Berardinelli - Seip Congenital Lipodystrophy - An infantile presentation
DOI:
https://doi.org/10.32677/IJCR.2015.v01.i01.006Keywords:
Hypertriglyceridemia, Insulin resistance, Lipodystrophy, PhlebomegalyAbstract
Berardinelli – Seip congenital lipodystrophy (BSCL) is an inherited form of generalized lipodystrophy characterized by loss of subcutaneous fat, hypertriglyceridemia, insulin resistance and acanthosis nigricans. Rare cases of BSCL type 2 present during infancy or early childhood. It is caused by mutation in Seipin gene. It is a severe phenotype with premature death occurring in 15% cases. We present such a rare case of BSCL in a five month old infant.
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