Case Presentation
Permanent URI for this collectionhttps://hdl.handle.net/20.500.12503/21706
Browse
Browsing Case Presentation by Author "Brautbar, Ariel"
Now showing 1 - 2 of 2
- Results Per Page
- Sort Options
Item Atherogenic Cholesterol in 2 Siblings with Congenital Generalized Lipodystrophy(2016-03-23) Wilson, Don; Torre, Alejandro; Brautbar, Ariel; Hamilton, Luke; Ali, MirCongenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near total absence of body fat from birth, with predisposition to insulin resistance, diabetes, hypertriglyceridemia and hepatic steatosis.1 This clustering of risk factors is often associated with increased atherogenic cholesterol, increasing risk of premature atherosclerotic cardiovascular disease (ASCVD)-related events. We describe two Mexican-American siblings, a 17 yr old male and a 6 yr old female, with congenital generalized lipodystrophy type 4, a variant of CGL, due to null mutations in polymerase I and transcript release factor (PTRF).1 Both siblings had characteristic findings of near lack of total body fat with very low levels of serum leptin, insulin resistance, hepatic steatosis, dyslipidemia and myopathy with elevated CPK. Leptin (ref range 1.4-16.5): 0.8 ng/mL. Measurement of fasting lipid and lipoproteins revealed severe hypertriglyceridemia and low HDL-C. Elevated levels of atherogenic cholesterol (non-HDL-C and LDL-C) are causally related to the development of atherosclerosis, the key underlying process contributing to most clinical ASCVD events. Measurements of atherogenic cholesterol in our two siblings with CGL-4, appeared to increase with age. Lipid profiles in children with CGL-4 are similar to those described in metabolic syndrome, i.e. moderate to severe hypertriglyceridemia with low HDL-C and increased small dense LDL-C. Although CVD risk is increased, children with CGL-4 are prone to sudden cardiac death, the latter most likely a result of the cardiomyocyte dysfunction.Item Mucolipidosis Type II (I-Cell Disease)(2016-03-23) Brautbar, Ariel; Hamilton, Luke; Wilson, Don; Dehbozorgi, Hangameh1. Our case is unusual because ML II does not generally present with fractures. This case demonstrates the importance of considering ML II in infants presenting with in-utero fractures. 2. Athena was used to access the patient's medical chart to collect information on this case presentation. 3. We describe a 10-month-old, Hispanic male of non-consanguineous parents with a history of in- utero fractures. In addition to multiple fractures, osteopenia, congenital heart defect, and jaundice were also present. The infant’s clinical presentation initially suggested osteogenesis imperfecta (OI), however genetic testing found no evidence of known mutations of OI. A careful review of the skeletal survey was suspicious for ML II, and further genetic sequencing at approximately 5 months of age confirmed the diagnosis. 4. Currently, there is no cure for ML II. Treatment focuses on palliative care including physical therapy to alleviate joint stiffness, speech therapy to assist in language acquisition, and surgery to correct conductive deafness. Continued research is needed to reduce morbidity and improve mortality.