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Inherited disorder with hyperinsulinemia caused by insulin resistance combined with lipodystrophy and acromegaloid features.

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Berardinelli-Seip-Lawrence Syndrome; Berardinelli Syndrome; Seip Syndrome; Seip-Lawrence Syndrome; Congenital Generalized Lipodystrophy; (Congenital) Lipoatrophic Diabetes; Lipodystrophy-Acromegaloid Gigantism Syndrome.

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Estimated prevalence is 0.2-0.3:100,000 in the general population.

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Autosomal recessive disorder. Two genetic loci (11q13 and 9q34) are associated with the syndrome.

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No unifying pathogenetic mechanism has been identified. The insulin receptor seems to be normal.

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Based on the clinical picture, including hyperinsulinemia and in some cases a positive family history. Berardinelli-Seip syndrome commonly refers to the congenital form of generalized lipodystrophy, whereas Seip-Lawrence syndrome usually refers to the acquired form (in which the anabolic syndrome is more variable and immunologic disturbances more common; see also Other Conditions to Be Considered).

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Hallmarks of Berardinelli-Seip syndrome are a near-absent adipose tissue present already at birth or in early infancy and a congenital (nonketoacidotic) insulin resistance with variable degrees of glucose intolerance and diabetes mellitus. The insulin resistance with hyperinsulinemia results in an anabolic syndrome resulting in increased growth velocity, advanced bone age, muscular hypertrophy and masculine body build, acromegaloid stigmata, enlarged genitalia in infancy (labial hypertrophy and sexual precocity, polycystic ovaries), abundant scalp hair and hypertrichosis, and organomegaly (often with visceral organs showing twice the normal weight). The anabolic syndrome is further exacerbated by a voracious appetite. Associated features are liver cirrhosis, esophageal varices, and hypertriglyceridemia with risk of pancreatitis. Acanthosis nigricans, which is variable but often marked and extensive, seems to be a constant sign of Berardinelli-Seip syndrome (as seen in other syndromes with pronounced insulin resistance). It is most often located in the extensional areas (elbows, knees) and in places exposed to wear and tear (axilla, neck, waist). Scoliosis and cystic bone lesions are found in some patients. Mental retardation is not a constant feature but is present in approximately 50% of patients. Cardiovascular involvement (arterial hypertension, hypertrophic cardiomegaly, coronary heart disease) is the leading cause of early death. Medical management consists of moderate restriction of caloric intake (preferably with short-chain fatty acids), insulin as indicated, and antihyperlipidemic drug therapy.

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No reports describing anesthesia in these patients have been published. However, two features require special attention: diabetes mellitus and cardiovascular involvement. The latter rarely causes problems in childhood, but the risk of coronary ischemia must be considered in young adult patients. If in doubt, at least a chest radiograph and electrocardiogram should be obtained, and chronic cardiac medication must be evaluated. Abrupt discontinuation of angina pectoris medication can precipitate an ischemic episode. Assess hepatic and pancreatic function preoperatively.

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Management of the metabolic and cardiovascular derangements follows standard approach. If there are any signs of coronary heart disease, attention should be paid to provide adequate sedation and analgesia. Any increase in myocardial oxygen demand should be avoided (increase in afterload, contractility, or heart rate). Toddlers are at increased risk for developing ...

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