a. What is shown in this film?

b. What is the diagnosis?

c. How is this condition inherited?
 

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This is the bone marrow film of a young patient with bilateral pinguculae.

a. What is shown in this film?

Gaucher cell.
Gaucher cell is glucocerebroside-containing reticuloendothelial 
histiocytes and in the bone marrow it has the foam cell appearance. 

b. What is the diagnosis?

Gaucher's disease.
It is a rare, inherited and potentially fatal disorder. It is characterized by decreased levels of the enzyme glucocerebrosidase. Deficiency of glucocerebrosidase leads to the accumulation of the lipid
glucocerebrosidewithin the lysosomes of the monocyte macrophage system ie.Gaucher cells.These cells lead to the displacement of healthy, normal cells in bone marrow,hepatosplenomegaly, organ failure and skeletal deterioration.

c. How is this condition inherited?

Autosomal recessive inheritance.

Type 1 chronic non-neuropathic is the most common, afflicting both 
children and adults. This type is seen in all racial group, but more common in people of Eastern European ancestry. Pinguculae are commonly seen on the nasal conjunctiva in type 1 than other types.

Type 2 acute neuropathic is characterized by central nervous system involvement. Type 2 patients rarely survive to age 2.

Type 3 subacute neuropathic. Type 3 is characterized by a variable 
course and is marked by slowly progressive neurologic involvement. 

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