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Berardinelli-Seip congenital generalised lipodystrophy (BSCGL) is an extremely rare autosomal recessive disorder characterised by congenital absence of functional adipocytes causing lipoatrophy, dyslipidemia and fat maldistribution [1]. Fat deposited in liver, heart and muscle result in stetosis-induced cirrhosis, cardiac failure, insulin resistance and diabetes mellitus. We report two additional findings of aortic stenosis, and testicular microlithiasis in a Sri Lankan boy who fulfilled the clinical and metabolic diagnostic criteria of BSCGL.

Two unusual features in a child with Berardinelli-Seip congenital generalised lipodystrophy