Abstract
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive condition associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy. Disease-causing mutations have been described in AGPAT2 and BSCL2 genes. Hypertrophic cardiomyopathy is a classical late (third decade) complication which has only been occasionally described in childhood. We report on a 4-month-old Chinese male infant who presented with a severe BSCL "cardiac" phenotype comprising heart failure, hypertension and hypertrophic cardiomyopathy. © 2008 Elsevier Masson SAS. All rights reserved.
Original language | English |
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Pages (from-to) | 14-16 |
Journal | European Journal of Medical Genetics |
Volume | 52 |
Issue number | 1 |
DOIs | |
Publication status | Published - 1 Jan 2009 |
Keywords
- Berardinelli-Seip congenital lipodystrophy
- Hypertrophic cardiomyopathy
- Insulin resistance
- Leptin