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Gaucher disease - Symptom

Alternative Names

Glucocerebrosidase deficiency; Glucosylceramidase deficiency

Symptoms:

Symptoms vary depending on the type of disease, but may include:

Bone pain and fractures
Cognitive impairment
Easy bruising
Enlarged spleen (splenomegaly)
Enlarged liver (hepatomegaly)
Fatigue
Heart valve problems
Lung disease
Seizures
Severe swelling (edema) at birth
Skin changes

Signs and tests:

The doctor will perform a physical exam. The patient may have signs of liver and spleen swelling, bone changes, lung disease, eye movement problems, heart problems, or hearing loss.

The following tests may be performed:

Blood test to look for enzyme activity
Bone marrow aspiration
Biopsy of the spleen
MRI
CT
X-ray of the skeleton
Genetic testing

Bone marrow aspiration

Gaucher cell, photomicrograph

Gaucher cell, photomicrograph #2

Hepatosplenomegaly

Reviewed last on: 11/12/2010
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Stanley CA, Bennett MJ. Defects of metabolism in lipids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 86.

Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease. 7th ed. St. Louis, Mo: WB Saunders; 2005:163-165.

Sidransky E, Lamarca ME, Ginns EI. Therapy for Gaucher disease: Don't stop thinking about tomorrow. Mol Genet Metab. 2007 Feb;90(2):122-5. Epub 2006 Nov 3.

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