Hemophagocytic lymphohistiocytosis presenting in a pediatric patient with near total colonic and small bowel aganglionosis: a case report

J Med Case Rep. 2017 Aug 31;11(1):244. doi: 10.1186/s13256-017-1390-4.


Background: 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.

Case presentation: 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.

Conclusions: 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.

Keywords: Hemophagocytic lymphohistiocytosis; Total colonic aganglionosis.

Publication types

  • Case Reports

MeSH terms

  • Chemical and Drug Induced Liver Injury* / diagnosis
  • Chemical and Drug Induced Liver Injury* / etiology
  • Child, Preschool
  • Fatal Outcome
  • Hematopoietic Stem Cell Transplantation / methods
  • Hirschsprung Disease* / complications
  • Hirschsprung Disease* / diagnosis
  • Hirschsprung Disease* / physiopathology
  • Hirschsprung Disease* / therapy
  • Humans
  • Infusions, Parenteral / methods
  • Lymphohistiocytosis, Hemophagocytic* / diagnosis
  • Lymphohistiocytosis, Hemophagocytic* / etiology
  • Lymphohistiocytosis, Hemophagocytic* / therapy
  • Male
  • Organ Transplantation / methods
  • Parenteral Nutrition Solutions / administration & dosage
  • Parenteral Nutrition Solutions / adverse effects*
  • Patient Care Planning
  • Viscera / transplantation


  • Parenteral Nutrition Solutions

Supplementary concepts

  • Aganglionosis, total intestinal