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Type 2 Gaucher's disease

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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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