Funding: RKS is funded by the Wellcome Trust.
Rabson–Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation
Article first published online: 24 JAN 2013
© 2013 The International Society of Dermatology
International Journal of Dermatology
Volume 52, Issue 2, pages 182–185, February 2013
How to Cite
Mohanan, S., Chandrashekar, L., Semple, R. K., Thappa, D. M., Parameswaran, N., Negi, V. S. and Ramassamy, S. (2013), Rabson–Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation. International Journal of Dermatology, 52: 182–185. doi: 10.1111/j.1365-4632.2012.05665.x
Conflicts of interest: None.
- Issue published online: 24 JAN 2013
- Article first published online: 24 JAN 2013
Rabson–Mendenhall syndrome (RMS) is an autosomal recessive disorder characterized by extreme insulin resistance and certain characteristic phenotypic features. The primary defect lies in the insulin receptor and involves biallelic mutations that lead to a loss of function through various postulated defects. We present a 9-year-old female patient with RMS complicated by multiple cerebral infarcts, in whom genetic analysis revealed a novel insulin receptor mutation.