Syndromic and Malformation Association in Hirschsprung’s Disease: A Case Series | Chapter 5 | An Overview of Disease and Health Research Vol. 1

Hirschsprung’s disease is a genetic disorder characterised by the absence of ganglion cells in different lengths of the intestine. It is one of the common causes of intestinal obstruction in neonates. The incidence of the disease ranges from 1 in 5000 to 1 in 10,000 across the world, but the Asian population has a slightly higher incidence of 2.8 in 10000. The vulnerability to Hirschsprung’s disease occurs due to the alteration of multiple genes which affect the signalling pathway of the RET receptor tyrosine kinase. In 70% of cases, Hirschsprung’s disease occurs as an isolated trait, and congenital anomalies are seen in 18% of cases, and in those patients, monogenic syndromes can also be seen. Malformation and neoplasm can be seen with this disease. Four cases of syndromic Hirschsprung’s disease from January 2017 to January 2020 in a Tertiary care hospital were treated. The biopsy specimens from spastic segment and colostomy or ileostomy sites were sent for evaluation of ganglion cells. Two different syndromes and one associated malformation and neoplasm were detected in patients of Hirschsprung’s disease during this 3-year case study. Chromosomal abnormality is seen in patients with Hirschsprung’s disease. The association of Hirschsprung’s disease and a variety of syndromes is rare. The incidence of Shah Waardenburg syndrome is 4 in 1 million. Moreover, approximately 1–2% of children with Down’s syndrome develop Hirschsprung’s disease, and 10% of patients with Hirschsprung’s disease have Down’s syndrome. As a result, Down’s syndrome accentuates the risk of developing the disease 50–100 fold compared to the general population (Heuckroth, 2015). Genetic mutation and somatic mutation play a role in the development of Hirschsprung’s disease in children. Clinical suspicion of Down’s syndrome and Shah Waardenburg Syndrome is the main clue to the diagnosis. In most cases of Shah Waardenburg Syndrome, total colonic aganglionosis was seen. In all these syndromic cases, counselling of the parents and genetic sequencing of patients and parents are desirable.

 

Author (s) Details

Biswanath Mukhopadhyay
Department of Pediatric Surgery, Apollo Multispeciality Hospital, Kolkata, West Bengal, India.

 

Mandira Seal
Department of Pathology, IPGME and R, Kolkata, West Bengal, India.

 

Chhanda Das
NRS Medical College, Kolkata, India.

 

Madhumita Mukhopadhyay
Pathology, JISMSR, Howrah and IPGMER, Kolkata, West Bengal, India.

 

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