Multiple sclerosis and Fabry disease - diagnostic "mixup".
Miljenka-Jelena Jurašić1, Vanja Bašić Kes1, Iris Zavoreo1
1University Department of Neurology, Sestre milosrdnice University Hospital Center, Vinogradska 29, 10000, Zagreb, Croatia.
Multiple Sclerosis and Related Disorders
|June 30, 2019
Summary
Diagnosing demyelinating disorders can be complex. A family history of rare neurologic disease, like Anderson-Fabry disease, complicated initial assessment, but multiple sclerosis was ultimately diagnosed alongside it.
Area of Science:
- Neurology
- Genetics
- Demyelinating Disorders
Background:
- Multiple sclerosis (MS) is a common demyelinating disorder.
- Diagnostic challenges arise with atypical family histories.
Observation:
- A patient presented with optic neuritis and CNS demyelinating lesions.
- A family history revealed a rare Anderson-Fabry disease diagnosis.
Findings:
- Initial presentation mimicked common demyelinating conditions.
- Genetic confirmation of Anderson-Fabry disease prompted initial treatment.
- Clinical, radiological, and laboratory data led to a "wait and see" approach for a second diagnosis.
- Follow-up MRI and multidisciplinary consultation confirmed a subsequent diagnosis of multiple sclerosis.
Implications:
- Complex cases require careful, multidisciplinary evaluation.
- Genetic factors can influence the diagnosis of neurological disorders.
- Simultaneous diagnosis and treatment of multiple conditions are possible.
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