Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Headaches and confusion in 55F • Xray of the Week 2016 • Week #3

This 55 year old Hispanic female with past medical history of type 2 diabetes, hypertension, and hyperlipidemia, presented with 3 days of headaches and confusion. An MRI brain was performed, and due to the findings, genetic testing was performed. A mutation on chromosome 19q12 involving the Notch 3 gene was discovered. What is the diagnosis?

Figure 1. CADASIL A: MRI- FLAIR axial image shows symmetric T2 hyperintensities in the anterior temporal lobes. B: MRI- DWI axial image shows no acute infarct.

Figure 2. CADASIL Patient #2 A: MRI- FLAIR axial image shows symmetric T2 hyperintensities in the anterior temporal lobes in patient #2. B: MRI- FLAIR axial image shows confluent symmetric white matter T2 hyperintensity changes in patient #2.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an autosomal dominant condition which has an onset of symptoms between ages 30 to 50. [1,2] The gene mutation causes small vessel and arteriole stenosis as a result of fibrotic thickening of the basement membrane of the vessels. Symptoms are non-specific but may include weakness, dementia, focal neurological defects, and seizures due to recurrent transient ischemic attacks (TIA's). [1,2,3] On MRI, the anterior temporal lobes are affected up to 86% of the time [Fig. 1] and the external capsule is affected in up to 93% of cases at presentation. There are often confluent white matter regions of increased signal intensity on T2 weighted images, with a predilection for the anterior temporal lobe [Fig 2]. More circumscribed lesions may also be visualized in the basal ganglia, thalamus and pons; however, there is usually sparing of the cortex and subcortical U-fibers. [1,2] Treatment is supportive, and prognosis is poor as symptomatology is progressive. [1,3]

References:

1. Yousry TA, Seelos K, Mayer M et-al. Characteristic MR lesion pattern and correlation of T1 and T2 lesion volume with neurologic and neuropsychological findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). AJNR Am J Neuroradiol. 1999;20 (1): 91-100.

2. Auer DP, Pütz B, Gössl C et-al. Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison. Radiology. 2001;218 (2): 443-51.

3. Bohlega S, Al Shubili A, Edris A et-al. CADASIL in Arabs: clinical and genetic findings. BMC Med. Genet. 2007;8 : 67.

4. Lotz PR, Ballinger WE, Quisling RG. Subcortical arteriosclerotic encephalopathy: CT spectrum and pathologic correlation. AJR Am J Roentgenol. 1986;147 (6): 1209-14.

Danielle Rice, MD is a neurohospitalist at Gottlieb Memorial Hospital, a part of Loyola University Health System. Dr. Rice graduated cum laude from Kent State University and earned her medical degree from Northeastern Ohio Universities College of Medicine. Dr. Rice completed a residency in adult neurology from Rush University Medical center and a fellowship in multiple sclerosis from the University of Chicago. Dr. Rice is board certified in Neurology and is an assistant professor in the Department of Neurology of Loyola University Chicago Stritch School of Medicine.

Kevin Rice, MD is president of Global Radiology CME.

Follow Dr. Kevin Rice on Twitter @KevinRiceMD

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