Primary hypertriglyceridemias are very rare in pediatric age group. A case of 12 years old boy with hypertriglyceridemia is presented. He was being treated as a case of thalassemia major since 2 years of age and was picked up incidentally when his serum turned milky on standing. Since hypertriglyceridemia is a known risk factor for the acute pancreatitis so an early detection is helpful in adoption of a healthy life style.
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Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Vitamin D is commonly recommended for daily intake as dietary sources are often insufficient. However, prolonged high-dose use can lead to serious complications. We present a rare case of a 2-month-old infant who developed severe hypercalcemia and hypertriglyceridemia due to an accidental overdose of 25-OH vitamin D, leading to hypertriglyceridemia and pancreatitis.
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January 2025
Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education (MOE), West China Institute of Women and Children's Health, Key Laboratory of Development and Diseases of Women and Children of Sichuan Province, Department of Pediatrics, Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Background: Cardiovascular involvement is a rare but severe complication of Epstein-Barr virus (EBV) infections. Patients with chronic active EBV (CAEBV) are at increased risk of developing cardiovascular complications and have a poor prognosis. Here, we report the rare case of a pediatric patient with CAEBV and EBV- hemophagocytic lymphohistiocytosis (HLH) complicated with a giant coronary artery aneurysm (CAA) and thrombosis, a giant Valsalva sinus aneurysm, and ascending aorta dilation seven years after the disease onset.
View Article and Find Full Text PDFJ Clin Exp Hepatol
December 2024
Departments of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Introduction: Glycerol-3-phosphate dehydrogenase 1 (GPD1) deficiency is an autosomal recessive disorder causing hypertriglyceridemia, hepatomegaly, fatty liver, and hepatic fibrosis in infancy. It is an under-recognized cause of pediatric steatotic liver disease (SLD) with only 36 cases reported worldwide.
Method: We analyzed the clinical profile of our five cases diagnosed by exome sequencing (ES) and reviewed the published cases till December 2023 using PubMed search.
Biomedica
December 2024
Facultad de Ciencias de la Salud, Universidad ICESI, Cali, Colombia, Departamento de Pediatría, Alergología e Inmunología Pediátrica, Fundación Valle del Lili, Cali, Colombia.
Introduction. Hemophagocytic syndrome is an under-recognized condition with high mortality in the pediatric population. It is characterized by excessive activation of immune cells and cytokine release, leading to persistent inflammation.
View Article and Find Full Text PDFFront Neurol
December 2024
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Introduction: Neonatal seizures are the most common clinical manifestation of neurological dysfunction in newborns, with an incidence ranging from 1 to 5‰. However, the therapeutic efficacy of current pharmacological treatments remains suboptimal. This study aims to utilize genetically modified hamsters with hypertriglyceridaemia (HTG) to investigate the effects of elevated triglycerides on neuronal excitability and to elucidate the underlying mechanisms.
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