Type 2 Congenital Generalized Lipodystrophy: The Diagnosis is in Your Hands
نویسندگان
چکیده
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 کاملProgressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review
PURPOSE A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized Lipodystrophy type 2 (CGL2) related to novel Seipin mutations. METHODS The EEG-clinical picture was ev...
متن کاملCongenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by the loss of body fat. The global prevalence of CGL is one in 10 million, and there are four subtypes. The case is presented of a 18-year-old woman from rural area of the north coast of Peru (Piura) with limited access to health services. She was diagnosed with phenotypic CGL at age 7 months. At age...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 2019
ISSN: 0022-3476
DOI: 10.1016/j.jpeds.2018.11.030