Atypical Infantile Familial Chylomicronemia Syndrome: A Milky Mess
نویسندگان
چکیده
منابع مشابه
Two Case Reports of Familial Chylomicronemia Syndrome
Familial chylomicronemia is a rare autosomal recessive disorder which is also called Hyperlipoproteinemia type I. Here we report two cases with this rare disorder that were admitted to our hospital in recent years.
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There are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in infants. The authors report a neonate affected by familial hyperchylomicronemia, While being investigated for sepsis the serum sample obtained for blood counts was discovered to be lipaemic and the case was subsequently investigated for dyslipidemia. Based on this very abnormal lipid profile...
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A family is described showing concordance for malignant melanoma and a cutaneous phenotype characterised by multiple large moles of variable size and colour (reddish-brown to bright red) with pigmentary leakage. Transmission of the cutaneous phenotype in the subject family, and in several others currently under investigation, shows an inheritance pattern consistent with a simple autosomal domin...
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Familial chylomicronemia syndrome is a very rare condition with an incidence of one in one million. We report such a condition detected incidentally in a cleft child.
متن کاملFamilial chylomicronemia in a nine months old infant.
Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. We report a rare case of familial chylomicronemia in a ...
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ژورنال
عنوان ژورنال: SAS Journal of Medicine
سال: 2020
ISSN: 2454-5112
DOI: 10.36347/sasjm.2020.v06i11.004