Familial Neurovisceral Lipidosis

Abstract

Introduction An infant with clinical and radiologic features of Hurler's disease, but with foam-cell histiocytosis of the viscera, has been briefly reported by Craig et al, 1 and a similar patient was described by Norman et al 2 as having with visceral involvement. Both these patients showed, in addition to visceral histiocytosis and involvement of neurons by a ballooning process resembling that seen in Tay-Sachs disease, a distinctive cytoplasmic swelling of glomerular epithelium. A suggestively similar patient has been described by San Filippo et al 3 as having an unusual storage resembling the Hunter-Hurler Syndrome; only biopsies of bone marrow, lymph nodes and liver were studied pathologically in this patient. On the basis of preliminary study of four of the patients reported in this paper, the from which they suffer was called pseudo-Hurler disease by Landing and Rubinstein. 4 The purpose of this paper is