Differential diagnosis of multiple sclerosis, is Moyamoya in?

Background and purpose: The pleomorphic presentation of multiple sclerosis underscores the importance of the differential diagnosis with several other pathologies, namely cerebral vascular disease. Summary of case: A 37-year-old woman without any previous relevant pathology presented 3 years ago with two episodes of motor deficit. The first on the right upper extremity with improvement following rehabilitation and a second with left hemiparesis also with improvement in less than a week. After routine etiological investigation and with a brain MRI suggestive of multiple sclerosis the patient initiated β-interferon remaining symptom free. Present day examination revealed bilateral loss of hand dexterity, decreased paleasthesia on the inferior limbs and hyperactive reflexes on the left with a left Babinski response. MRI of the brain showed multiple bilateral T2 lesions in the periventricular white matter. Significantly, there was no infra-tentorial or corpus callosum involvement. There was also no associated restricted diffusion. CSF analysis was normal. Based on this findings and with positive familiar history for Moyamoya the patient underwent a four-vessel angiogram that demonstrated bilateral ICA occlusion with formation of distal collateral circulation through extra-cranial and posterior circulation, consistent with Moyamoya disease. Conclusion: Moyamoya disease should be considered in multiple sclerosis differential especially with atypical imaging findings on MRI. Also, the improvement experienced with imunomodulatory treatment highlights the need to better understand the pathophysiology of Moyamoya disease.