Anencephaly-associated aganglionosis

Mathew, Abraham

doi:10.1002/(sici)1096-8628(19981228)80:5<518::aid-ajmg16>3.0.co;2-m

Cited by 12 publications

(4 citation statements)

References 7 publications

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“…A number of reports include the cosegregation of HSCR with mental retardation and various dysmorphic features which include absence of the corpus callosum (isolated or in association with the Goldberg-Shprintzen [50] and Mowat-Wilson syndromes [51]). Anencephaly appears to be commonly associated and autopsies on 12 consecutive anencephalic newborns showed some degree of aganglionosis in all [52]. Dandy-Walker abnormalities are possibly associated with chromosome 9 variations [53] in a site associated with HSCR [53].…”

Section: Intestinal Atresiamentioning

confidence: 91%

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: Intestinal Atresiamentioning

confidence: 91%

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

Moore

2006

Ped Surgery Int

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“…Although diffi cult to quantify, anencephaly also appears to be not infrequently associated with intestinal aganglionosis. In one reported study, autopsies performed on 12 consecutive anencephalic newborns all showed some degree of aganglionosis (32) . In addition, Dandy-Walker abnormalities are possibly associated with chromosome 9 variations (33) , a site previously associated with HSCR (34) .…”

Section: Discussionmentioning

confidence: 99%

Hirschsprung’s disease in the neurologically challenged child

Moore

Tshifularo

2011

International Journal of Adolescent Medicine and Health

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Background:The association between Hirschsprung ' s disease (HSCR) and central nervous system (CNS) anomalies and syndromes is interesting because of similar developmental pathways. In addition to associated syndromes (e.g., Trisomy 21), these include brain anomalies, mental retardation and growth, ear and hearing deformities, eye hypoplasia, and craniofacial abnormalities, suggesting an neurocristopathy. This group of patients present with neurological challenges and have special challenges in management especially in the older child and adolescent. Methods: We retrospectively investigated 32 patients with signifi cant HSCR-associated neurological challenges out of a local database of 555 HSCRs (6 % ). Data were analyzed with details of neurological problem, treatment, complications, and mortality. Long-term outcome was assessed clinically. Results: A total of 32 neurologically challenged children were studied. The male/female ratio was 1.7:1 and all ethnic groups were affected. Abnormalities and syndromes included Down (n = 16) and probable Mowat-Wilson (n = 2) syndromes. Other abnormalities included ophthalmic problems (n = 8), CNS and brain abnormalities (n = 8). Mortality (22 % ) was mostly related to enterocolitis, particularly in Trisomy 21, ophthalmic problems (n = 8), CNS and brain abnormalities (n = 8). Follow-up age range was 1 -34 years (8 years, adolescence and beyond). The outcome was variable, concomitant medical problems were common. Several patients failed to achieve satisfactory continence. Conclusion: The association of neurological diffi culties in patients with HSCR presents many challenges. Management could involve the exploration and evaluation of alternative treatment choices.

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“…GOSHS presents various common characteristics with the Mowat-Wilson syndrome (MIM 235730), which will be discussed below in section 5. HSCR has also been connected with malformations of the nervous system: defects in the neural tube closure such as anencephaly (Mathew, 1998) and meningomyelocele (Merkler et al, 1985), as well as anomalies in neuronal migration and or cerebral dysgenesis (Cass, 1990), predominantly agenesis of corpus callosum (Sayed & Al-Alaigan, 1996). These phenomena have been regarded as alterations in the embryonic development of the anterior portion of the NC (Currie et al, 1986;Hurst et al, 1986).…”

Section: Hirschsprung Disease (Hscr) or Aganglionic Megacolon And Itsmentioning

confidence: 99%

Neuroimaging - Clinical Applications

Bright¹

2012

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Anencephaly-associated aganglionosis

Cited by 12 publications

References 7 publications

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

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

Hirschsprung’s disease in the neurologically challenged child

Neuroimaging - Clinical Applications

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