Ceroid storage disease

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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.

Natural History, Complications and Prognosis

• Childhood death
• Liver cirrhosis

Diagnosis

Symptoms

• Liver failure

Laboratory Findings

• Ceroid deposits in the liver
• Ceroid deposits in the spleen
• Ceroid deposits in the intestinal lining