Wolfram syndrome: A case report
DOI:
https://doi.org/10.33448/rsd-v10i6.16116Keywords:
Wolfram syndrome; Psychiatry; Optic nerve; Diabetes Mellitus; Epilepsy.Abstract
Wolfram Syndrome is an autosomal recessive disease linked to the short arm of chromosome 4. The main clinical features are diabetes mellitus and optic nerve atrophy, as well as central diabetes insipidus, ataxia, sensorineural deafness and changes in the urinary tract. Other symptoms may be present, but less common. The harms in the life of its carriers are profound, due to the degenerative and non-remissive nature of the syndrome. The present study aims to report the case of a female patient, 23 years old (2020), born in Alfenas - Minas Gerais - Brazil, with the Wolfram Syndrome, as well disclose more knowledge about the syndrome. In addition, we address the need for interaction between different health professionals to minimize the suffering experienced by people with the disease and their families.
References
Aversi-Ferreira, T. A. et al. (2019). Neuropsychology of the temporal lobe: Luria's and contemporary conceptions. Dementia & Neuropsychologia. 13(3), 251-258
Barrett, T. G., Bundey, S. E. & Macleod, A. F. (1995). Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 346(8988):1458–1463.
Barrett, T. G., & Bundey, S. E. (1997). Wolfram (DIDMOAD) syndrome. J. Med. Genet. 34:838–841.
Batista, G.S. , Barbosa, L.D. da C. e S. and Silva, M.E.D. da C. (2020). Family repercussion of the deinstitutionalization of the ent with mental disorder. Research, Society and Development. 9(11), e35991110006.
Bespalova, I. N. et al. (2001). Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum. Mol. Genet.10(22):2501-8. doi: 10.1093/hmg/10.22.2501. PMID: 11709537; PMCID: PMC6198816.
Chang, N. C., Nguyen, M., Germain, M. & Shore, G. C. (2010). Antagonism of Beclin 1-dependent autophagy by BCL-2 at the endoplasmic reticulum requires NAF-1. EMBO J/. 29(3): 606–618.
Chen, Y. F. et al. (2009). Cisd2 deficiency drives premature aging and causes mitochondriamediated defects in mice. Genes Dev. 23(10):1183–1194.
Hershey, T., et al. (2012). Early brain vulnerability in Wolfram syndrome. PLoS ONE. 7(7):e40604. https://doi.org/10.1371/journal.pone.0040604
Inoue, H. et al. (1998). A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat. Genet. 20(2):143-8. doi: 10.1038/2441. PMID: 9771706.
Lu, S. et al. (2014). A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome. Proc Natl Acad Sci U S A. 9;111(49):E5292-301. doi: 10.1073/pnas.1421055111.
Luria A. R. (2015). A construção da mente. São Paulo: Icone. 2015b.
Luria A. R. (1981). Fundamentos de Neuropsicologia. São Paulo: Editora da Universidade de São Paulo e Livros Técnicos e Científicos Editora S.A.
Ozcan, L. & Tabas, I. (2012). Role of endoplasmic reticulum stress in metabolic disease and other disorders. Annu. Rev. Med. 63:317–328.
Shang, L., et al. (2014). β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome. Diabetes. 63(3):923–933.
Silva, M. L. V. da, Soares, N. de S., Soares, R. S. da C., Andrade, M. K. B. de, Ramos, Z. S., Abreu, I. dos S., Leão, G. K. S. A. & Soares, F. A. de F. (2020). Mental health approaches in people with attention-deficit hyperactivity disorder: an integrative review. Research, Society and Development. 9(8), e628985933.
Teixeira, C. A. B., Fernandes, M. N. de F., Macedo, R. F. & Gherardi-Donato, E. C. da S. (2020). An interface between Early Life Stress and adulthood Depression: a reflexive analysis. Research, Society and Development. 9(8), e705985952.
Urano, F. (2014). Wolfram syndrome iPS cells: the first human cell model of endoplasmic reticulum disease. Diabetes. 63(3), 844-6.
Urano, F. (2016). Wolfram Syndrome: Diagnosis, Management, and Treatment. Current Diabetes Reports. 16(1), 6.
Wolfram, D. & Wagner, H. P. (1938). Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Proc. Staff Meet Mayo Clin. 13: 715-718.
Zmyslowska, A. et al. (2014). Central Nervous System PET-CT Imaging Reveals Regional Impairments in Pediatric Patients with Wolfram Syndrome. PLoS ONE. 9(12): e115605. https://doi.org/10.1371/journal.pone.0115605
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2021 Vitor Faria Soares Ferreira; Camila Reis Campos; Anderson Michel Furtado; Leonardo Ferreira Caixeta; Marcelo Caixeta; Tales Alexandre Aversi-Ferreira
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.