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  • Title: Hirschsprung's disease and its allied disorders in adults' histological and clinical studies.
    Author: Tomita R, Ikeda T, Fujisaki S, Tanjoh K, Munakata K.
    Journal: Hepatogastroenterology; 2003; 50(52):1050-3. PubMed ID: 12845979.
    Abstract:
    BACKGROUND/AIMS: To accurately diagnose for Hirschsprung's disease and its allied disorders in adults, we studied the histology and clinical future of 12 adult patients with prolonged, refractory constipation with abdominal distension and pain. METHODOLOGY: Based on clinical signs and symptoms noted on admission, all of 114 patients (12 males and 104 females, aged 20-74 years with a mean age of 56.6 years) were suspected to have refractory chronic constipation. To obtain an accurate diagnosis, we performed rectal biopsy. Tissue samples were frozen and 12-micron sections were stained with hematoxylin-eosin, with acetylcholinesterase by the method of Karnovsky and Roots, and with NADPH-diaphorase by the modified Scherer-Singler's method. RESULTS: 1) Histological examinations; On the basis of histological studies (rectal biopsies), 8 were diagnosed with hypoganglionosis, 2 with Hirschsprung's disease, and 2 with intestinal neuronal dysplasia. It was possible to diagnose Hirschsprung's disease and intestinal neuronal dysplasia using rectal mucosal biopsies with hematoxylin-eosin and acetylcholinesterase staining. However, accurate diagnosis of hypoganglionosis could be made only through examination of the myenteric plexus by NADPH-diaphorase staining in full-thickness rectal specimens. 2) Clinical symptoms; All patients had refractory chronic constipation with abdominal pain and distension. Two patients with Hirschsprung's disease had constipation neonatally. Of the 8 patients with hypoganglionosis, one had constipation neonatally at sucking age, 2 as infants, 2 at school age, and 2 after operation as adults. Two patients with intestinal neuronal dysplasia had constipation while infants. Onset of signs and symptoms before school age was significantly revealed than that found after operation as adults (P < 0.01). Frequency of bowel movements was 1/7-10 days for Hirschsprung's disease, 1/7-14 days for hypoganglionosis, and 1/7-30 days for intestinal neuronal dysplasia. CONCLUSIONS: We were able obtain accurate histological diagnosis of patients with Hirschsprung's disease and intestinal neuronal dysplasia by rectal mucosal biopsy with hematoxylin-eosin and acetylcholinesterase staining. Patients with hypoganglionosis obtained accurate histological diagnosis by full-thickness rectal biopsy with NADPH-diaphorase staining. Onset of symptoms of disease occurred predominantly before school age. In all of the patients, bowel movements occurred less than once per week.
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