Torre_1998_Minerva.Gastroenterol.Dietol_44_179

BACKGROUND: Intestinal neuronal dysplasia (IND) belongs to the group of dysganglionosis. It may occur as part of a syndrome of early chronic constipation, neonatal intestinal occlusion, chronic intestinal pseudo obstruction. The aim of this study was to report the cases examined by the Istituto G. Gaslini in Genoa and to discuss the numerous aspects of this disease which are still unclear.
METHODS: 787 children were included in the study and underwent biopsy between 1984 and 1997. Rectal biopsies were obtained by suction or in some cases during surgery and were treated using enzymohistochemical techniques, such as acetylcholinesterase, rapid acetylcholinesterase and alpha-naphthylesterase.
RESULTS: 574 children were found to be suffering from innervative alterations: 348 (60.6%) presented isolated Hirschsprung's disease, IND was found in 83 (14.5%), in 8 of the latter in association with other dysganglionosis. IND was accompanied by other diseases in 40 cases (48.2%). Over the past three years (since October 1994) a total of 164 dysganglionosis have been diagnosed, including 55 cases of aganglia. During this period IND was the most frequently observed alteration and affected 61 children.
CONCLUSIONS: Rectal biopsy is the essential diagnostic test for the diagnosis of intestinal dysganglionosis. Biopsies are performed in outpatient clinics without sedation, and do not represent an invasive procedure for the young patients. Radiological and manometric examinations cannot provide reliable data for the diagnosis of IND. In our experience, the incidence of IND over the past few years has increased and its diagnosis is essential for correct treatment which is not surgical in the majority of cases. The real incidence of IND and its pathogenesis still need to be clarified.