Abstract
Mutations in the ALMS1 gene have been found to be causative for Alstrom syndrome, a rare autosomal recessive disease characterized by multiorgan dysfunction. The predominat features are blindness due to congenital retinal dystrophy beginning in infancy, sensorineural hearing loss, insulin resistance, and obesity. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Hereby, we presented two siblings who admitted to our clinic with the complaint of nystagmus, photophobia, and obesity and considered as Alstrom syndrome. Hypertrigliseridemia, insulin resistance, and hepatic fibrosis have also been detected. Alstrom syndrome should be kept in mind in obese children with additional findings
Keywords: Alstrom syndrome, obesity
References
- Alstrom CH, Hallgren B, Nilsson LB, Asander H. Retinal degene- ration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence –Moon–Bardet –Biedl syndrome: a clinical, endocri- nological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl 1959; 129:1-35.
- Marshall JD, Beck S, Maffei P, Naggert JK. Alström Syndrome. Eur J Hum Genet 2007;15(12):1193-202.
- Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, et al. Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis 2007;2:49.
- Minton JA, Owen KR, Ricketts CJ, Crabtree N, Shaikh G, Ehtis- ham S,et al. Syndromic obesity and diabetes: changes in body com- position with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. J Clin Endocrinol Me- tab 2006;91(8):3110-6.
- Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, et al. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005;165(6):675-83.
- Connolly MB, Jan JE, Couch RM, Wong LT, Dimmick JE, Rigg JM. Hepatic dysfunction in Alström disease. Am J Med Genet 1991;40(4):421-4.
- Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Tay- lor JF. Alström syndrome. Report of 22 cases and literature review. Ophthalmology 1998;105(7):1274-80.
Copyright and license
Copyright © 2012 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
