Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

@article{Martucciello2004TotalCA,
  title={Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10},
  author={Giuseppe Martucciello and Maria Patrizia Bicocchi and P. Dodero and Margherita Lerone and M. Silengo Cirillo and Aldamaria Puliti and Giorgio Gimelli and Giovanni Romeo and Vincenzo Jasonni},
  journal={Pediatric Surgery International},
  year={2004},
  volume={7},
  pages={308-310}
}
We present the case of a patient with total colonic aganglionosis and small-bowel involvement (TCSA) associated with a 46, XX, del 10 (q11.21 q21.2) karyotype. Seromuscular biopsies were taken from the rectum, colon, cecum, and terminal ileum. The alpha-naphthylesterase technique was applied to demonstrate intestinal ganglia of the myenteric plexus. The patient did not have associated anomalies. The association of TCSA with 10 long-arm interstitial deletion has not been reported in the… 
The Molecular Genetics of Hirschsprung’s Disease
TLDR
The variable extent of aganglionosis correlates with severity of the disease, leading to a classification of HSCR into short- and long-segment phenotypes, which can extend below the rectosigmoid junction, or up to the whole bowel.
Hirschsprung disease, associated syndromes and genetics: a review
TLDR
Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment, which stands as a model for genetic disorders with complex patterns of inheritance.
Hirschsprung’s Disease: A Historical Perspective – 1691–2018
TLDR
Development of more sophisticated diagnostic tools – barium enema, anorectal manometry, and acetylcholinesterase staining of mucosal biopsies – allowed earlier diagnosis of children with Hirschsprung’s disease.
Hirschsprung's disease as a neurochristopathy
TLDR
A critical review of the results of molecular-genetic studies of intestinal aganglionosis carried out from 1992 to date focuses on the possible clinical impact of the identification ofRET as a causative gene for HD.
Many faces of Hirschsprung's disease.
TLDR
It is recommended that patients, including newborns, with HSCR undergo a careful assessment by a clinician trained in dysmorphology, as the recurrence risk varies from 4 % to up to 50 % depending on whether it is non-syndromic or part of a specific syndrome.
Total colonic aganglionosis and Hirschsprung’s disease: a review
  • S. Moore
  • Medicine
    Pediatric Surgery International
  • 2014
TLDR
This study reviews what isknown about the clinical, radiological and histopathologic differences between TCA and the more frequently encountered recto-sigmoid and correlates them with what is currently known about the genetic and molecular biologic background to find possible pathogenetic mechanisms.
Total colonic aganglionosis in Hirschsprung disease.
  • S. Moore
  • Medicine
    Seminars in pediatric surgery
  • 2012
TLDR
Clinically, TCA appears to represent a different spectrum of disease in terms of presentation and difficulties that may be experienced in diagnosis, suggesting a different pathophysiology from the more common forms of HSCR.
Genetic basis of Hirschsprung’s disease
TLDR
This review will focus on the genes known to be involved in HSCR pathology, how they interact, and on how technology advances are being employed to uncover the pathological processes underlying this disease.
Molecular-genetic analysis of Hirschsprung's disease in South Africa
TLDR
It is demonstrated that all the potential disease-related mutations identified in South African patients with sporadic HSCR occur in the RET gene.
...
...

References

SHOWING 1-10 OF 25 REFERENCES
Aganglionic megacolon, pheochromocytoma, megaloureter, and neurofibroma; co-occurrence of several neural abnormalities.
TLDR
This is a report of a patient with multiple neural abnormalities, and aspects of the combination in this instance may reflect the underlying embryological error which gives rise to aganglionic megacolon.
Coexistent neuroblastoma and Hirschsprung's disease —Another manifestation of the neurocristopathy?
TLDR
Another manifestation — coexistent multiple neuroblastomas and Hirschsprung's disease in a newborn is reported — yet another manifestation — at the extremes of a spectrum of neural crest developmental pathology.
Neuronale intestinale DysplasieEine kritische 10-Jahres-Analyse klinischer und bioptischer Diagnostik
TLDR
Two clinically and bioptically different types of intestinal dysplasia can be distinguished and a third form is a combination of both diseases.
Radiological findings in total aganglionosis coli
TLDR
The radiological findings in 13 patients with total aganglionosis coli were reviewed, and barium enema results covered the entire spectrum of findings which can be encountered in the neonate and young infant with bowel obstruction.
Hirschsprung's disease: alpha-naphthylesterase activity for enzyme-histochemical evaluation of the extent of the aganglionic segment during surgery
TLDR
The authors consider this histotopochemical alpha-naphthylesterase reaction a reliable, quick, simple, and economical method for intraoperative evaluation of the length of the aganglionic segment in Hischsprung's disease.
A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10
TLDR
This work has reported linkage between the MEN2A locus and the interstitial retinol-binding protein gene, which is located on chromosome 10p11.2-q11.3, and Simpson et al.2 recently reported preliminary evidence for linkage Between the DNA probe p9-12A on chromosomes 10 and MEN2a.
...
...