Author/Authors :
Shahramian Iraj نويسنده Pediatricians, Zahedan, Iran , Bazi Ali نويسنده Cancer Molecular Pathology Research Center, Faculty of Medicine, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, IR Iran , Sargazi Aliyeh نويسنده Medical Student, Zabol University of Medical Sciences, Zabol, Iran , Delaramnasab Mojtaba نويسنده Clinical Research Development Unit, Amir-Al-Momenin Hospital, Zabol University of Medical Sciences, Zabol, Iran , Azimi-khatibi Esmaeil نويسنده Department of Pathology, School of Medicine, Zabol University of Medical Sciences, Zabol, IR Iran , Mahjoob Fatemeh نويسنده Department of Pathology, Center of Excellence, Children’s Medical Center, Zabol University of Medical Sciences, Zabol, IR Iran
Abstract :
Cholesteryl ester storage disease (CESD) is a disorder in which cholesteryl esters (CE) and triglycerides (TG) are preserved particularly in hepatocytes. The exact clinical manifestation is not known due to a lack of sufficient data. The current study presents 3 new cases of CESD with 2 of them being siblings. All had perturbed serum low-density lipoprotein (LDL), lactate dehydrogenase (LDH), triglyceride, and cholesterol. Hepatosplenomegaly was seen in all the patients. Liver biopsy showed fat storage in hepatocytes. Adrenomegaly or adrenal calcification, portal hypertension, esophageal varices, and hepatic scarring were not observed in any of the patients. Histopathologic features of CESD, including fat storage in hepatocytes, could characterize these patients.
