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Hirschsprung’s Disease and Intestinal Neuronal Dysplasias

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Textbook of Pediatric Gastroenterology, Hepatology and Nutrition

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Abstract

Hirschsprung’s disease (HD) is a congenital malformation characterized by the absence of parasympathetic intrinsic ganglion cells in the submucosal and myenteric plexus. 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. Symptoms usually start at birth with diagnosis made during the first 3 months of life, whereas <1% are diagnosed during adult life. Diagnosis is based on the histopathological demonstration of the total absence of ganglionic cells in the affected segment of the intestine. Surgery with resection of aganglionic bowel remains the criterion standard in the treatment of HD.

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. The main histological characteristic is the presence of submucosal hyperganglionosis. Despite many publications, diagnostic criteria are not yet standardized. 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. Therefore, most of the evidence suggests that the histological appearance of so-called IND is a normal variant related to age. Owing to the lack of sufficient normative data, IND remains a histological description with poorly established clinical significance.

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  1. Department of Translational Medical Sciences, Section of Pediatrics, University of Naples “Federico II”, Naples, Italy

    Massimo Martinelli & Annamaria Staiano

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  1. Massimo Martinelli
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  2. Annamaria Staiano
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Correspondence to Annamaria Staiano .

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  1. Section of Pediatric Gastroenterology Hepatology and Nutrition, University of Chicago, Chicago, IL, USA

    Stefano Guandalini

  2. Pediatric Liver, GI and Nutrition Center, Child Health, King’s College Hospital, London, UK

    Anil Dhawan

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Martinelli, M., Staiano, A. (2022). Hirschsprung’s Disease and Intestinal Neuronal Dysplasias. In: Guandalini, S., Dhawan, A. (eds) Textbook of Pediatric Gastroenterology, Hepatology and Nutrition. Springer, Cham. https://doi.org/10.1007/978-3-030-80068-0_22

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