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Relapsing-remitting multiple sclerosis in a patient with Huntington's disease
Franco Emanuel Appiani1, Francisco Javier Ruiz Miyares2, Fiorella Karina Miraval Marquez2
1Neurology, Hospital CIMA, Barcelona, Spain francoappiani@gmail.com.
BMJ Case Reports
|April 17, 2026
Summary
A woman with Huntington's disease developed new neurological symptoms. She was diagnosed with multiple sclerosis, emphasizing the need to consider co-existing conditions in complex cases.
Area of Science:
- Neurology
- Neuroimmunology
Background:
- Huntington's disease (HD) is a progressive neurodegenerative disorder.
- New neurological symptoms in HD patients can be challenging to diagnose.
- Attributing all symptoms solely to HD may overlook other potential conditions.
Purpose of the Study:
- To report a case of a patient with genetically confirmed Huntington's disease who developed symptoms suggestive of a secondary neurological condition.
- To highlight the diagnostic challenges and the importance of considering alternative diagnoses beyond the primary disease process.
Main Methods:
- Case report of a woman in her 50s with genetically confirmed Huntington's disease.
- Clinical presentation: right-sided arm sensory symptoms, hypoesthesia, and choreiform movements.
- Diagnostic workup included brain MRI, cervical spinal cord imaging, cerebrospinal fluid analysis, and exclusion of infectious, paraneoplastic, metabolic, and other autoimmune causes.
- Diagnosis of relapsing-remitting multiple sclerosis based on the 2024 McDonald criteria.
Main Results:
- Brain MRI showed demyelinating lesions; spinal cord MRI revealed a contrast-enhancing lesion.
- Cerebrospinal fluid analysis detected oligoclonal bands (IgG and IgM).
- Exclusion of other potential causes led to a diagnosis of co-existing relapsing-remitting multiple sclerosis.
- Treatment with dimethyl fumarate was initiated without adverse effects or disease progression.
Conclusions:
- This case underscores the importance of thorough investigation for new neurological symptoms in patients with Huntington's disease.
- It is crucial not to automatically attribute all new manifestations to the underlying Huntington's disease.
- Considering and excluding co-existing neurological conditions like multiple sclerosis is essential for accurate diagnosis and management.
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