Neuronal Intestinal Dysplasia: Clinical Experience in Italian Patients

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. Male:female ratio was 9:3. 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.

Laparoscopic extensive colectomy with transanal Soave pull-through for intestinal neuronal dysplasia in 17 children

“…Although there is controversy over the surgical treatment in patients with IND, [11] aggressive surgical management should be adopted because IND has an unpredictable clinical course, and that its management should be dependent on the conditions of each patient.…”

Full-thickness biopsy findings in chronic intestinal pseudo-obstruction and enteric dysmotility

“…The criteria for neuronal intestinal dysplasia were: presence of large submucosal ganglia containing >11 neurons/ganglion; presence of “displaced” neurons within the lamina propria and within the musculoaris mucosae; and increased numbers of mucosal nerve fibres as shown by immunohistochemistry 17 18…”

Back to the drawing board

“…Csury and Pena [4] reviewed 25 publications and also concluded that there was no correlation between the histological criteria for IND B and the clinical outcome. Several publications disagree on how common IND B is [6,19,26] and this may indicate that this disease has not yet been properly identified or defined.…”