Ceroid storage disease: Difference between revisions
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{{CMG}} ; {{AE}} {{ADI}} | {{CMG}} ; {{AE}} {{ADI}} | ||
==Overview== | ==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.<ref>http://www.checkorphan.org/disease/ceroid-storage-disease</ref> | |||
==Natural History, Complications and Prognosis== | ==Natural History, Complications and Prognosis== | ||
* Liver [[cirrhosis]] | |||
* Childhood death | |||
==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | ===Symptoms=== | ||
* [[Liver failure]] | |||
==Laboratory Findings== | |||
===Biopsy Findings=== | |||
* Ceroid deposits in the [[liver]] | |||
* Ceroid deposits in the [[spleen]] | |||
* Ceroid deposits in the [[intestinal]] lining | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category:Disease]] | [[Category:Disease]] | ||
Latest revision as of 16:20, 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
- Liver cirrhosis
- Childhood death
Diagnosis
Symptoms
Laboratory Findings
Biopsy Findings
- Ceroid deposits in the liver
- Ceroid deposits in the spleen
- Ceroid deposits in the intestinal lining