Generalized Lipodystrophy.
نویسندگان
چکیده
منابع مشابه
Congenital Generalized Lipodystrophy in a Youth Presented with Sclerotic and Lytic Bone Lesions; a Family with AGPAT2 Mutation
BackgroundCongenital generalized lipodystrophy (CGL) is a rare disease. It is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.Case PresentationWe report a 25- year- old female with 1-Acylglycerol-3-phosphate-O-acyltransferase 2 (APGAT2) mutation, and both sclerotic and lytic bone lesions together for the first time. Bone cyst i...
متن کاملWhole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient
Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Methods: The proband showed a gener...
متن کاملCongenital 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 کاملDetermining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.
PURPOSE We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy. METHODS A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included. ...
متن کاملClinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.
Context Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue. Objective We conducted a systematic review to synthesize data on clinical and metabolic features of lipodystrophy (age at onset, < 18 years). Data Source Sources included Medline, Embase, Cochrane Library, Scopus and Non-Indexed Citations from inception through January 2016. Study Select...
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عنوان ژورنال:
- Ergebnisse der inneren Medizin und Kinderheilkunde
دوره 31 شماره
صفحات -
تاریخ انتشار 1963