A 15-year-old boy was referred because of bilateral hydroureteronephrosis. He had poorly controlled diabetes mellitus since he was 4 years old. He had polyuria and polydipsia. On water deprivation test, he developed hypernatremia along with increased levels of BUN and creatinine. He also had hypertension that was effectively managed with losartan. Bilateral optic atrophy was detected on ophthalmoscopic examination. It seems that this boy is a rare case of Wolfram syndrome.
Keywords: Diabetes Insipidus; Diabetes Mellitus; Wolfram Syndrome; DIDMOAD; Deafness; Optic Atrophy.
Behrman RE, Kliegman RM, Arvin AM, eds. Nelson Textbook of Pediatrics. 15th Ed. W.B. Saunder Company. Philadelphia, PA; 2011:1574.
Ristow M. Neurodegenerative disorders associated with diabetes mellitus. J Mol Med 2004;82:510-29.
Manaviat MR, Rashidi R, Mohammadi SM. Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports. Cases Journal 2009;2:9355.
A Wolfram Syndrome. A service of the U.S. National Library of Medicine® Reviewed April 2012.
Barrett TG, Bundey SE, Macleod AF: Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995;346(8988):1458-1463.
Ari S, Keklíkçí U, Caça I, Unlü K, Kayabaşi H. Wolfram syndrome: case report and review of the literature, Ann Ophthalmol (Skokie) 2007;39(1):53-5.
Buryk MA, Krishna KB, Rivera-Vega M, Garibaldi L. Wolfram syndrome: Are we aware of the severe hypoglycemic unawareness? Journal of Diabetes Research & Clinical Metabolism 2013;Vol 2: DOI: http://dx.doi.org/10.7243/2050-0866-2-4.