DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20195737

A prospective observational study of associated anomalies in hirschsprung’s disease

Monali Madhukar Patole, Mandar Madhukar Patole, Subhasish Paul

Abstract


Background: Hirschsprung’s Disease (HSCR) is the commonest congenital gut motility disorder and is characterized by the absence of ganglion cells in a variable length of the distal gut. According to literature , HRSCD may be associated with a chromosomal abnormality or other congenital anomalies in approximately 20% of cases HSCR appeared to be a multifactorial malformation with low, sex dependent penetrance and variable expression according to the length of the a ganglionic segment, suggesting the involvement of one or more gene (s) with low penetrance. So far, eight genes have been found to be involved in HSCR. This frequent congenital malformation now stands as a model for genetic disorders with complex patterns of inheritance. The objective of this study was to collect and study personal and family history and any information regarding known associated anomalies in patients diagnosed as Hirschsprung's disease.

Methods: Here author present a series of 89 consecutive HSCR patients who were admitted or attended the Pediatric Surgery OPD of in a tertiary care Government medical college, who were evaluated for associated malformations with the help of available non-invasive investigation.

Results: Congenital heart diseases and Down’s syndrome were the two most common associated anomalies. Genitourinary anomalies, Limb anomalies and central nervous system anomalies were other associated anomalies. Conclusions: This study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as CNS anomalies. Based on the results of this study, in addition to meticulous general examination author suggest performing cardiologic assessment in patients diagnosed with Hirschsprung’s disease based on clinical features and according to the standards of care adopted for the general population.


Keywords


Anterior sacral meningocele, Associated congenital anomalies, Cardiovascular anomalies, Down’s syndrome, Genitourinary anomalies, Hirschsprung’s disease

Full Text:

PDF

References


Dasgupta R, Langer JC. Hirschsprung disease: CurrProblSurg Curr Probl Surg. 2004;41(12):942-88

Whitehouse FR, Kernohan JW. Myenteric plexus in congenital megacolon: study of eleven cases. Archives Int Med. 1948;82(1):75-111.

Kenny S E, Tam P K H, Garcia-Barcelo M, Phil M. Hirschprung’s disease. Semin Paediatr Surg. 2010;19(3):194-200.

Panza E, Knowles CH, Graziano C, Thapar N, Burns AJ, Seri M, et al. Genetics of human enteric neuropathies. Progress Neurobiol. 2012;96(2):176-89.

Das K, Alladi A, Kini U, Babu MK, Cruz AJ. Hirschsprung’s disease, associated rare congenital anomalies. Ind J Pediatr. 2001 ;68(9):835-7.

Bolande RP. The neurocristopathies: a unifying concept of disease arising in neural crest maldevelopment. Human Pathol. 1974;5(4):409-29.

Badner JA, Sieber WK, Garver KL, Chakravarti AR. A genetic study of Hirschsprung disease. Am J Human Genetics.1990;46(3):568.

Prato AP, Rossi V, Mosconi M, Holm C, Lantieri F, Griseri P, et al. A prospective observational study of associated anomalies in Hirschsprung’s disease. Orphanet J Rare Dis. 2013;8(1):184.

Passarge E. The genetics of Hirschsprung's disease: evidence for heterogeneous etiology and a study of sixty-three families. New Engl J Med. 1967;276(3):138-43.

Moore SW. The contribution of associated congenital anomalies in understanding Hirschsprung’s disease. Pediatr Surg Intern. 2006;22(4):305-15.

Tuo G, Pini Prato A, Derchi M, Mosconi M, Mattioli G, Marasini M. Hirschsprung’s disease and associated congenital heart defects: a prospective observational study from a single institution. Frontiers Pediatr. 2014;2:99.

Suita S, Taguchi T, Ieiri S, Nakatsuji T. Hirschsprung's disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years. J Pediatr Surg. 2005;40(1):197-202.

Scholl AM, Kirby ML. Signals controlling neural crest contributions to the heart. Wiley Interdisciplinary Reviews: Systems Biol Med. 2009;1(2):220-7.

Santos HE, Mateus JO, Leal MJ. Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. J Med Genetics. 1988;25(3):204-5.

Laurence KM, Prosser R, Rocker I, Pearson JF, Richard C. Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy. J Med Genetics. 1975;12(4):334-8.

Al-Gazali LI, Donnai D, Mueller RF. Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?. J Med Genetics. 1988;25(11):758-61.

Huang T, Elias ER, Mulliken JB, Kirse DJ, Holmes LB. A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs. Genetics Med. 1999;1(3):104.

McLone DG. Normal and abnormal early development of the nervous system. Pediatr Neurosurg: Surg Developing Nervous System. 1994:3-9.

Neilson IR, Yazbeck S. Ultra short Hirschsprung’s disease:myth or reality. J Pediatr Surg. 1990;25:(11):35-8.

Torfs C. An epidemiological study of Hirschsprung'disease in a multiracial California population. In Third International Meeting: Hirschsprung's disease and related neurocristophaties Evian, France. 1998; 2004.

Badner JA, Sieber WK, Garver KL, Chakravarti AR. A genetic study of Hirschsprung disease. Am J Human Genetics. 1990;46(3):568.

Ikeda K, Goto S. Additional anomalies in Hirschsprung's disease: an analysis based on the nationwide survey in Japan. Zeitschrift für Kinderchirurgie. 1986;41(05):279-81.

Whalen TV Jr, Asch MJ. Report of two patients with hypertrophic pyloric stenosis and Hirschsprung’s disease. Coincident or common etiology? Am Surg. 1985;51: 480-1.

Hirschsprung’s disease and allied Disorders. 3rd ed. Prem Puri, AL Holschneider. 2019