard to determine how best to proceed with next steps in care.
全结肠和小肠无神经节症是一种罕见疾病，通常需要进行肠道移植以实现长期生存。此前尚无全结肠和小肠无神经节症合并噬血细胞性淋巴组织细胞增生症的相关病例报道，也没有同时需要多脏器移植和造血干细胞移植的情况。
我们的患者是一名35个月大的埃及男孩，出生后不久即出现胆汁性呕吐且未排出胎粪。经评估，发现其Treitz韧带以上的结肠和小肠几乎完全无神经节。当他被转至我们的三级医疗机构时，已被诊断为全结肠和部分小肠无神经节症，且病例因噬血细胞性淋巴组织细胞增生症而变得复杂。他无法通过肠道吸收任何大量营养物质，依靠长期全胃肠外营养维持稳定，但这导致了全胃肠外营养性肝损伤。在等待肝脏和肠道移植评估期间，他出现了与噬血细胞性淋巴组织细胞增生症相符的令人担忧的症状。由于几乎全肠道无神经节症，对于是否进行肠道移植还是进行造血干细胞移植来治疗噬血细胞性淋巴组织细胞增生症，这给他的治疗带来了复杂的挑战，难以抉择。在本病例中，移植团队首先进行了多脏器移植，但他最终未能存活。
全结肠和部分小肠无神经节症合并噬血细胞性淋巴组织细胞增生症的这种病例在医学文献中是独一无二的。对于许多参与治疗的医生来说，很难确定如何最好地进行下一步治疗。
