Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.
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.
Department of Skin and Sexually Transmitted Diseases, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
Saritha
S
Mohanan
Laxmisha
L
Chandrashekar
Robert K
RK
Semple
Devinder M
DM
Thappa
Narayanan
N
Parameswaran
Vir S
VS
Negi
Sivaranjini
S
Ramassamy
D000052:Acanthosis Nigricans / Q000235:genetics*; D002544:Cerebral Infarction / Q000235:genetics*; D002648:Child; D002987:Clitoris / Q000002:abnormalities; D063169:Dentofacial Deformities / Q000235:genetics*; D056731:Donohue Syndrome / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D010641:Phenotype; D011972:Receptor, Insulin / Q000235:genetics*; D012008:Recurrence
D011972:Receptor, Insulin