© Borgis - New Medicine 1/2003, s. 5-7
Intestinal neuronal dysplasia
Department of Paediatric Diabetology and Birth Defects, Medical University of Warsaw
Head of the Department: Lech Korniszewski, MD, PhD
Report of a case of a 5-month-old infant affected with intestinal neuronal dysplasia, together with a review of recent literature.
Intestinal neuronal dysplasia (IND) is a clinical condition resembling Hirschsprung´s disease (HSCR). It was first described by Meier-Ruge in 1971 (14). It is a complex alteration of the enteric nervous system that may involve the rectum, colon or the whole intestine. The characteristic histological features of IND include hyperplasia of the submucosal and myenteric plexuses, giant ganglia, ectopic ganglion cells and increased acetylcholinesterase (AChE) activity in the lamina propria and around submucosal blood vessels (19). IND may exist as an isolated condition, or in association with Hirschsprung´s disease reported in 10% to 49% of cases (18). The frequency of IND ranges from 1/4000 to 1/60 000 live births (12).
J.K. is the first and only child of young, healthy unconsanguineous parents. She was born at term after an uneventful pregnancy, passing her first stool within 48hrs of birth. She was admitted to hospital at 5 months because of a history of chronic constipation (she passed a hard stool with difficulty, every 4-5 days), loss of appetite, vomiting, and failure to thrive. She weighed 6700 g (10th percentile). There was a history of constipation since birth but in the first weeks of life she passed her stools without effort, her appetite was good and she gained weight. From the 3rd month the symp-toms started to aggravate. Clinical examination revealed significant abdominal distension with palpable faeces-filled loops of bowel. There was presence of stool in the ampulla on rectal examination. Because of the suspicion of Hirschsprung´s disease, we performed a barium enema which showed gross faecal loading of the sigmoid colon and the rectum and distended colon. There was marked retention of barium on a 24 hr. delayed film. No transition zone was noted. Rectal manometry revealed a normal response. Finally, a full-thickness excision biopsy was performed, taken at 3cm above the dentate line. This revealed hyperganglionosis in the submucous layer with giant ganglia and ectopic ganglia in the muscular layer. Neither increased AChE activity nor large numbers of hypertrophied nerve bundles were noted. A diagnosis of intestinal neuronal dysplasia was proposed. She was started on saline enemas with liquid paraffin, prokinetics (cisaprid) and lactulose, with good effect. Her appetite returned to normal, she started to gain weight, passing her stools without effort every one or two days. She remains under our follow-up care in the outpatient clinic.
The collective expression ”malformations of the enteric nervous system” covers very different forms of developmental disturbances of intrinsic intestinal innervation. Whereas the clinical course of Hirschs-prung´s disease is well known and references are found for its genetic cause, commonly available information on intestinal neuronal dysplasia (IND) is very sparse. IND is a disease of the enteric nervous system, which clinically resembles Hirschsprung´s disease. It may involve the rectum, colon, or the whole intestine. Ten years after its first description in 1971 by Meier-Ruge (14), it was divided into two clinically and histologically distinct subtypes (5). Type A that occurs in less than 5% of cases is characterized by congenital aplasia or hypoplasia of the sympathetic innervation, and presents acutely in the neonatal period with intestinal obstruction, diarrhoea, and bloody stools. Type B in its clinical picture resembles Hirschsprung´s disease, charac-terised by malformation of the parasympathetic submucous and myenteric plexuses. IND type A is extremely rare. The incidences of type B reported range from 1:4000 to 1:60 000 live births. In general the incidence of isolated IND ranges from 0.3% to 40% of all suction rectal biopsies in different centres (17). This difficulty in exact estimation of the frequency of IND results from the considerable confusion regarding the essential diagnostic criteria. Diagnostic difficulties centre on the wide variations in the literature in respect of diagnostic criteria, biopsy procedure, staining techni-ques and patient´s age. There is also a high interobserver variation with regard to the different morphological features and final diagnosis of IND. The high frequency of histological ”abnormalities” that are age-dependent (physiological presence of hyperganglionosis in neonates under 4weeks) may represent a normal variant of postnatal development rather than a pathological process (4, 11).
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