A CONTRIBUTION TO THE PATHOLOGY OF PRIMARY SPLENOMEGALY (GAUCHER TYPE), WITH THE REPORT OF AN AUTOPSY ON A MALE CHILD FOUR AND ONE HALF YEARS OF AGE.
As a result of this study it may be stated that primary splenomegaly of the Gaucher type is a distinct disease, related in all probability to the blood diseases. It begins usually at an early age, frequently affects several members of a family, and runs a chronic course. The clinical manifestations are: pronounced hypertrophy of the spleen, subsequent enlargement of the liver, absence of palpable lymph nodes, absence of jaundice and ascites, absence of characteristic blood changes, discoloration or pigmentation of the skin, and a tendency to epistaxis or other hemorrhages. The lesions are found in the spleen, lymph nodes, bone marrow, and liver. These organs show the presence of iron-containing pigment, and large multinuclear cells with a characteristic cytoplasm. In the early cases peculiar large phagocytic cells arising from atypical large lymphocytes are found in the follicles (keimcentra) of the hemapoietic system. After leaving the follicles these cells possess phagocytic qualities for a certain period. As a result of the phagocytosisthe cells enlarge, the nature of the cytoplasm changes, and the cells acquire a characteristic vacuolated and wrinkled appearance. The cells are carried from the spleen through the portal system to the liver, where they are destroyed. The irritation produced by this destructive process gives rise to an increase in the intralobular connective tissue. The disease is eminently a chronic one, without any of the manifestations of malignancy, and always terminating as the result of some intercurrent affection. The etiology is unknown, although a family predisposition to some toxic agent which causes an irritability of the follicles in the hemapoietic system probably exists. The possibility of some protozoan infection as an etiological factor must not be overlooked.
Pathological Laboratory of Mount Sinai Hospital, New York.
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Mandlebaum