Metabolic defect: glucocerebrosidase deficiency Other sphingolipid degradation diseases: acid sphingomyelinase deficiency | Fabry | Farber | Gaucher: type I, type II | GM1 gangliosidosis: type I, type II, type III | Tay-Sachs: type I, type II, type III | Sandhoff: type I | Krabbé | metachromatic leukodystrophy: type I, type II, type III

Current page: Gaucher - type III Select Another Disease Select disease Acid sphingomyel. def. Aspartylglycosaminuria Cystinosis Fabry disease Farber disease Fucosidosis type I Fucosidosis type II Galactosialidosis Gaucher type I Gaucher type II Gaucher type III GM1 gangliosidosis I GM1 gangliosidosis II GM1 gangliosidosis III Infantile sialic acid Krabbé disease Mannosidosis Metachr. leukodys. I Metachr. leukodys. II Metachr. leukodys. III MPS I MPS II Hunter MPS III Sanfilippo MPS IV Morquio MPS VI Maroteaux-Lamy MPS VII Sly Mucolipidosis II Mucolipidosis III Mucolipidosis IV Neuro ceroid lipof I Neuro ceroid lipof II Neuro ceroid lipof III Neuro ceroid lipof IV Pompe disease Pycnodysostosis Salla disease Sandhoff type I Sialidosis type I Sialidosis type II Tay-Sachs type I Tay-Sachs type II Tay-Sachs type III

Enzyme deficiency results in accumulation of un-degraded glycolipid substrates, particularly glucocerebroside, within the lysosomes of macrophages. Accumulation of Gaucher cells (enlarged cells containing excess glucocerebroside) in organs and tissues results in multi-systemic manifestations.

Hepatosplenomegaly		Strabismus

Accumulation of glucocerebroside in organs and tissues results in multi-systemic manifestations, including visceral and skeletal involvement, hematologic abnormalities, and metabolic disturbances.

Age of presentation: late childhood/early adolescence

Clinical features of type I, plus some of the neurologic complications of type II, although at an older age of onset and slower rate of progression

More heterogeneous in presentation than type II

Vicseral disease like that of type I, but can be more severe and more rapidly progressive

Similar to type I, with some of the neurologic manifestations of type II.

Note: Nervous system involvement must be clearly established before a diagnosis of type III is made.

Cranial nerve palsies

Ataxia

Dementia

Supranuclear ophthalmoplegia (horizontal supranuclear gaze palsy)

Seizures (progressive myoclonic)

Progressive spasticity

Abnormal brainstem auditory evoked potentials

EEG abnormalities

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Splenomegaly (most common symptom in all three types of gaucher)

Hypersplenism contributing to pancytopenia

Mechanical interference with bowel, kidney, diaphragm or circulation

Hepatomegaly (usually asymptomatic but may be complicated by liver failure with cirrhosis, esophageal varices; bleeding occurs infrequently)

Portal hypertension

Replacement of bone marrow with Gaucher cells (contributing to anemia, leukopenia, thrombocytopenia)

Bone pain

Femoral head necrosis

Pathologic fractures - femoral neck, long bones

Collapse of vertebral bodies with spinal cord compression

Kyphosis/scoliosis

"Bone crisis" (bone infarction)

Hypoxia (due to liver disease and pulmonary infiltration)

Restrictive lung disease (due to hepatosplenomegaly and kyphoscoiolosis)

Pulmonary hypertension

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Interstitial myocardial infiltration

Calcification of valves

Horizontal saccadic abnormalities

Convergent squint

Retinal infiltrates

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1. Hauser SL, Longo DL, eds. Harrison’s Principles of Internal Medicine. 14th ed. New York: McGraw-Hill; 1998; p. 2174-5.

2. Erikson A, Bembi B, Schiffmann R. Neuronopathic forms of Gaucher's disease. Baillieres Clin Haematol 1997;10(4):711-23.