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Rabson–Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation

Authors

  • Saritha Mohanan MD,

    1. Department of Skin and Sexually Transmitted Diseases, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India
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  • Laxmisha Chandrashekar MD,

    1. Department of Skin and Sexually Transmitted Diseases, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India
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  • Robert K. Semple MD,

    1. Department of Clinical Biochemistry, University of Cambridge, Cambridge, UK
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  • Devinder M. Thappa MD,

    1. Department of Skin and Sexually Transmitted Diseases, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India
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  • Narayanan Parameswaran MD,

    1. Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India
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  • Vir S. Negi MD, DM,

    1. Department of Clinical Immunology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India
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  • Sivaranjini Ramassamy MBBS

    1. Department of Skin and Sexually Transmitted Diseases, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India
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  • Funding: RKS is funded by the Wellcome Trust.

  • Conflicts of interest: None.

Laxmisha Chandrashekar, md
Department of Skin and Sexually Transmitted Diseases
Jawaharlal Institute of Postgraduate Medical Education and Research
Dhanvantri Nagar
Puducherry 605006
India
E-mail: laxmishac@gmail.com

Abstract

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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