| Q 22 Discussion |
| This is a spot picture that you should know. The cells are Gaucher cells and they are said to have "wrinkled tissue paper cytoplasm" because of it's appearance. This appearance is typical of Gauchers cells. The nucleus is eccentric. What is the material that accumulates in these cells? |
| Gaucher's disease is due to a deficiency of glucocerebroside. This enzyme is needed to break down cerebrosides which are present in cell membranes. In it's absence they accumulate in the Lysosomes of macrophages at different sites in the body - especially spleen and liver but also bone marrow and lymph nodes and in the rarer types 2 and 3 in the brain. |
| Type 1. Ashkenazi jews, Commonest lysosomal storage disease Does not involve brain Life expectancy almost normal Have small amounts of the enzyme in their lysosomes. |
| Type 2 CNS involvement as well as other sites. Death in early childhood. No detectable enzyme present in lysosomes. |
| Type 3 Similar to type 2 Onset later in life - teens. Neurological deterioration occurs but less rapidly than in type 2 |
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