Medicina Fluminensis, Vol. 60 No. 2, 2024.
Case report, case study
https://doi.org/10.21860/medflum2024_316227
A Rare Case of a Patient with Myotonic Dystrophy Type 1 and Multiple Sclerosis – a Case Report
Matea Prenc
orcid.org/0000-0002-1240-9626
; KBC Sestre Milosrdnice, Klinički zavod za dijagnostičku i intervencijsku radiologiju, Zagreb, Hrvatska
*
Dolores Janko Labinac
; Opća bolnica Pula, Djelatnost za neurologiju, Pula, Hrvatska
Lorena Radolović Prenc
; Opća bolnica Pula, Djelatnost za neurologiju, Pula, Hrvatska
Mirjana Flegarić Bradić
orcid.org/0000-0001-9839-704X
; KBC Sestre Milosrdnice, Klinički zavod za dijagnostičku i intervencijsku radiologiju, Zagreb, Hrvatska
* Corresponding author.
Abstract
Aim: To present a patient with an extremely rare combination of myotonic dystrophy 1 and multiple sclerosis. Myotonic dystrophy type 1 is the most common inherited muscular dystrophy in adults, while multiple sclerosis is a demyelinating autoimmune disease of the central nervous system caused by the interaction of genetic and environmental factors. The co-occurrence of these two diseases has only been described in one case in world literature. Case report: A 31-year-old male patient presented with repeated episodes of spastic left hemiparesis, ataxia, dysarthria, and dyplopia, as well as mental deterioration and progressive muscle atrophy. DNA analysis revealed myotonic dystrophy 1, delayed visual evoked potentials, the presence of oligoclonal bands of immunoglobulin G in the cerebrospinal fluid, and MRI findings of the brain were suggestive of multiple sclerosis. After administration of corticosteroids, the patient's condition improved, and some symptoms resolved. Conclusion: All clinical and laboratory findings suggest that the patient suffers from both listed diseases. Since this is an extremely rare case, it can certainly arouse scientific and professional interest.
Keywords
Multiple Sclerosis; Myotonic Dystrophy; Oligoclonal Bands
Hrčak ID:
316227
URI
Publication date:
1.6.2024.
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