Ceroid storage disease: Difference between revisions
Jump to navigation
Jump to search
| Line 5: | Line 5: | ||
==Overview== | ==Overview== | ||
A rare [[metabolic]] storage disease characterized by abnormal deposits of a waxy substance called ceroid [[ | A rare [[metabolic]] storage disease characterized by abnormal deposits of a waxy substance called ceroid [[lipofuscin]] in various parts of the body such as the [[liver]], [[spleen]] and intestinal lining.<ref>http://www.checkorphan.org/disease/ceroid-storage-disease</ref> | ||
==Natural History, Complications and Prognosis== | ==Natural History, Complications and Prognosis== | ||
Revision as of 15:16, 30 July 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]
Overview
A rare metabolic storage disease characterized by abnormal deposits of a waxy substance called ceroid lipofuscin in various parts of the body such as the liver, spleen and intestinal lining.[1]
Natural History, Complications and Prognosis
- Childhood death
- Liver cirrhosis
Diagnosis
Symptoms
Laboratory Findings
- Ceroid deposits in the liver
- Ceroid deposits in the spleen
- Ceroid deposits in the intestinal lining