A case of leprechaunism with severe hyperinsulinemia.
This report describes an infant with physical features typical of leprechaunism, including a characteristic facies, hirsutism, and decreased subcutaneous tissue and muscle mass. Intermittent hypoglycemia and severe hyperinsulinemia were documented. The patient's insulin was normal in molecular size and biological activity, but its binding to the patient's cultured fibroblasts was profoundly decreased. Insulin antibodies were not present. A literature review has been undertaken to clarify further the clinical, metabolic, and pathological characteristics of this condition.
D001786:Blood Glucose / Q000378:metabolism; D005145:Face; D006801:Humans; D006946:Hyperinsulinism / Q000097:blood / Q000150:complications* / Q000151:congenital / Q000235:genetics / Q000473:pathology; D006965:Hyperplasia; D006983:Hypertrichosis / Q000097:blood / Q000150:complications* / Q000151:congenital / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D007333:Insulin Resistance; D007515:Islets of Langerhans / Q000473:pathology; D008297:Male; D013577:Syndrome
D001786:Blood Glucose