The Utility of Factor VIII Infusion in a Rare Case of SHAM Syndrome (P4.343)

Conclusions: Genetic testing confirmed the presence of SHAM syndrome with an 83 kb deletion involving both F8 and BRCC3 genes responsible for severe hemophilia and Moyamoya disease respectively. This case illustrates the first phenotypically and genetically confirmed adult case of SHAM syndrome with intracerebral hemorrhage and highlights the utility/safety of factor VIII infusion in this case.Disclosure: Dr. Roh has nothing to disclose. Dr. Roth has nothing to disclose. Dr. Al-Mufti has nothing to disclose. Dr. Chung has nothing to disclose. Dr. Connolly has nothing to disclose. Dr. Eisenberger has nothing to disclose. Dr. Park has nothing to disclose. Dr. Claassen has received personal compensation for activities with the JSMF Foundation, Actelion, and SAGE Pharmaceutical. Dr. Agarwal has nothing to disclose.

Source: Neurology - April 3, 2016 Category: Neurology Authors: Roh, D., Roth, W., Al-Mufti, F., Chung, W., E. Sander, C., Eisenberger, A., Park, S., Claassen, J., Agarwal, S. Tags: Cerebrovascular Case Reports Source Type: research