DOI: http://dx.doi.org/10.18203/2349-2902.isj20191284

Sigmoid volvulus in Bardet-Biedl syndrome: serendipity or a new association?

Ashwath Narayan Ramji

Abstract


Bardet-Biedl syndrome is a rare ciliopathy with a wide array of clinical features, including congenital blindness, obesity, neuroendocrine disturbance, hypogonadism and renal dysfunction. The association of Hirschsprung’s disease with Bardet-Biedl syndrome has been published earlier, however, there is no literature regarding patients with Bardet-Biedl syndrome presenting later in life due to complications associated with Hirschsprung’s disease. Bardet-Biedl Syndrome is exceedingly rare, with only around 15 case reports published from India. Here we present the case of a 55-year-old male patient with Bardet-Biedl syndrome who presented with intestinal obstruction, raising the question as to whether his emergency presentation was a complication of his flawed genotype or serendipity.


Keywords


Bardet-Biedl syndrome, Hirschprung’s disease, Sigmoid volvulus

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References


Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36(6):437-46.

Kumar S, Mahajan BB, Mittal J. Bardet-Biedl syndrome: A rare case report from North India. Indian J Dermatol Venereol Leprol. 2012;78:228.

Klein D, Ammann F. The syndrome of Laurence-Moon- Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci. 1969;9:479-513.

Young J. Approach to the Male Patient with Congenital Hypogonadotropic Hypogonadism. J Clin Endocrinol Metabol. 2012;97(3):707–18.

Cherian MP, Al-Sanna'a NA, Al-Mulhim SI. Hirschsprung's disease in Arab siblings with Bardet-Biedl syndrome. J Pediatr Surg. 2008;43(6):1213-7.

Radetti G, Frick R , Pasquino B , Mengarda G, Savage MO. Hypothalamic-pituitary dysfunction and Hirschsprung’s disease in the Bardet-Biedl syndrome. Helv Paediatr Acta. 1988;43:249–52.

Islek I, Kucukoduk S, Erkan D. Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease. Clin Dysmorphol. 1996;5:271–3.

Maeda T, Okazaki K, Tachibana M. A case of Hirschsprung’s disease associated with Laurence-Moon-Bardet-Biedl syndrome. JPN J Gastroenterol. 1984;81:912–6.

Lorda-Sanchez I, Ayuso C, Ibanez A. Situs inversus and Hirschsprung’s disease: two uncommon manifestations in Bardet-Biedl syndrome. Am J Med Genet. 2000;90:80–1.

Amiel J, De Pontual L, Thomas S, Zaghloul N, McGaughey DM, Dollfus H, et al. The association of Bardet-Biedl Syndrome and Hirschsprung disease highlights the role of the primary cilium in ENS development. Neurogastroenterol Motility. 2009;21.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, et al. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet. 2012;49(8):502-12.

Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranan J, Merdes A, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007;129:1201-13.

Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, et al. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study. Am J Med Genet. 2005;132:352-6.

Khoo EYH, Mansell P, Zaitoun AM, Risley J, Acheson AG, El-Sheikh M. Alström Syndrome and Cecal Volvulus in 2 Siblings. Am J Med Sci. 2009;337(5):383–5.

Valsdottir E, Marks JH. Volvulus: small bowel and colon. Clin Colon Rectal Surg. 2008;21(2):91-3.

Wertkin MG, Aufses AH Jr. Management of volvulus of the colon. Dis Colon Rectum. 1978;21(1):40–5.