Gaucher, Philippe C. E.

Gaucher, Philippe C. E.

(go-sha')
Fr. physician, 1854–1918.

Gaucher cell

A large reticuloendothelial cell seen in Gaucher disease, which contains a small, eccentrically placed nucleus and kerasin.

Gaucher disease

Any of several autosomal recessive disorders of lipid metabolism caused by a deficiency of the enzyme beta-glucocerebrosidase, in which glycosphingolipids accumulate in the reticuloendothelial cells. The severe form is rare, but milder forms frequently occur, esp. in those of Jewish descent. Synonym: cerebroside lipoidosis

Three clinical subtypes of the disease exist. Type 1, comprising 99% of cases, is associated with an enlarged liver and spleen, increased skin pigmentation, and painful bone marrow lesions. Enzyme replacement therapy is effective in this type but may be prohibitively expensive. Type 2 is characterized by neurological symptoms including oculomotor apraxia, strabismus, and hypertonicity. These symptoms usually occur in the first year of life, with death following by age 18 months. Therapy is symptomatic. Type 3 is similar to type 2, but the onset of symptoms is much later and the course is longer. Therapy is symptomatic.