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R. Norman, H. Urich, A. Tingey, R. Goodbody (1959)
Tay-Sachs' disease with visceral involvement and its relationship to Niemann-Pick's disease.The Journal of pathology and bacteriology, 78
M. Wolman, V. Sterk, S. Gatt, M. Frenkel (1961)
Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant.Pediatrics, 28
H. Berry, J. Spinanger (1960)
A paper spot test useful in study of Hurler's syndrome.The Journal of laboratory and clinical medicine, 55
M. D. Haust (1961)
Histochemical Studies in Hurler's Disease: New Method for Localization of Acid Mucopolysaccharide, and Analysis of Lead Acetate "Fixation,"J Histochem Cytochem, 9
W. Swoboda (1950)
Angul�re dorsolumbale Kyphose als unbekanntes skelettzeichen beim kongenitalen Myx�edemFortschr Röentgenstrahl, 73
W. Swoboda (1950)
Anguläre dorsolumbale Kyphose als unbekanntes Skelettzeichen beim kongenitalen MyxoedemFortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin, 73
J. M. Craig , J. T. Clarke, B. Q. and Banker (1959)
Metabolic Neurovisceral Disorder With Accumulation of Unidentified Substance: Variant of Hurler's Syndrome?AMA J Dis Child, 98
J. Caffey (1951)
Gargoylism: Prenatal and Early Postnatal Bone Lesions, and Their Early Postnatal EvolutionBull Hosp Joint Dis, 12
S. J. San Filippo , J. Yanis, H. C. and Worthen (1962)
Unusual Storage Disease Resembling Hunter-Hurler SyndromeAmer J Dis Child, 104
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 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 References 1. Craig, J. M.; Clarke, J. T.; and Banker, B. Q.: Metabolic Neurovisceral Disorder With Accumulation of Unidentified Substance: Variant of Hurler's Syndrome? AMA J Dis Child 98:577, 1959. 2. Norman, R. M., et al: Tay-Sachs' Disease With Visceral Involvement and Its Relationship to Neimann-Pick's Disease , J Path Bact 78:409-421, 1959.Crossref 3. San Filippo, S. J.; Yanis, J.; and Worthen, H. C.: Unusual Storage Disease Resembling Hunter-Hurler Syndrome , Amer J Dis Child 104: 553, 1962. 4. Landing, B. H., and Rubinstein, J. H.: Biopsy Diagnosis of Neurologic Diseases in Children, With Emphasis on Lipidoses in Cerebral Sphingolipidoses: Symposium on Tay-Sachs' Disease and Allied Disorders , S. M. Aronson and B. W. Volk, ed., New York: Academic Press, Inc., 1962, pp 1-13. 5. Haust, M. D., and Landing, B. H.: Histochemical Studies in Hurler's Disease: New Method for Localization of Acid Mucopolysaccharide, and Analysis of Lead Acetate "Fixation," J Histochem Cytochem 9:79-86, 1961.Crossref 6. Caffey, J.: Gargoylism: Prenatal and Early Postnatal Bone Lesions, and Their Early Postnatal Evolution , Bull Hosp Joint Dis 12:38, 1951. 7. Swoboda, W.: Anguläre dorsolumbale Kyphose als unbekanntes skelettzeichen beim kongenitalen Myxöedem , Fortschr Röentgenstrahl 73:740-749, 1950.Crossref 8. Wolman, M., et al: Primary Familial Xanthomatosis With Involvement and Calcification of Adrenals: Report of Two More Cases in Siblings of Previously Described Infant , Pediatrics 28:742-757, 1962. 9. Berry, H. K., and Spinanger, J.: Paper Spot Test Useful in Study of Hurler's Syndrome , J Lab Clin Med 55:136-138, 1960.
American Journal of Diseases of Children – American Medical Association
Published: Nov 1, 1964
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