// var refererrurl = document.referrer; // var downloadurl = window.location.href; // var args = "PaperID=" + 37211 + "&RefererUrl=" + refererrurl + "&DownloadUrl=" + downloadurl; // url = url + "?" + args + "&rand=" + RndNum(4); // // $(this).bind('click', function() { ShowTwo(url)}); // } // }); // } // //获取下载pdf注册的cookie // function getcookie() { // var cookieName = "pdfddcookie"; // var cookieValue = null; //返回cookie的value值 // if (document.cookie != null && document.cookie != '') { // var cookies = document.cookie.split(';'); //将获得的所有cookie切割成数组 // for (var i = 0; i < cookies.length; i++) { // var cookie = cookies[i]; //得到某下标的cookies数组 // if (cookie.substring(0, cookieName.length + 2).trim() == cookieName.trim() + "=") {//如果存在该cookie的话就将cookie的值拿出来 // cookieValue = cookie.substring(cookieName.length + 2, cookie.length); // break // } // } // } // if (cookieValue != "" && cookieValue != null) {//如果存在指定的cookie值 // return false; // } // else { // // return true; // } // } // function ShowTwo(webUrl){ // alert("22"); // $.funkyUI({url:webUrl,css:{width:"600",height:"500"}}); // } //window.onload = pdfdownloadjudge;
OJCD> Vol.3 No.3, September 2013
Share This Article:
Cite This Paper >>

Characteristic findings of alstrom syndrome with a case report

Abstract Full-Text HTML XML Download Download as PDF (Size:39KB) PP. 75-77
DOI: 10.4236/ojcd.2013.33014    3,231 Downloads   5,107 Views   Citations
Author(s)    Leave a comment
Fatma Silan, Savas Gur, Laliz Esin Kadioglu, Sinem Atik Yalcintepe, Kubilay Ukinc, Ahmet Uludag, Ozturk Ozdemir

Affiliation(s)

Children’s Health and Diseases Department, School of Medicine, Canakkale on Sekiz Mart University, Canakkale, Turkey.
Endocrinology Department, School of Medicine, Canakkale on Sekiz Mart University, Canakkale, Turkey.
Internal Medicine Department, School of Medicine, Canakkale on Sekiz Mart University, Canakkale, Turkey.
Medical Genetics Department, School of Medicine, Canakkale on Sekiz Mart University, Canakkale, Turkey.

ABSTRACT

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.

KEYWORDS

Alstrom Syndrome; Obesity; Hearing Loss

Cite this paper

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.

References

[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. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=alstrom
[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.

  
comments powered by Disqus
OJCD Subscription
E-Mail Alert
OJCD Most popular papers
Publication Ethics & OA Statement
OJCD News
Frequently Asked Questions
Recommend to Peers
Recommend to Library
Contact Us

Copyright © 2020 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.