Neuronal intestinal dysplasia: clinical experience in Italian patients.
Eur J Pediatr Surg
; 4(5): 287-92, 1994 Oct.
Article
en En
| MEDLINE
| ID: mdl-7857885
ABSTRACT
The authors present a review of 431 children biopsied and studied with the following histochemical and immunohistochemical techniques 1) acetylcholinesterase activity; 2) alphanaphthylesterase activity; 3) S-100 protein immunohistochemical technique; 4) glyoxylic acid method. Two hundred forty-eight patients of our series presented different forms of dysganglionosis, 12 of them (4.8%) presenting neuronal intestinal dysplasia type B. In 7 cases, NID type B was diffuse, whereas in 5 recto-colonic NID type B was confined to the splenic flexure. Malefemale ratio was 93. Familial recurrence was present in 2 of the 12 cases of our series, affected by severe neuronal intestinal dysplasia extended to the small intestine, associated with intestinal malrotation and short bowel syndrome. Four of the 7 cases of diffuse NID type B and 2 of the 5 cases of rectocolonic NID type B were surgically treated. Three patients with diffuse NID died from sepsis within the 2nd year of life. This study confirms that NID type B is a form of dysganglionosis which can be diagnosed in a Mediterranean country if histochemical techniques are applied in the study of a large series of constipated and pseudo-Hirschsprung patients. From a pathogenetic point of view, the authors compared the histochemical findings of biopsies from their series of NID patients with those of recto-colonic biopsies from patients with MEN II B syndrome. The similarity of GI symptoms in MEN II B and NID pediatric patients suggests that the two disorders could be the result of mutations affecting the same domain of the RET proto-oncogene.
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Base de datos:
MEDLINE
Asunto principal:
Plexo Submucoso
/
Enfermedad de Hirschsprung
/
Plexo Mientérico
País/Región como asunto:
Europa
Idioma:
En
Revista:
Eur J Pediatr Surg
Asunto de la revista:
PEDIATRIA
Año:
1994
Tipo del documento:
Article