World Neurosurg
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Case Reports
Intracranial vessel stenosis in a young patient with an MYH11 mutation: A case report and review of two prior cases.
The MYH11 gene codes for smooth muscle myosin heavy chain, which has a critical function in maintaining vascular wall stability. Patients with this mutation most commonly have aortic and cardiac defects. Documented involvement of intracranial vessels is exceptional. ⋯ Intracranial vessel involvement in patients with MYH11 mutations is rare. Vigilant cerebrovascular monitoring should be practiced in this population to guide appropriate management. Reporting of similar cases is important to improve understanding of the development of idiopathic intracranial stenosis in young individuals.
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Moyamoya syndrome (MMS) in patients with sickle cell disease (SCD) accentuates the risk of recurrent strokes. Chronic transfusion therapy (CTT) is an excellent option for preventing recurrent strokes in most patients with SCD. In SCD with MMS, CTT may fail as a long-term solution. ⋯ Our short series of 4 patients also had a good outcome and no recurrence of strokes postoperatively. The literature emphasizes the use of a traditional standardized protocol for early identification (transcranial Dopplers, selective magnetic resonance angiography, and CTT). Early treatment and screening that involves early magnetic resonance angiography and referral to neurosurgery for revascularization may be considered for this high-risk population.