A rare case of multiple skip segment Hirschsprung’s disease in the ileum and colon

Erten, Elif Emel; Çavuşoğlu, Yusuf Hakan; Arda, Nilüfer; Karaman, Ayşe; Afşarlar, Çağatay Evrim; Karaman, Íbrahím; Özgüner, İsmet Faruk

doi:10.1007/s00383-013-3428-z

Cited by 12 publications

(6 citation statements)

References 9 publications

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“…Three phenotypes are usually recognized, including (i) total colonic aganglionosis (TCA), which involves the entire colon which is aganglionic with a potential proximal extension into varying lengths of small bowel (usually no more than 50 cm of small bowel proximal to the ileocaecal valve), (ii) total colonic and small bowel aganglionosis, which may involve very long segments of small bowel aganglionosis, and (iii) the more frequent rectal or rectal/sigmoid colonic aganglionosis (RA or RSCA). A debate over the definition and occurrence of several phenotypical entities, including the ultrashort segment and the skip-segmental aganglionosis is ongoing (13,(16)(17)(18)(19)(20)(21)(22). The majority of treatment remains surgical, while intense efforts are exploring the use of ENS stem cells by means of transplantation (12,23).…”

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confidence: 99%

Hirschsprung’s disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives

et al. 2016

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On the occasion of the 100th anniversary of Dr. Harald Hirschsprung's death, there is a worldwide significant research effort toward identifying and understanding the role of genes and biochemical pathways involved in the pathogenesis as well as the use of new therapies for the disease harboring his name (Hirschsprung disease, HSCR). HSCR (aganglionic megacolon) is a frequent diagnostic and clinical challenge in perinatology and pediatric surgery, and a major cause of neonatal intestinal obstruction. HSCR is characterized by the absence of ganglia of the enteric nervous system, mostly in the distal gastrointestinal tract. This review focuses on current understanding of genes and pathways associated with HSCR and summarizes recent knowledge related to micro RNAs (miRNAs) and HSCR pathogenesis. While commonly sporadic, Mendelian patterns of inheritance have been described in syndromic cases with HSCR. Although only half of the patients with HSCR have mutations in specific genes related to early embryonic development, recent pathway-based analysis suggests that gene modules with common functions may be associated with HSCR in different populations. This comprehensive profile of functional gene modules may serve as a useful resource for future developmental, biochemical, and genetic studies providing insights into the complex nature of HSCR.

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confidence: 99%

Hirschsprung’s disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives

et al. 2016

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“…Neural hypertrophy is absent in cases of TCA and TCSA, further complicating the identification of a potential transition zone. We identified three case reports that describe an unusual form of HD where the patients presented with multiple skip segments of aganglionosis [8–10]. No reports have identified de novo or delayed appearance of ganglion cells on serial biopsies.…”

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confidence: 99%

Delayed appearance of mature ganglia in an infant with an atypical presentation of total colonic and small bowel aganglionosis: a case report

et al. 2019

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Background Total colonic and small bowel aganglionosis (TCSA) occurs in less than 1% of all Hirschsprung’s disease patients. Currently, the mainstay of treatment is surgery. However, in patients with TCSA, functional outcomes are often poor. A characteristic transition zone in TCSA can be difficult to identify which may complicate surgery and may often require multiple operations. Case presentation We present the case of a male infant who was diagnosed with biopsy-proven total colonic aganglionosis with extensive small bowel involvement as a neonate. The patient was diverted at one month of age based on leveling biopsies at 10 cm from the Ligament of Treitz. At 7 months of age, during stoma revision for a prolapsed stoma, intra-operative peristalsis was observed in nearly the entire length of the previously aganglionic bowel, and subsequent biopsies demonstrated the appearance of mature ganglion cells in a previously aganglionic segment. Conclusions TCSA remains a major challenge for pediatric surgeons. Our case introduces new controversy to our understanding of aganglionosis. Our observations warrant further research into the possibility of post-natal ganglion maturation and encourage surgeons to consider a more conservative surgical approach.

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“…16 Surgical resection and enterostomy are required if nasogastric and rectal tubes cannot provide ideal decompression. 17 In cases of both diffuse or segmental mural thickening and intestinal dilatation without endoluminal obvious obstruction VM must be included in differential diagnosis as a cause of intestinal obstruction as well as palpable mass in a child. Inflammatory bowel diseases, intestinal lymphoma, and intestinal lymphangiectasia could be differential diagnoses in patients with multiple lymph nodes located in the mesenteric region in addition to intestinal wall thickening.…”

Section: Discussionmentioning

confidence: 99%

Multimodality imaging findings of visceral myopathy in a child presenting with palpable abdominal mass

et al. 2019

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Bayramoğlu Z, Yılmaz R, Demir AA, Ataizi-Çelikel Ç, Kombak FE, İkinci A, Yekeler E. Multimodality imaging findings of visceral myopathy in a child presenting with palpable abdominal mass. Turk J Pediatr 2019; 61: 120-125.Visceral myopathy is a rare cause of intestinal obstruction characterized by intestinal dysmotility and constipation. Patients often present with recurrent abdominal pain, vomiting and abdominal distension. We report a rare case of visceral myopathy in a child presenting with intraabdominal mass. We aimed to describe ultrasound, computed tomography and magnetic resonance enterography findings of this rare disease that has not been demonstrated before. Differential diagnosis of mural thickening with distinguishable layers in addition to intestinal dilatation in the absence of mesenteric inflammation includes visceral myopathy.

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A rare case of multiple skip segment Hirschsprung’s disease in the ileum and colon

Cited by 12 publications

References 9 publications

Hirschsprung’s disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives

Hirschsprung’s disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives

Delayed appearance of mature ganglia in an infant with an atypical presentation of total colonic and small bowel aganglionosis: a case report

Multimodality imaging findings of visceral myopathy in a child presenting with palpable abdominal mass

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