Ceroid storage disease
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
=Biopsy Findings
- Ceroid deposits in the liver
- Ceroid deposits in the spleen
- Ceroid deposits in the intestinal lining