AI Article Synopsis
- Wolfram syndrome is a rare genetic disorder that progresses over time and is marked by symptoms like diabetes mellitus, optic nerve atrophy, deafness, and neurological issues.
- Diagnosis usually involves clinical assessment and genetic testing, but there are currently no cures or ways to slow the disease's progression.
- A case study of a 23-year-old male highlights the importance of early diagnosis and treatment of complications such as breathing problems and swallowing difficulties, which can enhance the quality of life for affected individuals.
Article Abstract
Wolfram syndrome is a rare, multisystemic, progressive, and autosomal-recessive genetic disease, characterized by diabetes mellitus and diabetes insipidus, optic nerve atrophy, deafness, and other neurological signs. The diagnosis is usually based on history and clinical manifestations but genetic tests are necessary for confirmation. Currently, there are no treatments available to cure or delay disease progression. This report describes a case of a 23-year-old male diagnosed with Wolfram syndrome who presented to the emergency department with several episodes of loss of consciousness. This case reinforces the need for an early diagnosis of obstructive and central apneas, respiratory failure, and dysphagia, in order to prevent and treat the complications of this disease and to improve patients' quality of life.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10621881 | PMC |
| http://dx.doi.org/10.7759/cureus.46426 | DOI Listing |
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