A case of Berardinelli-Seip syndrome presenting clinical with cirrhosis
| Autor: | H Wimalaratna, A S D Nandasiri |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Pathology
medicine.medical_specialty Pediatrics Cirrhosis medicine.diagnostic_test business.industry General Medicine medicine.disease Education Insulin resistance medicine.anatomical_structure Congenital lipodystrophy Berardinelli-Seip syndrome Medicine Young adult business Liver function tests Pancreas Lipoatrophy |
| Zdroj: | Journal of the Royal College of Physicians of Edinburgh. 43:309-311 |
| ISSN: | 2042-8189 1478-2715 |
| DOI: | 10.4997/jrcpe.2013.406 |
| Popis: | Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence of functioning adipocytes, with lipid being stored in muscles, the liver and the pancreas. The usual presentation is in adulthood, with manifestations of insulin resistance, hypertriglyceridaemia and liver steatosis. Cirrhosis as the first presentation of BSCL in a young adult is rare. We describe a patient with BSCL presenting with cirrhosis. To the best of our knowledge this is the first case of BSCL reported in a Sri Lankan patient. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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