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,¹and a similar patient was described by Norman et al²as having "Tay-Sachs disease 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 al³as having "an unusual storage disease 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 disease from which they suffer was called "pseudo-Hurler disease" by Landing and Rubinstein.⁴ The purpose of this paper is