JCRMHS

 an unusual case of Wolfram syndrome 1 with prevalent psychiatric symptoms by Luciana Rigoli in   Journal of Clinical Case Reports Medical Images and Health Sciences Abstract  Wolfram syndrome 1 (WS1) is an autosomal recessive and neurodegenerative disease characterized by diabetes mellitus, diabetes insipidus, optic atrophy, and deafness. WS1 patients often experience neurological disorders, including brainstem and cerebellar atrophy and cognitive impairment. Psychiatric disorders are found in 60% of WS1 patients, and some of them exhibit suicidal behavior. WS1 is rapidly progressive and has a poor prognosis, leading to early death. The disease is caused by mutations in the WFS1 gene, which encodes a transmembrane glycoprotein called "wolframin." Here, we describe a patient with a severe phenotype of WS1, characterized by a high prevalence of psychiatric symptoms. We also extended our genetic study to some family members of the patient who manifested psychiat...

  Diabetes mellitus, and neuropsychiatric features in Wolfram Syndrome 1 by Luciana Rigoli in  Journal of Clinical Case Reports Medical Images and Health Sciences Abstract  Wolfram syndrome 1, an autosomal recessive and neurodegenerative disorder, is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other disorders such as neuropsychiatric issues, abnormalities in the urinary tract and endocrinological alterations. The clinical course of WS1 is fast-progressing, with patients who die at a mean age of 30 years. Respiratory failure is the most prevalent cause of death due to brainstem atrophy. Approximately 90% of WS1 cases are caused by mutations in the WFS1 gene, which codes for wolframin, a transmembrane glycoprotein. Here, we will focus on two clinical features of WS1: diabetes mellitus, and neuropsychiatric disorders. Diabetes mellitus in WS1 is insulin-dependent, non-auto-immune, and has clinical features that differ from the most c...