title: Wolfram Syndrome. Case report.
abstract: Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life.
authors.affiliation: Department of Pediatrics,Faculty of Medicine University of Rzeszow, Poland.
authors.forename: Wojciech
authors.initials: W
authors.lastname: Tarała
authors.affiliation: Department of Pediatrics,Faculty of Medicine University of Rzeszow, Poland.
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Drachal
authors.affiliation: Department of Pediatrics,Faculty of Medicine University of Rzeszow, Poland.
authors.forename: Artur
authors.initials: A
authors.lastname: Mazur
authors.affiliation: Department of Pediatrics,Faculty of Medicine University of Rzeszow, Poland.
authors.forename: Bartosz
authors.initials: B
authors.lastname: Korczowski
authors.affiliation: Department of Pediatrics, Hematology, Oncology and Diabetology, Medical University in Łódź, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Szadkowska
authors.affiliation: Department of Pediatrics, Hematology, Oncology and Diabetology, Medical University in Łódź, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Zmysłowska
authors.affiliation: Department of Pediatrics, Hematology, Oncology and Diabetology, Medical University in Łódź, Poland.
authors.forename: Wojciech
authors.initials: W
authors.lastname: Młynarski
mesh_terms: D000293:Adolescent; D003920:Diabetes Mellitus / Q000188:drug therapy* / Q000209:etiology; D005260:Female; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007328:Insulin / Q000627:therapeutic use; D015418:Optic Atrophies, Hereditary / Q000188:drug therapy* / Q000209:etiology; D011044:Poland; D035583:Rare Diseases / Q000175:diagnosis* / Q000188:drug therapy*; D016896:Treatment Outcome; D014570:Urologic Diseases / Q000188:drug therapy* / Q000209:etiology; D014929:Wolfram Syndrome / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*
chemical_list: D007004:Hypoglycemic Agents; D007328:Insulin
keywords: Wolfram Syndrome; case report; children