Abstract Details

Title CADASIL: a provable disorder, when diagnosed can dramatically change management.

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) P11 - Poster Session 11 (8:00 AM-9:00 AM)

Poster/Presentation
Number 4-010

Objective

We present a case of CADASIL initially diagnosed and treated as multiple sclerosis (MS).

Background Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) often carries a wide clinical phenotype and may mimic transient ischemic attacks, migraine with aura, and cognitive disorders, and as such may be difficult to diagnose.

Design/Methods A 48 year-old woman presented with headaches and progressively worsening memory complaints for ten years. In years prior, she was diagnosed with MS based on reported strong family history, MRI findings of white matter disease, and recurrent transient episodes of worsening gait instability, numbness of the right hemiface, fatigue, and memory loss. She had been previously treated with glatiramer acetate and interferon beta-1a. She presented to us with tangential speech, pseudobulbar affect, impaired delayed recall, and diffuse hyperreflexia. CSF revealed normal cell count, protein, glucose, and no oligoclonal bands. MRI brain with and without contrast revealed extensive confluent foci of T2 and FLAIR hyperintensities in the periventricular and subcortical white matter, corpus callosum, pons, and right cerebellum. MRI C-spine and T-spine were unremarkable. Due to clinical suspicion, genetic testing was obtained and confirmed a Notch 3 mutation on chromosome 19. MS therapies were discontinued and aspirin was started.

Results N/A

Conclusions

Chart momentum can be a powerful source of diagnostic bias for clinicians, and the necessity of careful consideration of alternative diagnoses and re-challenging of prior diagnoses is paramount. MRI findings of CADASIL include symmetric T2 hyperintensities in the periventricular/deep white matter, basal ganglia, and brainstem structures. Presence of these MRI patterns as well as a family history of a similar clinical picture should raise suspicion of CADASIL and mitigate potentially dangerous misdiagnoses.

Authors/Disclosures
Muhammad H. Jaffer, MD PRESENTER	Dr. Jaffer has nothing to disclose.
Martin A. Myers, MD (James A Haley VA)	No disclosure on file
	No disclosure on file
Tigran Kesayan, MD (VUMC Pain Medicine and Neurology)	Dr. Kesayan has nothing to disclose.

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