J Korean Orthop Assoc.  1974 Jun;9(2):235-238. 10.4055/jkoa.1974.9.2.235.

A Case of Hurler's Syndrome

• Roh YW
• Ok IY

• KMID: 2471508
• DOI: http://doi.org/10.4055/jkoa.1974.9.2.235

Abstract

A 14 months old boy with Hurler's syndrome, manifesting developmental retardation, grotesque facial appearance, dwarfism. kyphosis and hepatosplenomegaly are presented. Roentgenographic examination of the spine showed kyphosis at the upper lumbar region (L 2). and antero-Inferior beak-like projection of the Second lumbar Vertebra. The paper spot test for acid mucopolysaccharide excretion in the urine was positive. The familial background, clinical symptoms and treatment concerning for this condition were briefly discussed.

MeSH Terms

Dwarfism
Humans
Kyphosis
Lumbosacral Region
Male
Mucopolysaccharidosis I*
Spine

Reference

1. Berry H.K., Spinauger J.“A paper spot test useful in study of Hurler's syndrome.”. J. Lab & Clin. Med. 55:136. 1960.

2. Brante G.Gargoylism: “A mucopolysaccharidosis” Scand. Clin Lab Invest. 4:43. 1952.

3. Dorfman A., Lorincz A. E.“Occurance of urinary acid mucopolysaccharide in the Hurler's syndrome.” Proc. Nat. Act. 43:443. 1957.

4. Grumbach M.M., Meyer K.. “Urinary excretion and tissue storage of sulfated mucopolysaccharides in Hurler's syndrome.”. J.A.M.A. Dis. of child. 96:467. 1958.

5. Hunter C.A rare disease in 2 brothers. Proc. Roy. Soc. Med. 1917; 10(104):

6. Jervis G.A.“Gargoylism, A study of 10 cases, with emphasis on the formes frutes of the disease. Arch. Neurol. & Psychiat. 63:681. 1950.

7. Linker A., Terry K. D.“Urinary acid mucopolysaccharides in the normal man and in Hurler's syndrome.” Proc. Soc. Exp. Biol. Med. 113:743. 1963.

8. Meyer K., Grumbach M.M., Linker A., Hoffman P.“Excretion of sulfated mucopolysaccharide in gargoylism.“. Proc. Soc. Exp. Biol. Med. 97:275. 1958.

9. Uzman L.I.“Chemical nature of the storage substance in Gargoylism.” A.M.A. Arch. path. 60:309. 1955.

10. Wolfson S.L., Davidson E., Harris J.S., Kabana L. “Long term corticosteroid therapy in Hurler's syndrome.”. J. A. M. A. 106:3. 1963.