Imaging Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL)

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").

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Different clinical features in a family – A case report

“…This is the most important MRI parameter that correlates with the degree of cognitive impairment. Cerebral microbleedings are registered on T2 sequences and T2* in 30 -70% of patients, most commonly in the thalamus but also in the cortex, subcortically, in the white matter and brainstem, usually outside ischemic lesions [9]. CADASIL is primarily a subcortical disease, and recent studies using 7T MRI recorded changes in the cortex in the form of microinfarctions and initial diffuse cortical changes [4].…”

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a case report and review

“…There generally is a less severe lesion load in the occipital lobe as well as relative sparing of the arcuate fibers and cortex. The predilection of white matter hyperintensity on T2 or FLAIR MRI within the anterior temporal lobe and external capsule is considered pathognomonic and can help differentiate CADASIL from other forms of small vessel disease 9 .…”

“…Lacunar infarcts are commonly found in the semioval center, thalamus, basal ganglia, and pons 9 . Lacunar infarct load is the most important imaging parameter associated with cognitive decline 10 .…”

Ensayo pictórico: Diagnóstico diferencial radiológico en Esclerosis Múltiple

“…El tratamiento es básicamente neuroprotección. Imagenológicamente puede parecerse a la distrofia miotónica tipo 1 o enfermedad de Steinert, sin embargo, la presentación clínica y ciertas características en imágenes, como respeto de tálamo y ganglios de la base, prominente atrofia cerebral, ausencia de infartos lacunares y atrofia de los grupos musculares visibles, más notorio en la musculatura masticatoria, permiten su diferenciación (11,13) .…”