A CASE WITH WOLFRAM (DIDMOAD) SYNDROME AND ORAL FINDINGS (A CASE REPORT)
Öz
Wolfram Syndrome is an unusual, congenital, multi system disorder. Diabetes mellitus, Diabetes insipidus, optic
atrophy and deafness are most observable symptoms. Neurological, urinary tract and psychiatric disorders are the
other common symptoms. Diabetes mellitus and optic atrophy are usually the first findings.
In this case report we present 20 year old-male patient, that was have Wolfram syndrome. Oral clinical and
radiological findings were presented.
Anahtar Kelimeler
Kaynakça
- [1] Internet: OMIM, In: Online Mendelian Inheritance in Man.http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=222300 (2007)
- [2] Swift, R.G., Sadler, D.B., Swift, M.,” Psychiatric findings in Wolfram syndrome homozygotes”, Lancet,336: 667-669 (1990).
- [3] Barrett, T.G., Bundey, S.E., Macleod, A.F., “Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome”, Lancet, 2;346 (8988): 1458-63 (1995).
- [4] Hardy, C., Khanim, F., Torres, R., Scott-Brown M., Seller A, Poulton J., Collier D., Kirk J.,Polymeropoulos M., Latif F., Barrett T., “Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1”, Am J Hum Genet.,65(5):1279-90 (1999).
- [5] Bu, X., Rotter, J.I., ”Wolfram syndrome: a mitochondrial-mediated disorder ?”, Lancet, 4;342 (8871):598-600 (1993).
- [6] Sugano, N., Kawamoto, K., Numazaki, H., Murai, S., Ito, K., “Detection of mitochondrial DNA mutations in human gingival tissues”, J. Oral Sci., 42 (4):221-223 (2000).
- [7] Zen, P.R., Pinto, L.L., Schwartz, I.V., Barrett, T.G., Paskulin, G., “Report of a Brazilian patient with Wolfram Syndrome”, J. Pediatr (Rio J)., 78(6): 529-32 (2002).
- [8] Rotig, A., Cormier, V., Chatelain, P., Francois, R., Saudubray, J.M., Rustin, P., Munnich, A., ”Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)”, J. Clin. Invest., 91(3): 1095-8 (1993).
Ayrıntılar
Birincil Dil
İngilizce
Konular
Mühendislik
Bölüm
Araştırma Makalesi
Yazarlar
Hasan Hatipoğlu
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Müjgan Güngör Hatipoğlu
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Özden Kansu
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Yayımlanma Tarihi
17 Aralık 2007
Gönderilme Tarihi
14 Eylül 2017
Kabul Tarihi
14 Kasım 2017
Yayımlandığı Sayı
Yıl 2007 Sayı: 014