Presentation
Confusion and unsteady gait.
Patient Data
Selected axial CT image of the head without IV contrast demonstrates periventricular white matter hypodensities and small ill-defined rounded hypodensities. More superiorly, at the level of the centrum semiovale, further periventricular white matter hypodensities are present. There are ill-defined hypodensities involving bilateral temporal horns. No evidence of intracranial hemorrhage.
Axial T1-weighted MR image of the brain demonstrates non-specific patchy white matter hypointensities at the level of the centra semiovale. Axial T2-weighted MR image of the brain demonstrates non-specific patchy white matter hypointensities at the level of the centra semiovale. There is mild generalized brain volume loss.
Axial gradient echo MR image of the brain demonstrates no susceptibility to suggest the presence of blood products.
Axial FLAIR MR image of the brain demonstrates patchy hyperintensities without a specific vascular geographic preference at the level of the septum pellucidum. There are also small periventricular cystic spaces suggestive of chronic lacunar infarcts. There is sparing of the internal capsules bilaterally. At the level of the centra semiovale, images demonstrate patchy hyperintensities without a specific vascular geographic preference. Near the cranial apex, images demonstrate patchy hyperintensities without a specific vascular geographic preference. The abnormal FLAIR signal spares the subcortical U-fibers.
The patient was determined to have a mutation of the NOTCH3 gene, certifying the diagnosis of CADASIL.
Case Discussion
This case demonstrates a young patient presenting with non-specific symptoms who was found to have a NOTCH3 mutation, confirming a diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts (CADASIL). Interestingly, there was suspicion of an underlying process, such as CADASIL, when the initial imaging demonstrated microvascular changes involving the temporal horns, which is atypical for chronic microvascular disease related to aging.
CO-AUTHORS: Daniel Nichols, Mazurique Malan MD
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