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 the abnormal deposits of a waxy substance called ceroid lipfuscin 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 Tests

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