CADASIL as Multiple Sclerosis Mimic: A 48-year-old man with severe leukoencephalopathy and spinal cord involvement

Francesco Motolese, Mariagrazia Rossi, Emma Gangemi, Anna Bersano, Emma Scelzo, Vincenzo Di Lazzaro, Fioravante Capone

Research output: Contribution to journalArticlepeer-review

Abstract

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a common cause of inherited stroke in young adults. CADASIL causes extensive white matter T2 hyperintensities at brain MRI, in particular involving anterior-temporal lobes and external capsules; usually, there is no spinal cord involvement. Since CADASIL clinical spectrum is heterogeneous and MRI findings are sometimes not specific, Multiple Sclerosis (MS) represents a frequent CADASIL misdiagnosis. Herein, we describe the case of a 48-year-old man affected by CADASIL and referred to our clinic with an initial diagnosis of secondary progressive MS because of diffuse leukoencephalopathy and spinal cord lesions at MRI.

Original languageEnglish
Article number102014
JournalMultiple Sclerosis and Related Disorders
Volume41
DOIs
Publication statusPublished - Jun 2020

Keywords

  • CADASIL
  • Leukoencephalopathy
  • Multiple Sclerosis
  • Spinal cord lesion

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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