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Journal Article
Research Support, Non-U.S. Gov't
Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.
International Journal of Dermatology 2013 Februrary
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.
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