Histological studies on Hirschsprung's disease and its allied disorders in childhood.

BACKGROUND/AIMS: To obtain accurate diagnosis for Hirschsprung's disease (HD) and its allied disorders such as hypoganglionosis (Hypo) and intestinal neuronal dysplasia (IND) in childhood patients with chronic constipation, we studied the histology of childhood patients with refractory constipation accompanied by abdominal distension and pain. METHODOLOGY: Based on clinical signs and symptoms noted on admission, all of 109 patients (60 males and 49 females, aged 2-15 years with a mean age of 9.8 years) were suspected to have chronic refractory constipation. To obtain accurate histological diagnosis in childhood patients with chronic refractory constipation, we performed rectal biopsies on these patients. Tissue samples were frozen and 12-microm sections were stained with acetylcholinesterase (AChE) by the method of Karnovsky and Roots, and with nicotinamide adenine dinucleotide phosphate (NADPH)-diaphorase by the modified Scherer-Singler's method. RESULTS: On the basis of histological studies using rectal biopsies, 20 cases were diagnosed with Hypo, 5 with HD, 2 with intestinal neuronal dysplasia (IND), and 82 with normal findings. The incidence of normal cases was significantly greater than that of allied disorders of HD including both Hypo and IND (P<0.0001). The incidence of Hypo was also significantly greater than that of Hypo and IND (P<0.01, P<0.0001, respectively). Both HD and IND could be diagnosed by rectal mucosal biopsies with AChE staining. However, accurate diagnosis of Hypo could be made only through examination of the submucosal and myenteric plexuses by NADPH-diaphorase staining in full-thickness rectal specimens. CONCLUSIONS: We were able to obtain accurate diagnosis of childhood patients with HD and IND by rectal mucosal biopsy with AChE staining. On the other hand, accurate histological diagnosis in patients with Hypo could also be obtained by NADPH-diaphorase staining in full-thickness rectal specimens. That is to say, it is easier for the investigator to detect the cholinergic fiber and ganglion cell in the gut wall using NADPH-diaphorase staining than by using AChE staining.

Hirschsprung's disease and its allied disorders in adults' histological and clinical studies.

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.