Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most prevalent (2-5/100.000) and known monogenic cerebral small vessel disease. CADASIL incidence is less well known due to the infrequency and diagnostic challenge of the disease. CADASIL is the result of mutations in NOTCH 3 on the chromosome 19. The pathology of CADASIL is typical of a small cerebral arteries arteriopathy and the result of granular osmiophilic material deposition in close relation to the vascular smooth muscle cells and sometimes in capillaries. CADASIL brain magnetic resonance imaging (MRI) phenotypes are several with some pathognomonic features, such as extensive white matter hyperintensities in the anterior poles of the temporal lobes and external capsule along with T1 hypointensities in subcortical white matter suggestive of lacunar strokes.

We report a case of newly diagnosed CADASIL and chronic scleroderma disease. The CADASIL genotype is a positive notch3 c.3062A>G; p. Tyr1021Cys heterozygous missense mutation. The novelty of this case is a different neuroimaging pattern of CADASIL, an “encephalitic-like brain MRI phenotype”, not previously reported and characterized by the presence of bilateral confluent medial temporal lobe hyperintensities, predominantly on FLAIR and T2 weighted brain MRI images. This new pattern is seen in addition to the extensive white matter disease in the anterior poles of the temporal lobes, periventricular, subcortical and external capsule. The clinical phenotype of this CADASIL case manifests primarily with complicated migraines, with and without visual aura, sensory symptoms, and occasional mild, transient, memory difficulties and family history of dementia.

Keywords: CADASIL; Migraine Headaches; Visual Aura; Brain MRI; Temporal Lobe Hyperintensities; Encephalitis; Dementia; Notch 3

References

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Citation

Citation: Rodica Elena Petrea. "Novel Neuroimaging “Encephalitic-Like Brain MRI Phenotype” in a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)".Acta Scientific Neurology 3.1 (2020): 03-08.

Copyright

Copyright: © 2020 Rodica Elena Petrea. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.