Neuronal intestinal dysplasia: clinical experience in Italian patients.
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.
Divisione e Cattedra di Chirurgia Pediatrica, Istituto Giannina Gaslini, Genoa, Italy.
G
G
Martucciello
P E
PE
Caffarena
M
M
Lerone
G
G
Mattioli
A
A
Barabino
G
G
Bisio
V
V
Jasonni
D000110:Acetylcholinesterase / Q000378:metabolism; D015415:Biomarkers; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003106:Colon / Q000294:innervation / Q000601:surgery; D005260:Female; D006627:Hirschsprung Disease / Q000145:classification / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007558:Italy; D008297:Male; D009197:Myenteric Plexus / Q000473:pathology*; D009283:Naphthol AS D Esterase / Q000378:metabolism; D000090063:Proto-Oncogene Mas; D012007:Rectum / Q000294:innervation / Q000601:surgery; D009418:S100 Proteins / Q000378:metabolism; D013368:Submucous Plexus / Q000473:pathology*
D015415:Biomarkers; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D009418:S100 Proteins; D009283:Naphthol AS D Esterase; D000110:Acetylcholinesterase