CADASIL and Cavernomas: A Common Mechanism

摘要

Cerebralautosomal dominantarteriopathywith subcorticalinfarctsand leukoencephalopathy (CADASIL) isan autosomal dominant,noninflammatory, non-atherosclerotic microangiopathy affecting thecentral nervous systempredominantly; presenting typicallywithmigraine-likeheadaches, young-onsetstrokes followed by cognitive decline. Thestrokes inCADASIL are usually infarcts, but MRIevidence ofmicrobleeds isfound in around 35%ofthe patients.[1] Also, major symptomatic hemorrhagesare described rarely in some patients.[2] But,cerebralcavernousmalformations (CCMs) have never been described in patients withCADASIL. Wereportan atypical genetically confirmed case ofCADASILpresentingwith recurrentseizuresand imaging evidence ofmultiple CCMsand tried to put forward acommon pathophysiologicalassociation.A45-year-old lady presented to our hospitalwith recurrentepisodes oftingling in theright hand for thelast 3 years. Shealso had two episodes ofloss ofawareness in thelast 2 years. Theright-hand tinglingwould last forafewminutes, sudden in its onsetand cessation, notassociated with theloss ofawareness or weakness during thoseepisodesand would occur oncein 2–3 months. 2 years before presentation, she had an episode ofbehavioralarrest preceded by epigastricrising sensation,associated with intactcomprehension and speech arrest lasting for 5–10 minwithoutanyinvoluntarymovements orautomatisms. 8 monthsago, she had sudden loss ofconsciousnessand tonic posturing ofallfour limbs lasting for 10 minwith postictalconfusion for halfan hour. She did not haveany history ofmigraine-like headaches, stroke-likeepisodes,and cognitive decline. Hersymptoms weresuggestive offocalseizures. She wasevaluated elsewhere beforecoming to us whereshe was told to have multiple CCMsandwas prescribed levetiracetam. Following this, her symptoms resolved. Shecameforasecond opinion to our hospital. Wereviewed her familyhistory, whichwas significant. Her 70-year-old mother had two episodes ofstroke; first being left hemiparesisat theage of 35 years, second beingsudden onsetslurring ofspeech at 63 years ofage. Later, she developed insidious onset gradually progressivecognitive declinefor the past 2years.