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Year : 2019  |  Volume : 67  |  Issue : 4  |  Page : 1171--1173

MRI Findings in a Case of Genetically Proven CADASIL with Emphasis on Differential Diagnosis

Suganya Subbulakshmi, Garg P Rattanlal, Devanand, Rajakumar 
 Department of Radiology, PSGIMSR, Coimbatore, Tamil Nadu, India

Correspondence Address:
Dr. Garg P Rattanlal
Department of Radiology, PSGIMSR, Coimbatore, Tamil Nadu

How to cite this article:
Subbulakshmi S, Rattanlal GP, Devanand, Rajakumar. MRI Findings in a Case of Genetically Proven CADASIL with Emphasis on Differential Diagnosis.Neurol India 2019;67:1171-1173

How to cite this URL:
Subbulakshmi S, Rattanlal GP, Devanand, Rajakumar. MRI Findings in a Case of Genetically Proven CADASIL with Emphasis on Differential Diagnosis. Neurol India [serial online] 2019 [cited 2019 Oct 13 ];67:1171-1173
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Full Text


Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare autosomal dominant hereditary cerebral angiopathy characterized by early onset recurrent strokes, migrainous headaches, cognitive deficits, and psychiatric symptoms. Mutations in the NOTCH 3 gene on chromosome 19 have been implicated as a causative factor. CADASIL should always be considered as a differential diagnosis in cases of young strokes and can be ruled out on the basis of typical magnetic resonance imaging (MRI) findings.

A 32-year-old male patient presented with complaints of a short duration of loss of speech, drooling of saliva, hiccups, and urinary incontinence. No other neurological deficit could be appreciated on physical examination. The work-up of young stroke, that is, serum ceruloplasmin level, anticardiolipin antibody, lupus anticoagulant, and antinuclear antibodies was normal.MRI showed confluent T2/fluid-attenuated inversion recovery (FLAIR) hyperintensities in bilateral periventricular white matter, corona radiate, and centrum semi ovale showing diffusion restriction [Figure 1] and [Figure 2]. There was no post-contrast enhancement. White matter hyperintense foci were also seen in the bilateral anterior temporal lobe [Figure 3]. On MRI, the possibility of CADASIL was raised considering the typical distribution of white matter changes. When retrospectively evaluated, family history revealed that his mother and maternal uncle died due to ischemic cerebrovascular disease and his aunt was currently getting treatment for stroke. Genetic analysis was done that revealed that the patient had a heterozygote p.C144S mutation in the NOTCH 3 gene.{Figure 1}{Figure 2}{Figure 3}

CADASIL seems to be the most common cause of hereditary arteriopathy affecting small arteries and resulting in dementia and disability.[1] The presentation is usually in young patients. The incidence of this disease in the Indian subpopulation is unknown due to the lack of adequate genetic work-up of patients with suspected CADASIL, even though the western literature quotes an incidence of about 4.15 per 100000,[2] accounting for 2% of the cases of leukariosis under the age of 65 years and approximately11% under the age of 50 years.[3]

Clinically, they can present with migraine with aura, subcortical ischemic events, mood disturbances, and apathy and cognitive impairment and dementia. The earliest and most frequent abnormalities are punctiform or nodular areas of increased signal in periventricular areas and in the centrum semiovale on T2-weighted imaging (T2WI) or FLAIR. Later these become more diffuse, are mostly symmetrical, and mostly occur in the external capsule and the anterior part of the temporal lobes—a location highly suggestive of CADASIL. Basal ganglia and thalamus are also affected along with, on occasion, the brainstem and corpus callosum.

In young patients, multiple sclerosis (MS) may clinically mimic CADASIL; however, a significant family history may prove helpful. On MRI, differentiating between the two may be very difficult because both have white matter hyperintensities; however, the involvement of anterior temporal lobe, external and internal capsule with relative sparing of corpus callosum and cerebellum, and presence of lacunar infarcts in CADASIL usually provide adequate evidence. In acute phases, MS plaques may show an open ring type of enhancement.[4]

CADASIL in older patients may mimic Binswangers disease; however, the typical anterior temporal lobe involvement, age, and history of hypertension are diagnostic. In Binswanger's disease, T2WI hyperintensities are irregular and grouped around the frontal and occipital horns and in centrum semiovale, along with cerebral atrophy and lacunar infarcts.[5]

Mitochondrial disease has typical presentations of peripheral abnormalities of neuropathy and myopathy. On MRI, multiple infarcts of varying ages and in differing arterial territories, with the presence of lactate on magnetic resonance spectroscopy is often noted.

Susac disease is a rare microangiopathic disease that affects the brain, retina, and cochlea. Clinically, they present with sensorineural deafness, and on MRI T2Whyperintensities are seen in corpus callosum, cerebellum, and midbrain.

In vasculitis, imaging findings vary from small ischemic changes to frank infarction, hemorrhage, and white matter edema and may show contrast material enhancement. The cerebral arteries may demonstrate a beaded appearance and contrast enhancement of the vessel wall.

Anterior temporal white matter involvement appears to be the most consistent findings which along with early age of presentation clinches the diagnosis. Confirmation of CADASIL is by skin biopsy and genetic testing. However, it is a time consuming process and is expensive, and hence should be only selectively performed for those with typical MRI features.

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