report of congenital generalized lipodystrophy in children's medical center, tehran, iran
نویسندگان
چکیده
generalized lipodystrophy is a rare disorder in children characterized by absence of subcutaneous adipose tissue. we evaluated 10 patients with generalized lipodystrophy by skin and liver biopsy. eight patients with steatohepatitis and cirrhosis were treated with ursobile (uorsodeoxycholic acid) and vitamin e. in follow-up, serum triglyceride level was decreased.
منابع مشابه
Congenital generalized lipodystrophy.
Clinical features of congenital generalized lipodystrophy, a rare disorder, first described by Zeigler include loss of subcutaneous fat, hepatomegaly, increased bone growth, hyperlipaemia and, later, diabetes. The inheritance is probably autosomal recessive. Generalized lipodystrophy may involve the diencephalon. A probable defect in the hypothalamus may lead to increased levels of hypothalamic...
متن کامل[Congenital generalized lipodystrophy].
OBJECTIVE To present the major clinical and biochemical characteristics of congenital generalized lipodystrophy. DESCRIPTION Eight infants with congenital generalized lipodystrophy were identified at the Endocrine and Nutritional Pediatric Disease Outpatient Clinics at Hospital de Clínicas, Universidade Federal de Minas Gerais (UFMG). Clinical manifestations common to all patients included mu...
متن کاملCardiac Manifestations of Congenital Generalized Lipodystrophy
IN BRIEF Congenital lipodystrophy is a rare genetic disorder characterized by a near-complete absence of fat cells, hypoleptinemia leading to a voracious appetite, and marked insulin resistance. This article focuses on the known cardiovascular manifestations of patients with congenital lipodystrophy, including cardiomyopathy, cardiac arrhythmias, and accelerated atherosclerosis arising from a m...
متن کاملCongenital Generalized Lipodystrophy: A Multisystemic Metabolic Disorder
Loss of fatty tissue occurring in a partial or generalized distribution is called as lipodystrophy. Generalized lipodystrophy may be congenital or acquired in nature. Congenital generalized lipodystrophy or Berardinelli-Seip syndrome is a rare autosomal recessive multisystem disorder characterized by the near absence of subcutaneous and visceral adipose tissue from birth or early infancy with s...
متن کاملLiver Storage Disease in Iran: A Ten Year Study of Liver Biopsies in Children Medical Center Hospital in Tehran-Iran
BACKGROUND Liver storage diseases are rare biochemical and inherited diseases that affect multiorgan systems. OBJECTIVES This study was performed to determine the rate of storage diseases and their types in liver pathology specimens of subjects who were referred to a tertiary pediatric center. PATIENTS AND METHODS Two pathologists evaluated 2216 pathology specimens (stained with hematoxylin...
متن کاملCase Report: Berardinelli-Seip congenital generalized lipodystrophy - A case report and literature review
Congenital generalized lipodystrophy (GLD) is a rare autosomal recessive disease characterized by near absence of adipose tissue from birth or early infancy and severe insulin resistance. Since Berardinelli described a very rare case of congenital generalized lipodystrophy, nearly 120 cases have been reported in the literature. We report a case of GLD which, to the best of our knowledge, is the...
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عنوان ژورنال:
گوارشجلد ۱۰، شماره ۴، صفحات ۲۴۱-۰
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