WOLFRAM (DIDMOAD) SYNDROME: A FAMILIAL CLINICAL CASE WITH LITERATURE REVIEW
DOI:
https://doi.org/10.55640/Abstract
This article presents an extended familial clinical case of Wolfram (DIDMOAD) syndrome with an in-depth literature review, discussion of genetic mechanisms, and therapeutic perspectives. Wolfram syndrome is a rare hereditary disorder characterized by the combination of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, along with neurological and endocrine complications. Despite its rarity, the disease has significant clinical relevance due to its diagnostic complexity and poor prognosis. This paper emphasizes the importance of timely diagnosis, interdisciplinary management, and future therapeutic approaches.
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References
1.Mishra R, Chen BS, Richa P, Yu-Wai-Man P. Wolfram syndrome: new pathophysiological insights and therapeutic strategies. 2021.
2.Iafusco D, Zanfardino A, Piscopo A, et al. Metabolic Treatment of Wolfram Syndrome. 2022;19(5):2755.
3.Serbis A, Rallis D, Giapros V, et al. Wolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective. 2023;24(4):3690.
4.Du D, Tuhuti A, Ma Y, et al. Wolfram syndrome type 1: a case series. 2023;18(1):359.
5.Rosanio FM, Di Candia F, Occhiati L, et al. Wolfram Syndrome Type 2: A Systematic Review. 2022;19(2):835.
6.Delvecchio M, Iacoviello M, Pantaleo A, et al. Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: Genotype-Phenotype Correlations. 2021;18(9):4796.
7.Caruso V, Raia A, Rigoli L. Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease. 2024;15(8):984.
8.Rigoli L, Caruso V, Salzano G, Lombardo F. Wolfram Syndrome 1: From Genetics to Therapy. 2022;19(6):3225.
9.Dianov OA, Lavrova EA, Maltsev VV, Oleynik DA. Wolfram Syndrome, incomplete form. Clinical case. Problems of Endocrinology.
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