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Related Experiment Videos

Congenital generalized lipodystrophy, a case report

S Wacharasindhu1, K Veerakul, S Likitmaskul

  • 1Department of Pediatrics, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

The Southeast Asian Journal of Tropical Medicine and Public Health
|January 1, 1995
PubMed
Summary

Generalized lipodystrophy, also known as Lawrence-Seip syndrome, is a rare genetic disorder. This report details a case in a young Thai girl, highlighting abnormal platelet function.

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Generalized lipodystrophy is a rare condition with congenital and acquired forms.
  • Congenital generalized lipodystrophy (Lawrence-Seip syndrome) is autosomal recessive, presenting early with characteristic features.
  • Key diagnostic criteria include fat loss, muscular hypertrophy, acanthosis nigricans, hirsutism, hepatomegaly, hyperlipidemia, and insulin resistance.