MULVIHILL-SMITH PROGERIA-LIKE SYNDROME - A FURTHER REPORT WITH DELINEATION OF PHENOTYPE, IMMUNOLOGICAL DEFICITS, AND NOVEL OBSERVATION OF FIBROBLAST ABNORMALITIES

We report the seventh case of Mulvihill-Smith progeria-like syndrome i n a 5-year-old boy with a thin, pinched face, failure to thrive, and c utaneous pigmented nevi, The patient's motor and intellectual developm ent were normal, His immune function tests demonstrate evidence of lym phopenia with no selective loss of a major subpopulation, low immunogl obulin (Ig)G2 and IgG4 subclasses, and an absent in vitro proliferativ e response to pokeweed mitogen. Chromosomal mitomycin and radiation se nsitivity were normal, The skin fibroblast growth in culture was slow, and the fibroblasts appeared morphologically different from normal co ntrols in their size and large number of inclusions. In addition, prim ary cilia, which normally issue from the centrosome, were absent-a new finding in fibroblasts in this disorder, It remains to be seen if the relative absence of centrosomal cilia in cultured fibroblasts in earl y passages is a consistent finding in this progeria syndrome. (C) 1997 Wiley-Liss, Inc.