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November 1964

Familial Neurovisceral Lipidosis: An Analysis of Eight Cases of a Syndrome Previously Reported as "Hurler-Variant," "Pseudo-Hurler Disease," and "Tay-Sachs Disease With Visceral Involvement"

Author Affiliations

Benjamin H. Landing, MD, Children's Hospital of Los Angeles, 4614 Sunset Blvd., Los Angeles, Calif 00027.; Departments of pathology and pediatrics (Dr. Landing), Department of Pediatrics (Dr. Chadwick) Children's Hospital of Los Angeles and University of Southern California School of Medicine; divisions of radiology and pediatrics, Cincinnati Children's Hospital and University of Cincinnati College of Medicine (Dr. Silverman); Department of Pathology, Boston Lying-In Hospital and Harvard Medical School (Dr. Craig); and Department of Pediatrics, University of Utah College of Medicine and Salt Lake County Hospital (Dr. Lahey).

Am J Dis Child. 1964;108(5):503-522. doi:10.1001/archpedi.1964.02090010505010

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 al2 as 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 al3 as 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.4The purpose of this paper is