Öz
A 10 years old boy admitted to Ophthalmology Clinic with the complaint of low vision. His ophthalmologic examination showed decreased visual acuity as counting fingers from 2 meters in both eyes. Biomicroscopic examination of his both eyes was normal. Optic atrophy was apparent in his both eyes on fundoscopic examination. He has been followed with the diagnosis of diabetes mellitus type 1 for the last two years and had nocturnal enuresis. He was diagnosed as Wolfram (DIDMOAD) syndrome based on the results of clinical and laboratory examinations. His medical management has been carried out carefully however he was no longer able to attend his school. His IQ was within normal ranges and he was referred to a school which educates visually disabled children. Wolfram syndrome can easily be diagnosed in outpatient clinics since it does not require a genetic analysis. Physicians should keep in mind this diagnosis during their daily practice and provide the best management to the patient by achieving interdisciplinary co-operation.
Anahtar Kelimeler
Kaynakça
- Ari S, Keklikci U, Caca I, Unlu K, Kayabasi H. Wolfram Syndrome: Case Report and Review of Literature. Ann Oph- thalmol 2007;19:1-3.
- Barrett TG, Bundey SE. Wolfram (DIDMOAD) syndrome. J Med Genet 1997;34: 838-841.
- Hilson JB, Merchant SN, Adams JC, Joseph JT. Wolfram syndrome: a clinicopathologic correlation. Acta Neuropathol. 2009 May 16. Epub ahead of print.
- Huizing M, Brooks BP, Anikster Y. Optic atrophies in me- tabolic disorders. Mol Genet Metab 2005;86:51-60.
- Swift M, Gorman R. Swift Psychiatric Disorders and Muta- tions at the Wolfram Syndrome Locus. Biol Psychiatry 2000;47:787-793
- Megighian D, Savastano M. Wolfram syndrome. Int J Pediatr Otorhinolaryngol 2004;68:243-247.
Öz
On yasında erkek hasta görme azlığı sikayeti ile Göz Hastalıkları Polikliniğine basvurdu. Her iki gözde görme keskinliği iki metreden parmak sayma düzeyinde idi. Her iki gözün biyomikroskopla muayenesi normal sınırlardaydı. Göz dibi incelemesinde her iki gözde optik atrofi belirgindi. Hasta iki yıldır Tip 1 diabetes mellitus tanısıyla izlenmekte ve geceleri idrar kaçırmaktaydı. Yapılan tetkikler sonucunda hastaya Wolfram (DIDMOAD) sendromu tanısı konuldu. Düzenli tıbbi tedavi altında olmasına rağmen hasta zamanla okuluna devam edemez hale geldi. Zeka düzeyi normal sınırlar içerisinde olan hasta, görme engelliler için eğitim veren bir kuruma yönlendirildi. Wolfram sendromu genetik arastırmaya gerek kalmadan klinikte kolayca tanı konulabilen bir sendrom olup, hekimler günlük pratiklerinde bu tanıyı akıllarında bulundurmalı ve klinikler arası isbirliği ile hastaya en iyi tedavi imkanı sunmalıdırlar.
Anahtar Kelimeler
Kaynakça
- Ari S, Keklikci U, Caca I, Unlu K, Kayabasi H. Wolfram Syndrome: Case Report and Review of Literature. Ann Oph- thalmol 2007;19:1-3.
- Barrett TG, Bundey SE. Wolfram (DIDMOAD) syndrome. J Med Genet 1997;34: 838-841.
- Hilson JB, Merchant SN, Adams JC, Joseph JT. Wolfram syndrome: a clinicopathologic correlation. Acta Neuropathol. 2009 May 16. Epub ahead of print.
- Huizing M, Brooks BP, Anikster Y. Optic atrophies in me- tabolic disorders. Mol Genet Metab 2005;86:51-60.
- Swift M, Gorman R. Swift Psychiatric Disorders and Muta- tions at the Wolfram Syndrome Locus. Biol Psychiatry 2000;47:787-793
- Megighian D, Savastano M. Wolfram syndrome. Int J Pediatr Otorhinolaryngol 2004;68:243-247.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Eylül 2009 |
| Gönderilme Tarihi | 2 Mart 2015 |
| Yayımlandığı Sayı | Yıl 2009 Cilt: 36 Sayı: 3 |