![]() ![]() Romanska HM, Bishop AE, Brereton RJ, Spitz L, Polak JM. An appraisal of histochemically demonstrated acetylcholinesterase activity in suction rectal biopsy specimens as an aid to diagnosis. Lack of neuronal nitric oxide synthase in nerve fibers of aganglionic intestine: a clue to Hirschsprung’s disease. Larsson LT, Shen Z, Ekbland E, Sundler F, Alm P, Ke A. Esophageal motility in children with Hirschsprung’s disease. Staiano A, Corazziari E, Andreotti MR, Clouse RE. A genetic study of Hirschsprung’s disease. From neural crest to bowel: development of the enteric nervous system. What is new about the genetic background of Hirschsprung disease? Clin Genet. Luzón-Toro B, Villalba-Benito L, Torroglosa A, Fernández RM, Antiñolo G, Borrego S. Hirschsprung disease – integrating basic science and clinical medicine to improve outcomes. Owing to the lack of sufficient normative data, IND remains a histological description with poorly established clinical significance. Therefore, most of the evidence suggests that the histological appearance of so-called IND is a normal variant related to age. In addition, submucosal hyperganglionosis may reflect a normal age-related phenomenon due to the fact that it has been reported that most of the patients with submucosal IND have a spontaneous clinical improvement which is sometimes associated with histological normalization. Despite many publications, diagnostic criteria are not yet standardized. The main histological characteristic is the presence of submucosal hyperganglionosis. Intestinal neuronal dysplasia (IND) is now considered as a morphologic phenotype affecting the submucosal plexus of the intestine, either as an isolated form or with known neuropathies such as HD. Surgery with resection of aganglionic bowel remains the criterion standard in the treatment of HD. Diagnosis is based on the histopathological demonstration of the total absence of ganglionic cells in the affected segment of the intestine. Symptoms usually start at birth with diagnosis made during the first 3 months of life, whereas <1% are diagnosed during adult life. HD occurs in approximately 1 of each 5000 live births and with a male predominance of 4:1, as an isolated trait in 70% of patients, and it is associated with chromosomal abnormality in 12% of cases. Hirschsprung’s disease (HD) is a congenital malformation characterized by the absence of parasympathetic intrinsic ganglion cells in the submucosal and myenteric plexus. ![]()
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