Rare Ocular Complication in a Patient with Rabson-Mendenhall Syndrome
نویسندگان
چکیده
منابع مشابه
Renal manifestations of severe Rabson-Mendenhall syndrome: a case report
INTRODUCTION Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. CASE PRESENTATION We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephrome...
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BACKGROUND Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. The management of this condition is extremely challenging and will need multi-disciplinary appro...
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rabson-mendenhall syndrome is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia, postprandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. herein, we described a 10- year-old girl with physical f...
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BACKGROUND Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAV) is a rare disorder in which the facial and vertebral anomalies are frequently associated with cardiac and pulmonary defects. The syndrome was first described by Dr. Maurice Goldenhar in 1952. The abnormalities usually involve one side of the body, and may range from mild to severe. While the deformities of the ...
متن کاملTwo Novel Insulin Receptor Gene Mutations in a Patient with Rabson-Mendenhall Syndrome: The First Korean Case Confirmed by Biochemical, and Molecular Evidence
Rabson-Mendenhall syndrome (RMS) is a rare syndrome manifested by extreme insulin resistance with hyperinsulinemia, acanthosis nigricans, tooth dysplasia and growth retardation. Our patient was first noted at the age of 8 months due to pigmentations on skin-folded areas. Initial laboratory tests showed normal fasting glucose (69 mg/dL). Fasting insulin level was severely elevated, up to 554.6 µ...
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ژورنال
عنوان ژورنال: The Indian Journal of Pediatrics
سال: 2020
ISSN: 0019-5456,0973-7693
DOI: 10.1007/s12098-020-03433-6