Gaucher disease, a lysosomal storage disorder, can present with a wide spectrum of severity ranging from a perinatal lethal phenotype to asymptomatic. There are three primary types with two additional subtypes, all categorized by differences in the clinical presentation of the patient. Hepatosplenomegaly, pulmonary disease, and cytopenia are also common for most types of Gaucher disease.
Patients with Gaucher disease type 1 have varying degrees and types of bone disease as the primary feature, but do not have any central nervous system involvement. Gaucher disease types 2 and 3 present with primary neurologic disease. Type 2 and 3 are distinguished based on age of onset and disease progression. Patients with type 2 typically have an earlier onset before age 2, rapid disease progression, and early death. Type 3 is characterized by a slower disease course with patients living into adulthood. Neurologic findings for types 2 & 3 include bulbar signs, pyramidal signs, oculomotor apraxia, seizures, as well as dementia and ataxia in later disease stages. The perinatal lethal form may present as nonimmune hydrops fetalis or with pyramidal neurologic signs and ichthyosiform skin changes. The cardiovascular form is characterized by primarily by calcification of mitral and aortic values with other minor findings.