Metabolic defect: glucocerebrosidase deficiency Other sphingolipid degradation diseases: acid sphingomyelinase deficiency | Fabry | Farber | Gaucher: type I, type III | 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 II 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.

Strabismus

Accumulation of glucocerebroside in organs and tissues results in multi-systemic manifestations, including visceral and skeletal involvement, hematologic abnormalities, and central nervous system involvement. Resulting symptoms can appear in first months and are generally sever and rapidly progressive.

Average age of onset: 2-4 months

May present with painless hepatosplenomegaly rapidly followed by neurologic complications

Less heterogeneous than types I and III

Patients rarely survive to 2 years of age

Cranial nerve palsies

Ataxia

Cognitive impairment

Seizures (myoclonic and generalized tonic-clonic)

Classic triad: trismus, strabismus, retroflexion of head (opisthotonus)

Pyramidal tract involvement:

Progressive spasticity or spastic paraparesis

Hyperreflexia, positive babinski, pathologic reflexes

Bulbar dysfunction:

Dysphagia

Difficulty in handling secretions

Death usually due to aspiration pneumonia or apnea

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

Pancytopenia, bleeding diathesis

Hepatomegaly (may be complicated by liver failure with portal hypertension)

Dysphagra

Trismus

Laryngospasm

Apneic episodes

Skin changes; ichthyosiform or collodion skin

Strabismus

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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.