Table 1.

Gaucher Disease: Clinical Phenotypes

Age of OnsetPhenotypePrimary CNS InvolvementBone Disease 1Other
AdultType 1NoYes
  • Splenomegaly
  • Hepatomegaly
  • Cytopenia 2
  • Pulmonary disease
Infancy to early childhoodType 2 (acute; infantile)
  • Bulbar signs
  • Pyramidal signs
  • Cognitive impairment
No
  • Hepatomegaly
  • Splenomegaly
  • Cytopenia 2
  • Pulmonary disease
  • Dermatologic changes
ChildhoodType 3 (subacute; juvenile)
  • Oculomotor apraxia
  • Seizures
  • Progressive myoclonic epilepsy
Yes
  • Hepatomegaly
  • Splenomegaly
  • Cytopenia 2
  • Pulmonary disease
PerinatalPerinatal-lethal formPyramidal signsNo
  • Ichthyosiform or collodion skin changes
  • Nonimmune hydrops fetalis
Childhood to early adolescenceCardiovascular formOculomotor apraxiaYes
  • Calcification of mitral & aortic valves
  • Corneal opacity
  • Mild splenomegaly

CNS = central nervous system

1.

Osteopenia, focal lytic or sclerotic lesions, and/or osteonecrosis

2.

Anemia, leukopenia, and/or thrombocytopenia

From: Gaucher Disease

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