The involvement of all five offspring of consanguinous and hypertriglyceridemic parents (first cousins) is reported. Three sons and two daughters of this family have increased triglycerides, normal cholesterol, and normal or slightly increased phospholipids. Mother and elder daughter have abnormal glucose tolerance. Father and mother are hypertensive; father had recent development of myocardial...

purpose: to report a relatively rare case of familial exudative vitreoretinopathy (fevr). patient and findings: a 13-year-old boy referred with decreased visual acuity of both eyes, specially right eye from 6 years ago. he had several ophthalmologist and optometrist visits and spectacle prescription without any improvement of vision. best corrected visual acuity (bcva) was 25 cm of count finger...

background: premature ovarian failure (pof) is a disorder of multi causal etiology. autoimmunity has been proposed as a mechanism for some cases of ovarian follicle dysfunction which is evident in pof. the aim of this study was to identify the level of auto-antibodies in pof and familial pof patients. materials and methods: in this study, auto-antibodies including anti-ovarian antibody (aoa), a...

Familial Mediterranean fever, an autosomal recessive disorder, is a member of the periodic fever syndromes, and considered to be the most common cause of recurrent febrile episodes in children. It is important to understand the disorder as familial Mediterranean fever falls on a spectrum of various presentations; the recurrent episodes of familial Mediterranean fever may be so severe that the q...

Hypertriglyceridemia is a rare cause of pancreatitis. In treatment pancreatic rest, lifestyle changes, medications (fibrates, n-3 polyunsaturated fatty acids, and nicotinic acid) are essential. Many experimental treatment modalities have been reported as insulin and heparin infusion and plasmapheresis. In this study we present the hypertriglyceridemia-induced pancreatitis treated with supportiv...

Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineou...