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Updated: May 27, 2025
Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
Published on: July 19, 2019
Multiple Sclerosis in a Patient with Friedreich's Ataxia (P4-6.016)
1Neurology, University of Cincinnati.
Objective:
To report clinical features in a patient with genetically confirmed Friedreich's Ataxia (FRDA) that led to the definitive diagnosis of multiple sclerosis (MS).
Background:
FRDA is caused by homozygous GAA trinucleotide repeat expansion in the Frataxin gene. While white matter abnormalities are seen in FRDA, none described so far have been compatible with a diagnosis of MS.
Design/Methods:
Case Report: A 22-year-old woman was diagnosed with FRDA at ten years of age. She presented with gait ataxia at age eight years. Initial examination showed ocular dysmetria, areflexia, intention tremor, dysmetria on finger-to-nose testing, and gait ataxia. Genetic testing showed 933 and 800 repeats in alleles 1 and 2, respectively. At 20 years of age, she was non-ambulatory with moderate ataxic dysarthria, severe truncal and extremity ataxia. At 21, she developed acutely worsening paresthesia in her fingers, fatigue, and bilateral arm and leg weakness. Examination revealed new findings of weakness in the right greater than the left arm and leg and loss of joint position sense in her fingers. MRI brain and total spine demonstrated multifocal hyperintense lesions in supratentorial and infratentorial locations and the cervical spinal cord; two lesions demonstrated enhancement. CSF analysis revealed 11 WBCs (94% lymphocytes), normal protein, and three unique oligoclonal bands. Serum NMO antibody was negative. Additional extensive serologic testing for the MS differential diagnosis was negative. High-dose intravenous steroids resulted in improvement of arm strength. Three months later, she developed right foot numbness. MRI brain demonstrated a new enhancing white matter lesion over the right posterior horn of the lateral ventricle.
Results:
N/A.
Conclusions:
The definitive diagnosis of multiple sclerosis in a FRDA patient is novel and requires careful reconciliation of the symptoms, clinical exam findings, and ancillary testing. The development of symptoms incompatible with FRDA should prompt clinicians to consider additional neurologic diagnoses. Disclosure: Dr. Yu has nothing to disclose. Dr. Kushlaf has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion AstraZeneca Rare Disease. Dr. Kushlaf has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi Genzyme. Dr. Kushlaf has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Immunovant. Dr. Kushlaf has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB. Dr. Kushlaf has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Sanofi Genzyme.
Insights
This case report details a patient with Friedreich's Ataxia (FRDA) who was diagnosed with multiple sclerosis (MS). The study highlights the importance of considering other neurological diagnoses when symptoms deviate from typical FRDA presentation.
Area of Science:
- Neurology
- Genetics
- Neuroimmunology
Background:
- Friedreich's Ataxia (FRDA) is a rare inherited neurodegenerative disorder caused by GAA trinucleotide repeat expansion in the Frataxin gene.
- While white matter abnormalities can occur in FRDA, they are typically not consistent with the diagnostic criteria for multiple sclerosis (MS).
Observation:
- A 22-year-old female, diagnosed with FRDA at age 10, presented with new neurological symptoms including paresthesia, fatigue, and progressive weakness.
- MRI revealed multifocal brain and spinal cord lesions, with contrast enhancement, suggestive of demyelination.
- Cerebrospinal fluid analysis showed lymphocytic pleocytosis and oligoclonal bands, further supporting an inflammatory demyelinating process.
Findings:
- The patient's clinical presentation, MRI findings, and CSF analysis led to a definitive diagnosis of multiple sclerosis (MS) in the context of genetically confirmed Friedreich's Ataxia (FRDA).
- Treatment with high-dose intravenous steroids resulted in symptomatic improvement, consistent with MS management.
Implications:
- This case underscores the necessity of considering diagnoses beyond FRDA, particularly multiple sclerosis, when patients exhibit atypical neurological symptoms or progression.
- Careful clinical evaluation, including advanced imaging and laboratory tests, is crucial for accurate diagnosis in complex neurological cases.
- The co-occurrence of FRDA and MS in this patient presents a unique diagnostic challenge and highlights the importance of differential diagnosis in neurodegenerative disorders.
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