RESUMEN
PURPOSE: Intestinal dysganglionosis are a group of anomalies of the enteric nervous system that constitute infrequent but severe forms of constipation. Histochemical stainings are the gold standard diagnostic procedure for intestinal dysganglionosis. This study describes our experience with histochemistry in a large series of patients. METHODS: Between 1977 and 2010, 1,589 biopsies from children with persistent chronic constipation were studied. The specimens were snap frozen, sectioned and stained with acetylcholinesterase (AChE), acetylcholinesterase counterstained with hematoxilin and succinic dehydrogenase (SDH) histochemical stainings. RESULTS: Among the 1,589 biopsies, 946 (59.5%) were rectal biopsies, 242 (15.2%) were internal sphincter biopsies, 346 (21.8%) were intestinal mapping studies and 42 (2.7%) of them were colon specimens from surgical resections. From the rectal biopsy group, 544 (57.5%) patients were reported as normal. Hirschsprung disease was found in 163 (17.2%) patients with a median age at diagnosis of 8 months and a male to female ratio of 3:1. Intestinal neuronal dysplasia was found in 162 (17.2%) patients, hypoganglionosis in 3 (0.3%) of them and ganglioneuromatosis in 1 (0.1%). In 73 (7.7%) patients, the biopsy was not conclusive for different reasons. 34 out of the 42 resected colon specimens were Hirschsprung disease. Intestinal neuronal dysplasia was found in the proximal segment of the aganglionic bowel in 15 out of 34 (44%) patients. All the aganglionic resected colon specimens had a previous aganglionic rectal biopsy. There were no false positive results in this group. CONCLUSIONS: Histochemical stainings continue to be the gold standard in the diagnosis of intestinal dysganglionosis. The combination of two histochemical staining techniques provides a high level of accuracy in the diagnosis of intestinal dysganglionosis.
Asunto(s)
Estreñimiento/metabolismo , Sistema Nervioso Entérico/anomalías , Enfermedades Intestinales/diagnóstico , Recto/patología , Niño , Preescolar , Enfermedad Crónica , Colon/metabolismo , Colon/patología , Estreñimiento/patología , Sistema Nervioso Entérico/patología , Femenino , Enfermedad de Hirschsprung/diagnóstico , Humanos , Hiperplasia , Inmunohistoquímica , Lactante , Masculino , Recto/metabolismo , Plexo Submucoso/patologíaRESUMEN
PURPOSE: The aim of this study was to determine the presence of specific clinical symptoms in intestinal neuronal dysplasia (IND) and whether it correlates to the severity of histopathologic findings. METHODS: A group of 44 severe IND and a group of 16 mild IND patients diagnosed by means of a histochemical rectal biopsy were compared with a group of 37 patients with functional constipation (FC) with normal rectal biopsy results. RESULTS: Patients with severe IND began their symptoms at an earlier age than those with mild IND and FC (5.2 +/- 112 months v 17.5 +/- 23 months and 22.5 +/- 21.8 months, respectively; P <.001). The presence of intestinal obstruction symptoms was more frequent in severe IND patients than in mild IND and FC patients (45.5% v 18.8% v 2.7%, respectively; P <.001). The presence of a fecaloma and soiling were less frequent in the severe IND group than in mild IND and FC groups (20.5% v 56.3% v 59.5%, respectively; P <.001 and 15.9% v 31.3% v 59.5%, respectively; P <.001). Barium enema results showed a lower incidence of rectosigmoid distension in severe IND if compared with mild IND and FC groups (45.5% v 57.1% v 96.9%; P <.001). Internal sphincter relaxation was absent frequently in the severe IND group compared with the FC group (47% v 26.9%, respectively; P <.05). CONCLUSIONS: Intestinal neuronal dysplasia is a distinct histopathologic and clinical entity. Its clinical, radiologic, and manometric presentation correlates to the severity of histochemical findings.