Abstract General Information

Title

Rare case of sporadic CADASIL and the differential diagnosis with Multiple Sclerosis – Case Report

Abstract

Case: Female, 45 years old. 02 years ago, the patient started a condition of "body tremor", characterized by difficulty walking and incoordination in the left side, slowly progressive, without the characteristic of outbreaks. In addition, the husband reports that the patient is slower in processing speed, cannot perform simple calculations and is more dependent on the period. She sought medical advice where she was initially diagnosed with relapsing-remitting multiple sclerosis and prescribed disease-modifying treatment. ISDA: has episodes and migraine-type headache. AP: Denies episodes of optic neuritis, surgeries and hospitalizations; Neurological examination: Gait with dysbasia; Muscle Strength Grade 4+/5 in right hand and Grade 4-/5 in left hand; 5/5 globally in other respects. Osteotendinous reflexes 4+/4+ with bilateral Babinski sign. Dysmetria on the index-index test with severe excitation on the left. Sensitivity preserved. CSF: Negative BOC. Brain MRI: Extensive confluent hyperintense lesions on T2 and FLAIR are observed that affect the periventricular and subcortical white matter bilaterally. No infratentorial lesions are observed. Genetic Test: heterozygosis the c.1594C>T in the NOTCH3 gene. Discussion: CADASIL presents a rare cause of cognitive decline and is often overlooked in diagnosis, except in cases of high clinical suspicion in a familial course. Access to imaging tests becomes fundamental for the diagnostic segment and genetic testing is essential for etiological elucidation and family planning. Conclusion: Multiple Sclerosis (MS) is an inflammatory disease of the central nervous system, and individuals with CADASIL may be diagnosed with other conditions, including MS. both diseases, this condition being rare, and the mutation present and the activity of the demyelinating disease must exist, it being possible that the inflammatory components in this case are the result of activations of the immune system, with the benefit of treating such patients with disease-modifying medications