Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).

Dragan Stojanov,Daniela Benedeto-Stojanov,Srdjan Ljubisavljevic,Sasa Vujnovic,Aleksandar Tasic,Slobodan Vojinovic,Aleksandra Aracki-Trenkic

doi:10.17305/bjbms.2015.247

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an autosomal dominant vascular disorder. Diagnosis and follow-up in patients with CADASIL are based mainly on magnetic resonance imaging (MRI). MRI shows white matter hyperintensities (WMHs), lacunar infarcts and cerebral microbleeds (CMBs). WMHs lesions tend to be symmetrical and bilateral, distributed in the periventricular and deep white matter. The anterior temporal lobe and external capsules are predilection sites for WMHs, with higher specificity and sensitivity of anterior temporal lobe involvement compared to an external capsule involvement. Lacunar infarcts are presented by an imaging signal that has intensity of cerebrospinal fluid in all MRI sequences. They are localized within the semioval center, thalamus, basal ganglia and pons. CMBs are depicted as focal areas of signal loss on T2 images which increases in size on the T2*-weighted gradient echo planar images ("blooming effect").

Highlights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary vascular disorder, inherited as an autosomal dominant trait, clinically characterized by a number of following symptoms: migraine with aura, mood disorder, vascular dementia, ischemic stroke and premature death [1,2,3,4]
The clinical diagnosis of CADASIL is based on the following conditions: (1) clinical onset at a specific age (4050 years); (2) absence of stroke risk factors; (3) frequent lacunar infarction episodes gradually leading to pseudobulbar paralysis and dementia; and (4) familial distribution of the disease or similar symptoms [21]
(1) Leukoaraiosis and multiple small infarcts presented bilaterally in deep white matter, basal ganglia, thalamus, and pons on magnetic resonance imaging (MRI); (2) granular and osmiophilic substance layers around the vascular smooth muscles in the brain, skeletal muscle, peripheral nerves, and skin verified by electron microscopy; and (3) NOTCH3 mutations confirmed by DNA analysis [22]

Summary

Introduction

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary vascular disorder, inherited as an autosomal dominant trait, clinically characterized by a number of following symptoms: migraine with aura, mood disorder, vascular dementia, ischemic stroke and premature death [1,2,3,4]. The clinical diagnosis of CADASIL is based on the following conditions: (1) clinical onset at a specific age (4050 years); (2) absence of stroke risk factors; (3) frequent lacunar infarction episodes gradually leading to pseudobulbar paralysis and dementia (migraine, emotional disturbance, cerebral infarction, and dementia in 30 , 20 , 85 , and 30-90 of patients, respectively); and (4) familial distribution of the disease or similar symptoms (autosomal dominant inheritance) [21]. (1) Leukoaraiosis and multiple small infarcts presented bilaterally in deep white matter, basal ganglia, thalamus, and pons on MRI; (2) granular and osmiophilic substance layers around the vascular smooth muscles in the brain, skeletal muscle, peripheral nerves, and skin verified by electron microscopy; and (3) NOTCH3 mutations confirmed by DNA analysis [22].

Results

Conclusion