Total intestinal aganglionosis

Caniano, Donna A.; Ormsbee, Herbert S.; Polito, William; Sun, Chen; Barone, Frank C.; Hill, Jeffrey L.

doi:10.1016/s0022-3468(85)80241-4

Cited by 66 publications

(28 citation statements)

References 13 publications

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“…2) (2-15%) [1,5,9,[141][142][143][144][145][146][147] (Table 2) with HSCR disease, for instance, is important as it indicates a probable ''modifying'' site on chromosome 21 [5,148]. This is thought to be related to the Down's critical region at 21q22 but not necessarily part of it.…”

Section: Trisomy 21 and Hscrmentioning

confidence: 99%

The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

Moore

2006

Ped Surgery Int

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Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular perspective, appears to result due to disruption of normal signalling during development of enteric nerve cells, resulting in aganglionosis of the distal bowel. Associated congenital anomalies occur in at least 5-32% (mean 21%) of patients and certain syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction in its pathogenesis. Clear-cut associations with HSCR include Down's syndrome, dominant sensorineural deafness, Waardenburg syndrome, neurofibromatosis, neuroblastoma, phaeochromocytoma, the MEN type IIB syndrome and other abnormalities. Individual anomalies vary from 2.97% to 8%, the most frequent being the gastrointestinal tract (GIT) (8.05%), the central nervous system (CNS) and sensorineural anomalies (6.79%) and the genito-urinary tract (6.05%). Other associated systems include the musculoskeletal (5.12%), cardiovascular systems (4.99%), craniofacial and eye abnormalities (3%) and less frequently the skin and integumentary system (ectodermal dysplasia) and syndromes related to cholesterol and fat metabolism. In addition to associations with neuroblastoma and tumours related to MEN2B, HSCR may also be associated with tumours of neural origin such as ganglioneuroma, ganglioneuroblastoma, retinoblastoma and tumours associated with neurofibromatosis and other autonomic nervous system disturbances. The contribution of the major susceptibility genes on chromosome 10 (RET) and chromosome 13 (EDNRB) is well established in the phenotypic expression of HSCR. Whereas major RET mutations may result in HSCR by haploinsufficiency in 20-25% of cases, the etiology of the majority of sporadic HSCR is not as clear, appearing to arise from the combined cumulative effects of susceptibility loci at critical genes controlling the mechanisms of cell proliferation, differentiation and maturation. In addition, potential "modifying" associations exist with chromosome 2, 9, 20, 21 and 22, and we explore the importance of certain flanking genes of critical areas in the final phenotypic expression of HSCR.

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Section: Trisomy 21 and Hscrmentioning

confidence: 99%

The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

Moore

2006

Ped Surgery Int

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“…[1][2] The aganglionosis involves the entire colon, small intestine, duodenum and stomach. 3 Treatments for infants with total intestinal aganglionosis previously resulted in uniformly fatal outcomes, but recently extended myectomy-myotomy of the proximal jejunum (Ziegler) has achieved some prolonged survivors.…”

Section: T Otal Intestinal Aganglionosis Is An Extremelymentioning

confidence: 99%

Proximal jejunostomy with or without myectomy-myotomy modification in five infants with total intestinal aganglionosis: An experience with surgical treatments in a single institution

Shimotake

Tomiyama

et al. 2002

Journal of Pediatric Surgery

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“…The addition of a patch graft of colon to the bowel [66] gives better absorption and can be combined with endorectal tech niques [67]. A longitudinal myotomy has also been tried [68], The variety of techniques used in extensive disease involving large and small bowel emphasises the poor results and poor chance of long-term survival [7],…”

Section: Definitive Surgerymentioning

confidence: 99%

“…colonic and even small bowel involvement [4], Associated congenital anomalies may oc cur [5,6] e.g. trisomy 21 [7] and Waardenberg syndrome. Rarely is there an association with anorectal atresia [9,10].…”

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confidence: 99%

Hirschsprung’s Disease and Mimicking Conditions

Doig

1994

Dig Dis

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The pathophysiology and aetiology of Hirschsprung’s disease are still uncertain. The presentation varies with age. Various methods are used to make the diagnosis. Differing views of management are held both for emergency and definitive surgery, e.g. emergency colostomy or not, a covering colostomy or not for the definitive surgery, the type of operation used. The problems of diagnosis and treating diseases which mimic Hirschsprung’s disease are highlighted.

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Total intestinal aganglionosis

Cited by 66 publications

References 13 publications

The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

Proximal jejunostomy with or without myectomy-myotomy modification in five infants with total intestinal aganglionosis: An experience with surgical treatments in a single institution

Hirschsprung’s Disease and Mimicking Conditions

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