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Misdiagnosis of Moyamoya Disease as Multiple Sclerosis Variants in a Case Series of Seven Patients

Omar Choudhri MD; Teresa Bell-Stephens RN; Robert M. Lober MD PhD; Nancy Fishbein; Gary K. Steinberg MD, PhD

Introduction

Multiple sclerosis is a relatively common demyelinating condition of the brain and spinal cord that can present insidiously with multiple neurological symptoms.Some multiple sclerosis symptoms could be mimicked by transient ischemic attacks in the setting of a vasculopathy such as moyamoya disease.

Moyamoya disease is an idiopathic chronic cerebrovascular disorder, characterized by progressive occlusion of vessels comprising the circle of Willis and clinical presentation can vary depending on the ischemic territory. Here we present a series of patients managed as having multiple sclerosis for many years before being correctly diagnosed with moyamoya disease.

This study investigates the radiographic, laboratory and clinical overlap between the two clinical entities and outcomes after surgical revascularization.

Methods

Seven patients found in retrospective review of the 448 patients in the Stanford Moyamoya Database from 1991-2010 to have initial diagnosis of multiple sclerosis on presentation. MRI imaging, angiograms, CSF results and clinical follow-up data were reviewed.

Results

Male : Female ratio of our patients was 1:6 which correlates with female preponderence in both conditions. The average age of patientsmwas 35 years and duration of diagnosis for presumed multiple sclerosis varied between 6 months to 20 years. Extremity paresthesia was the most common neurological symptom in these patients. MRI periventricular FLAIR or T1 changes were the most common diagnostic clue to multiple sclerosis and a repeat MR angiogram or formal angiogram subsequently confirmed the diagnosis of moyamoya disease.

Greater than 60% of patients had improvement of their neurologic symptoms following cerebral revascularization.

Conclusions

We believe that moyamoya disease should be considered in multiple sclerosis variants who present with paresthesias and do not respond to traditional immunosuppressive therapies.

Early diagnosis and revascularization procedures could help prevent further neurologic sequelae. Furthermore, subtle MRI findings should suggest obtaining a CTA/MRA or a formal angiogram to identify moyamoya vessels.

Lyon wrote:Thanks Ian. As you are aware, I'm elderly and have lived a good life. My intended legacy is to leave young whippersnappers like you a better world where Tysabri flows freely and searching "ccsvi" on the internet leads you to a roofing company.

Lyon wrote:Isn't that as much saying that only 7 of 448 MS patients in that study had venous occlusions and at the same time not addressing how many of 448 controls would have had venous occlusions?

Lyon wrote:

Methods

Seven patients found in retrospective review of the 448 patients in the Stanford Moyamoya Database from 1991-2010 to have initial diagnosis of multiple sclerosis on presentation. MRI imaging, angiograms, CSF results and clinical follow-up data were reviewed.

I think you're right Frodo, thanks!

Lyon wrote:

jgkarob wrote: I'm with you Lyon.

Thanks jg, welcome to the merry band. Things are starting to feel like the early pages of a Stephen King novel. I hope we find along the way that some of you have hidden powers because, to my knowledge, my chief skill is snacking and spending countless pointless hours on the internet