Characteristic findings of alstrom syndrome with a case report


Alstrom Syndrome is an autosomal recessive genetic disorder affecting multiple systems. The characteristic features of this syndrome are obesity, type 2 diabetes mellitus, rod-cone dystrophy, hearing loss. Developmental delay, nistagmus, dilated cardiomyopathy, hypertension, recurrent pulmonary infections, short stature, hepatic and renal failure endocrine abnormalities are other clinical features of this syndrome. Here we report on a case with Alstrom Syndrome at the age of thirteen. He was referred to medical genetics clinic from endocrinology where he has been watched because of obesity, type 2 diaibetes mellitus and hypogonadism. His parents were first degree relatives. He was also 95% blind and had hearing loss. When we looked up these findings with a clinical diagnosis we thought about Alstrom Syndrome. It is a rare disease and difficult to make differential diagnosis with other similar syndromes, therefore this case will be a good example of Alstrom Syndrome for the literature.

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Silan, F. , Gur, S. , Kadioglu, L. , Yalcintepe, S. , Ukinc, K. , Uludag, A. and Ozdemir, O. (2013) Characteristic findings of alstrom syndrome with a case report. Open Journal of Clinical Diagnostics, 3, 75-77. doi: 10.4236/ojcd.2013.33014.

Conflicts of Interest

The authors declare no conflicts of interest.


[1] Marshall, J., Beck, S., Maffei, P., et al. (2007) Alstrom syndrome. European Journal of Human Genetics, 15, 1193-1202.
[2] Minton, J.A., Owen, K.R., Ricketts, C.J., et al. (2006) Syndromic obesity and diabetes: Changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. The Journal of Clinical Endocrinology & Metabolism, 91, 3110-3116. doi:10.1210/jc.2005-2633
[3] NCBI(2012)“Bookshelf”gene reviews: Alstrom syndrome.
[4] Marshall, J.D., Bronson, R.T., Collin, G.B., et al. (2005) New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Archives of Internal Medicine, 165, 675-683. doi:10.1001/archinte.165.6.675
[5] OMIM 606844.
[6] Collin, G.B., Marshall, J.D., Ikeda, A., et al. (2002) Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nature Genetics, 31, 74-78.
[7] Hearn, T., Renforth, G.L., Spalluto, C., et al. (2002) Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nature Genetics, 31, 79-83.
[8] OMIM 209900.
[9] Mendioroz, J., Bermejo, E., Marshall, J.D., et al. (2008) Alstrom syndrome: Clinical and genetic features, and a diagnostic guide to foresee complications. Medicina Clínica, 131, 741-746. doi:10.1016/S0025-7753(08)75490-3
[10] Satman, I., Yilmaz, M.T., Gürsoy, N., et al. (2002) Evaluation of insulin resistant diabetes mellitus in Alstrom syndrome: A long-term prospective follow-up of three siblings. Diabetes Research and Clinical Practice, 56, 189-196. doi:10.1016/S0168-8227(02)00004-9
[11] Koray, F., Dorter, C., Benderli, Y., et al. (2001) Alstrom syndrome: A case report. Journal of Oral Science, 43, 221-224. doi:10.2334/josnusd.43.221
[12] Ucar, T., Berberoglu, M., Ocal, G., et al. (2003) Metabolic, endocrine and clinical findings in a case with alstrom syndrome. Journal of Ankara Medical School, 25, 143-148.

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