Case study on a patient with CADASIL focusing on the clinical course, diagnosis, imaging findings and follow up of a patient at a major tertiary hospital with established Neuroradiology service. Focus on the imaging findings and review of the pathophysiology, disease process, prognosis and incidence in these patients. Pictorial representation of clinical course with MR and CT correlation.

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukencephalopathy (CADASIL) is a an inherited small-artery disease characterised by progressive ischaemic neurodegeneration. CADASIL is inherited in an autosomal dominant pattern, through mutations in the NOTCH3 gene on chromosome 19.2 The NOTCH3 gene is responsible for encoding the neurogenic locus notch homolog protein-3 membrane receptor, which are found in systemic vascular smooth muscle cells.3 Upon ligand binding, the notch-3 transmembrane receptor undergoes proteolytic cleavage, producing both an extracellular and intracellular receptor fragment. The intracellular fragment is...

PATIENT FINDINGS AND CLINICAL COURSE: We introduce a three-year follow up of a 17-year-old patient with eventual biopsy proven CADASIL. A total five MRI examinations were performed over this time period, with a CT examination performed in the emergency setting. All MR evaluations were performed on a 3T Magnetom Skyra MRI, with studies either primary reported or finalised by a Neuroradiology consultant. The patient was reviewed in the inpatient setting post elective surgery for new focal neurology. Examination revealed new left sided hemineglect, left sided...

CADASIL is an important entity in the young patient with WMH (white matter hyperintensities) and a complex disorder which may mimic other pathologies including ischemic stroke. An understanding on the disease process, incidence and MRI findings is crucial to appropriate patient managment and follow up.

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