GARGOYLISM (DYSOSTOSIS MULTIPLEX): TWO ADULT CASES WITH ONE AUTOPSY
Authors: E B SMITH, T C HEMPELMANN, S MOORE, D P BARR
Journal: Annals of Internal Medicine (1952)

Case Reports1 February 1952GARGOYLISM (DYSOSTOSIS MULTIPLEX): TWO ADULT CASES WITH ONE AUTOPSYEDWARD B. SMITH, M.D., THEODORE C. HEMPELMANN, M.D., SHERWOOD MOORE, M.D., DAVID P. BARR, M.D., F.A.C.P.EDWARD B. SMITH, M.D., THEODORE C. HEMPELMANN, M.D., SHERWOOD MOORE, M.D., DAVID P. BARR, M.D., F.A.C.P.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-36-2-652 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptGargoylism is a heritable and congenital condition, attributable at least in part to defects in cartilaginous development which lead to dwarfism and to numerous characteristic deformities of the skeleton. The osseous abnormalities were first described by Hunter1in 1917. Two years later Hurler2reported cases with similar deformities and with cloudiness of the corneae and mental deficiency. Husler,3who is responsible for the name "dysostosis multiplex," included the condition described by Hurler in his group of degenerative dysostoses. English writers coined the term "gargoylism."4, 5, 6, 7, 8There is some confusion in the literature in both designation and description:...Bibliography1. Hunter C: Rare disease in two brothers, Proc. Roy. Soc. Med. 10: 1, 104, 1917. Google Scholar2. Hurler G: Über einen Typ multipler Abartungen, vorwiegend am Skelettssystem, Ztschr. f. Kinderh. 24: 220, 1919. CrossrefGoogle Scholar3. Husler J: Handbuch der Kinderheil., 4th Ed., Vol. 1, p. 651. Google Scholar4. Cockayne EA: Gargoylism (chondro-osteodystrophy, hepatosplenomegaly, deafness in two brothers), Proc. Roy. Soc. Med. 30: 10, 107, 1936. Google Scholar5. Ellis RW: Gargoylism (chondro-osteodystrophy, corneal opacities, hepatosplenomegaly, and mental deficiency), Proc. Roy. Soc. Med. 30: 158, 1936. CrossrefMedlineGoogle Scholar6. Tombleson JB: Gargoylism (chondro-osteodystrophy), Proc. Roy. Soc. Med. 30: 1070, 1936. CrossrefGoogle Scholar7. Ellis RW: Gargoylism, Proc. Roy. Soc. Med. 31: 1113, 1937. Google Scholar8. SlotBurgess GG: Gargoylism, Proc. Roy. Soc. Med. 31: 1113, 1937. CrossrefGoogle Scholar9. PutmanPelkan MKF: A case of scaphocephaly with malformations of the skeleton and other tissues, Am. J. Dis. Child. 29: 51, 1925. Google Scholar10. ParkPowers EAGF: Acrocephaly and scaphocephaly with symmetrically distributed malformations of the extremities, Am. J. Dis. Child. 20: 235, 1920. CrossrefGoogle Scholar11. JewesburySpence RJ: Oxycephaly and acrocephaly with other congenital deformities, Proc. Roy. Soc. Med. 14: 27, 1920. CrossrefGoogle Scholar12. Nonne M: Familiäres Vorkommen (3 Geschwister) einer Kombination von imperfekter Chondro-dystrophie mit imperfektem Myxoedema infantile, Deutsch. Ztschr. f. Nervenh. 83: 263, 1925. CrossrefGoogle Scholar13. Evans P: Cretinism: with upper lumbar kyphosis resembling that in Morquio's disease, Proc. Roy. Soc. Med. 29: 500, 1935. CrossrefGoogle Scholar14. Washington JA: Lipochondrodystrophy. Brennemann's practice of pediatrics, Vol. IV, Chap. 30, 1948, W. Pryor Co., Hagerstown. Google Scholar15. Tuthill CR: Juvenile amaurotic idiocy, Arch. Neurol. and Psychiat. 32: 198, 1934. CrossrefGoogle Scholar16. Reilly WA: An atypical familial endocrinopathy in males with a syndrome of other defects, Endocrinology 19: 639, 1935. CrossrefGoogle Scholar17. AshbyStewartWatkin WNRMJH: Chondro-osteodystrophy of the Hurler type (gargoylism). A pathological study, Brain 60: 149, 1937. CrossrefGoogle Scholar18. KresslerAegerter RJEE: Hurler's syndrome (gargoylism), J. Pediat. 12: 579, 1938. CrossrefGoogle Scholar19. de LangeGerlingsDe KleynLettinga CPGATW: Some remarks on gargoylism, Acta paediat. 31: 398, 1944. CrossrefGoogle Scholar20. Kny W: Zur Kenntnis der Dysostosis multiplex Typ Pfaundler-Hurler, Ztschr. f. Kinderh. 63: 366, 1942. CrossrefGoogle Scholar21. Schmidt MB: Die anatomischen Veränderungen des Skeletts bei der Hurlerschen Krankheit, Zentralbl. f. allg. Path. u. path. Anat. 79: 113, 1942. Google Scholar22. Strauss L: A case of gargoylism, New York State J. Med. 47: 157, 1947. Google Scholar23. LindsayReillyGothamSkahen SWATJR: Gargoylism. II. Study of pathologic lesions and clinical review of twelve cases, Am. J. Dis. Child. 76: 239, 1948. CrossrefMedlineGoogle Scholar24. Jervis GA: Gargoylism (lipochondro-dystrophy). A study of ten cases, with emphasis on the formes frustes of the disease, Arch. Neurol. and Psychiat. 63: 681, 1950. CrossrefMedlineGoogle Scholar25. GillespieSiegling JBJA: Dysostosis multiplex, J. Bone and Joint Surg. 22: 171, 1940. Google Scholar26. CordesHogan FCMJ: Dysostosis multiplex (Hurler's disease; lipochondrodysplasia; gargoylism): Report of ocular findings in five cases, with a review of the literature, Arch. Ophth. 27: 637, 1942. CrossrefGoogle Scholar27. Reilly WA: The granules in the leukocytes in gargoylism, Am. J. Dis. Child. 62: 489, 1941. Google Scholar28. HalperinCurtis SLGM: The genetics of gargoylism, Am. J. Ment. Deficiency 46: 298, 1942. Google Scholar29. Boyd E: The weight of the thymus gland in health and disease, Am. J. Dis. Child. 43: 1162, 1932. Google Scholar30. Wolff D: Microscopic study of temporal bones in dysostosis multiplex (gargoylism), Laryngoscope 52: 218, 1942. CrossrefGoogle Scholar31. Stockard CR: Internal constitution and genic factors in growth determination, Symposia on Quantitative Biology, Cold Springs Harbor, 2: 118, 1934. CrossrefGoogle Scholar32. ToddLyon TWDW: Cranial suture closure, Am. J. Phys. Anthropol. 8: 23, 1925. CrossrefGoogle Scholar33. ToddLyon TWDW: Endocranial suture closure, Am. J. Phys. Anthropol. 7: 325, 1924. CrossrefGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: *Received for publication January 22, 1951.From the Departments of Pathology, Pediatrics, Radiology, and Medicine of Washington University School of Medicine, St. Louis.†Department of Pathology, Indiana University Medical Center, Indianapolis, Indiana.‡Deceased.§Department of Medicine, Cornell University Medical School, New York, N. Y. 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