Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells

Clinical Features

Weisdorf and Krivit (1982) and McKinley et al. (1987) described a syndrome of massive splenomegaly with reduced circulating T helper cells and splenic germinal center hypoplasia. The first patient of McKinley et al. (1987) was a 33-year-old male in whom splenomegaly was detected at birth, after his older brother was noted to have an enlarged spleen during infancy. In general he had been quite well except for 1 episode of pneumonia requiring hospitalization. The spleen was massively enlarged 17 cm below the costal margin. Because he complained of left hypochondrial pain, splenectomy was performed for symptomatic relief. The spleen weighed 1750 g. The blood count returned to normal after the operation, suggesting that the preoperative pancytopenia was due to hypersplenism. The older brother had a spleen that measured 9 cm below the costal margin, and the father of the 2 boys had 8 cm splenomegaly. The spleen and lymph nodes in the proband were shown to have germinal center hypoplasia with T helper cells being present in normal numbers and distribution in these tissues; however, there was a reduction in circulating T helper cells, a reversed T4/T8 ratio and cutaneous anergy.