CADASIL syndrome and demyelination: dual pathology? (a case report)

Abstract

CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare hereditary disease affecting the brain associated with a mutation of the NOTCH3 gene on the 19th chromosome. Additional difficulties arise with the comorbidity of CADASIL syndrome with other brain diseases that affect the white matter, for example, multiple sclerosis or similar diseases. In the presented clinical case, in addition to the genetically proven CADASIL syndrome, the patient had symptoms (awkwardness in her right hand, retrobulbar neuritis), which made us suspect a demyelinating disease. Magnetic resonance imaging revealed foci in the white matter of the brain without the accumulation of contrast and without infratentorial and stem foci. The type of synthesis of oligoclonal antibodies has been found to be typical of multiple sclerosis. The level of antibodies to MOG was also slightly increased. To clarify the diagnosis and prescribe the correct treatment, the patient is shown an additional examination.