Gaucher's disease type 2 is the infantile form of the disease, with no predilection for Jews. There is virtually no glucerebrosidase activity in the tissues.
In this disease there is central nervous system dysfunction, convulsions, and progressive mental deterioration dominate, although organs such as the liver, spleen, and the lymph nodes are also affected.
Type 2 | |
Phenotype | Accounts for 1% of GD cases. Typically neonatal-infantile onset with a rapidly progressive fatal course. The median age of death is 9 months |
Visceral symptoms | Hepatomegaly, splenomegaly, hydrops fetalis (neonatal presentation) and interstitial lung disease |
Hematopoietic symptoms | Anaemia and thrombocytopenia |
Orthopaedic symptoms | Arthrogryposis in severe cases, and generally death before bony abnormality |
Neurologic symptoms | Bulbar palsies, hypertonicity, abnormal ocular saccades and cognitive impairment |
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