Abstract
Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications. Here, we describe a 10-year-old girl with genetically proven Berardinelli Seip congenital generalized lipodystrophy type 2, diagnosed at 10 months of age. She developed comorbidities like proteinuria, hypertension, diabetes mellitus, and liver fibrosis.
MeSH terms
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Child
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Diabetes Mellitus / physiopathology
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Disease Progression
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Female
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Genetic Predisposition to Disease*
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Humans
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Hypertension / complications
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Hypertension / diagnosis*
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Hypertension / drug therapy
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India
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Insulin Resistance
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Lipodystrophy, Congenital Generalized / diagnosis*
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Lipodystrophy, Congenital Generalized / genetics
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Lipodystrophy, Congenital Generalized / therapy*
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Liver Cirrhosis / complications
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Liver Cirrhosis / physiopathology
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Rare Diseases
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Severity of Illness Index