TY - JOUR
T1 - CADASIL as Multiple Sclerosis Mimic
T2 - A 48-year-old man with severe leukoencephalopathy and spinal cord involvement
AU - Motolese, Francesco
AU - Rossi, Mariagrazia
AU - Gangemi, Emma
AU - Bersano, Anna
AU - Scelzo, Emma
AU - Di Lazzaro, Vincenzo
AU - Capone, Fioravante
N1 - Funding Information:
We acknowledge the patient and his family for their kindness and disposability.
Publisher Copyright:
© 2020 Elsevier B.V.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/6
Y1 - 2020/6
N2 - 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.
AB - 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.
KW - CADASIL
KW - Leukoencephalopathy
KW - Multiple Sclerosis
KW - Spinal cord lesion
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U2 - 10.1016/j.msard.2020.102014
DO - 10.1016/j.msard.2020.102014
M3 - Article
C2 - 32114370
AN - SCOPUS:85079896644
VL - 41
JO - Multiple Sclerosis and Related Disorders
JF - Multiple Sclerosis and Related Disorders
SN - 2211-0348
M1 - 102014
ER -