Berardinelli-Seip Syndrome

Dal, Sameer I and Patel, Hitesh (2011) Berardinelli-Seip Syndrome. [Journal (On-line/Unpaginated)]

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We have reported two cases of Berardinelli-syndrome in a family which is a rare autosomal recessive disorder of the adipose tissue, originally described by Berardinelli and Seip, has been reported in approximately 120 patients of various ethnic origins. Assuming that only 1 in 4 patients is reported.Patients present with acanthosis nigricans (dark velvety pigmentation of the skin) in the axilla, neck or groin, severe insulin resistance, high levels of serum insulin and serum triglycerides.The other clinical features consist of enlarged hands, feet and prominent mandible (acromegaloid features), increased sweating, umbilical hernia and lytic lesions (bone appear to be eaten-up on X-rays) in long bones of the upper and lower extremities (arms, forearm, hands, thigh, calf, legs and feet) such as humerus, femur, etc. Hepatomegaly from fatty liver is almost universal and may ultimately lead to cirrhosis. Splenomegaly is common. Nearly all patients have a prominent umbilicus or frank umbilical hernia. Females present with enlarged clitoris, increased body hair, absence of or irregular menstrual cycles, and polycystic ovaries (enlarged ovaries). Only a few affected women have had successful pregnancies, whereas affected men have normal fertility

Item Type:Journal (On-line/Unpaginated)
Keywords:Berardinelli-Siep syndrome; Lipodystrophy
Subjects:JOURNALS > Online Journal of Health and Allied Sciences
ID Code:7275
Deposited By: Kakkilaya Bevinje, Dr. Srinivas
Deposited On:02 May 2011 17:15
Last Modified:02 May 2011 17:15

References in Article

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