CADASIL Masquerading as Multiple Sclerosis: A Case Report with Atypical Presentation and Uncharacteristic Neuroimaging Findings

Document Type : Case Report

Authors

1 General Practitioner, Multiple Sclerosis Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran

2 Assistant Professor, Multiple Sclerosis Research Center, Neuroscience Institute AND Department of Neurology, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran

3 Associate Professor, Multiple Sclerosis Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran

Abstract

Background: Autosomal dominant cerebral arteriopathy with subcortical infarction and leukoencephalopathy (CADASIL) is a genetic vascular disorder clinically characterized by migraine, transient ischemic attacks (TIA) and cognitive deficits and it is caused by mutations in the NOTCH3 gene.
Case Report: The presented case is a patient with magnetic resonance imaging (MRI) and atypical clinical findings, which was misdiagnosed as multiple sclerosis (MS) for several years, the patient was referred to our service due to recurrent neurological deficits. MRI examinations and gene analysis were done for them. MRI showed extensive hyperintensity in T2 and fluid-attenuated inversion recovery (FLAIR) and multiple small hemorrhages in susceptibility-weighted imaging (SWI) in the periventricular region, external capsule, and anterior temporal lobe. Genetic analysis of the NOTCH3 gene confirmed the diagnosis of CADASIL. Once CADASIL was confirmed, MS-related treatments were discontinued.
Conclusion: The presented case underscores the importance of carefully evaluation of clinical findings and neuroimaging in suspected MS patients and emphasizes the importance of CADASIL as an overlooked differential diagnosis.

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References

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Journal of Isfahan Medical School
Volume 41, Issue 721
1st Week, August
July and August 2023
Pages 401-405

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History

  • Receive Date: 15 February 2023
  • Accept Date: 24 July 2023

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