Case 22: Total Colonic Aganglionosis—Long-Segment Hirschsprung Disease

Daffner, Richard H.; Mk, Dalinka; Alazraki, Naomi P.; Berquist, T H; DeSmet, Arthur A.; el-Khoury, G Y; Goergen, TG; Te, Keats; Manaster, B.J.; Newberg, Arthur H.; Pavlov, Helene; Schweitzer, Mark E.; Haralson, Robert H.; McCabe, John B.

doi:10.1148/radiology.215.2.r00ma32391

Cited by 22 publications

(10 citation statements)

References 13 publications

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“…Management of DS with aganglionosis can safely include a defi nitive operation for HD, but patients are at a risk of developing complications in up to 40 % of cases [3,11,14] . HD presenting with signs of NEC in patients with DS is not reported [6] , and particularly in these patients Hirschsprung ' s colitis may lead to sepsis and death [19] . Raising the suspicion of this association is mandatory for early correct diagnosis, in particular for TCA [15] .…”

Section: Discussionmentioning

confidence: 99%

Patients with Anorectal Malformation and Hirschsprung's Disease

Eh¹

2009

Eur J Pediatr Surg

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The association between ARM and intestinal dysganglionosis is not rare. We recommend not using the distal rectal pouch and parts of the fistula in the reconstruction of anorectal malformations as this may solve the constipation if the pathology is limited. In cases of aganglionosis beyond the rectal pouch and fistula, surgical intervention is needed. Delay in diagnosis may lead to morbidity or even mortality.

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Section: Discussionmentioning

confidence: 99%

Patients with Anorectal Malformation and Hirschsprung's Disease

Eh¹

2009

Eur J Pediatr Surg

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“…Similar to Hirschsprung’s disease, patients affected classically demonstrate inability to tolerate feeds, failure to pass meconium stool, bilious vomiting, and abdominal distention. Patients with near-total or total intestinal aganglionosis demonstrate a lack of ganglionic fibers extending throughout the submucosa of the colon [ 2 ]. In recent decades the use of long-term total parenteral nutrition (TPN) and increasing intestinal transplantation has improved survival opportunities for these patients.…”

Section: Introductionmentioning

confidence: 99%

“…It has also been linked to genetic mutations in the RET (rearranged during transfection) proto-oncogene, EDNRB-EDN-3 (endothelin-3 gene), and the SOX-10 (SRY-like homeobox 10) gene [ 4 , 5 ]. Patients with total colonic aganglionosis with small bowel involvement have been noted to have increased mortality rates [ 2 ]. Here we present a unique case of pseudo-obstruction due to total aganglionosis of the colon and partial small bowel.…”

Section: Introductionmentioning

confidence: 99%

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

2017

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BackgroundTotal 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 presentationOur 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.ConclusionsThis 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.

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“…A aganglionose total do cólon (ATC), com ou sem acometimento do intestino delgado, é uma forma da doença de Hirschsprung, que embora rara, tem sido diagnosticada com freqüência crescente (1,2) . Em estudo comparado, a ATC tem uma incidência maior de complicações, além de certas particularidades diagnósticas e terapêuticas que justificam sua análise separada da forma clássica segmentar da doença de Hirschsprung (3) .…”

Section: Introductionunclassified

“…Qualquer recém-nascido com sinais de obstrução intestinal baixa deve ser examinado com enema opaco com contraste hidrossolúvel. As causas de obstrução intestinal baixa nesta fase incluem: ânus imperfurado, síndrome da rolha meconial, íleo meconial, síndrome do hemicólon esquerdo curto, doença de Hirschsprung, síndrome da megabexiga, microcólon e hipoperistalse intestinal, atresias ou estenoses colônica, ileal e jejunal distal (2) .…”

Section: Introductionunclassified

Aganglionose total do cólon: aspectos radiológicos

Caserta¹,

Pacheco²,

Silva³

et al. 2004

Radiol Bras

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A partir da observação de três pacientes com aganglionose total do cólon e de revisão da literatura, os autores salientam as particularidades diagnósticas desta entidade que justificam uma análise separada da forma típica da doença de Hirschsprung. Não há sinais radiológicos patognomônicos e o diagnóstico definitivo somente pode ser obtido pelo estudo histopatológico. Considerando sua alta incidência de complicações e mortalidade, a aganglionose total do cólon deve ser considerada em todo recém-nascido ou criança maior com evidências radiológicas de obstrução intestinal, quaisquer que sejam os achados de enema opaco.

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Case 22: Total Colonic Aganglionosis—Long-Segment Hirschsprung Disease

Cited by 22 publications

References 13 publications

Patients with Anorectal Malformation and Hirschsprung's Disease

Patients with Anorectal Malformation and Hirschsprung's Disease

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

Aganglionose total do cólon: aspectos radiológicos

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