Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine

British Journal of Radiology

Volumn 84, Issue 1001, 2011, Pages 469-477

  Rasalkar, D D ^a   Chu, Winnie Chui Wing ^a   Hui, J ^a   Chu, C M ^a   Paunipagar, B K ^a   Li, C K ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

LEVO IDURONIDASE;

BONE MARROW TRANSPLANTATION; CORD BLOOD STEM CELL TRANSPLANTATION; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; LIFE EXPECTANCY; MUCOPOLYSACCHARIDOSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; RADIOLOGIST; REVIEW;

BONE DISEASES, DEVELOPMENTAL; CHILD; CHILD, PRESCHOOL; ENZYME THERAPY; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUCOPOLYSACCHARIDOSES;

EID: 79955108535     PISSN: 00071285     EISSN: None     Source Type: Journal    
DOI: 10.1259/bjr/59197814     Document Type: Review

References (26)

1. Morquio L. Sur une forme de dystrophie osseuse familiale. Archives de médicine des infants 1929;32:129-35.
2. Goidanich IF, Lenzi L. Morquio- Ullrich Disease. A new mucopolysaccharidosis. J Bone Joint Surg Am 1964;46:734-46.
3. Langer LO, Jr. Spondyloepiphysial dysplasia tarda. Hereditary chondrodysplasia with characteristic vertebral configuration in the adult. Radiology 1964;82:833-9.
4. Langer LO, Jr, Carey LS. The roentgenographic features of the KS mucopolysaccharidosis of Morquio (Morquio-Brailsford's disease). Am J Roentgenol Radium Ther Nucl Med 1966;97:1-20.
5. Kaendler S, Bockenheimer S, Grafin Vitzthum H, Galow W. Cervical myelopathy in mucopolysaccharidosis type II (Hunter's syndrome). Neuroradiologic, clinical and histopathologic findings. Dtsch Med Wochenschr 1990;115: 1348-52.
6. Murata R, Nakajima S, Tanaka A, Miyagi N, Matsuoka O, Kogame S, et al. MR imaging of the brain in patients with mucopolysaccharidosis. AJNR Am J Neuroradiol 1989;10:1165-70. (Pubitemid 20029500)
7. Lee C, Dineen TE, Brack M, Kirsch JE, Runge VM. The mucopolysaccharidoses: characterization by cranial MR imaging. AJNR Am J Neuroradiol 1993;14:1285-92. (Pubitemid 23334619)
8. Shimoda-Matsubayashi S, Kuru Y, Sumie H, Ito T, Hattori N, Okuma Y, et al. MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome). Neuroradiology 1990;32:328-30. (Pubitemid 20264500)
9. Parsons VJ, Hughes DG, Wraith JE. Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II). Clin Radiol 1996;51:719-23.
10. Seto T, Kono K, Morimoto K, Inoue Y, Shintaku H, Hattori H, et al. Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation. Ann Neurol 2001;50:79-92.
11. Takahashi Y, Sukegawa K, Aoki M, Ito A, Suzuki K, Sakaguchi H, et al. Evaluation of accumulated mucopolysaccharides in the brain of patients with mucopolysaccharidoses by (1)H-magnetic resonance spectroscopy before and after bone marrow transplantation. Pediatr Res 2001;49:349-55.
12. Gabrielli O, Polonara G, Regnicolo L, Petroni V, Scarabino T, Coppa GV, et al. Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses. Am J Med Genet A 2004;125A:224-31. (Pubitemid 38294839)
13. Matheus MG, Castillo M, Smith JK, Armao D, Towle D, Muenzer J. Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 2004;46:666-72. (Pubitemid 39199525)
14. Kopits SE. Orthopedic complications of dwarfism. Clin Orthop Relat Res 1976;153-79.
15. Kelly TE. The mucopolysaccharidoses and mucolipidoses. Clin Orthop Relat Res 1976;116-33.
16. Hughes DG, Chadderton RD, Cowie RA, Wraith JE, Jenkins JP. MRI of the brain and craniocervical junction in Morquio's disease. Neuroradiology 1997;39:381-5. (Pubitemid 27216176)
17. Hobbs JR, Hugh-Jones K, Barrett AJ, Byrom N, Chambers D, Henry K, et al. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 1981;2:709-12.
18. Peters C, Balthazor M, Shapiro EG, King RJ, Kollman C, Hegland JD, et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 1996;87:4894-902. (Pubitemid 26162394)
19. Peters C, Shapiro EG, Anderson J, Henslee-Downey PJ, Klemperer MR, Cowan MJ, et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood 1998;91:2601-8.
20. Krivit W, Pierpont ME, Ayaz K, Tsai M, Ramsay NK, Kersey JH, et al. Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation. N Engl J Med 1984;311:1606-11. (Pubitemid 15175201)
21. Broxmeyer HE, Douglas GW, Hangoc G, Cooper S, Bard J, English D, et al. Human umbilical cord blood as a potential source of transplantable hematopoietic stem/progenitor cells. Proc Natl Acad Sci U S A 1989;86:3828-32. (Pubitemid 19141838)
22. Madrigal JA, Cohen SB, Gluckman E, Charron DJ. Does cord blood transplantation result in lower graft-vs-host disease? It takes more than two to tango. Hum Immunol 1997;56:1-5. (Pubitemid 28018594)
23. Harris DT, Schumacher MJ, Locascio J, Besencon FJ, Olson GB, DeLuca D, et al. Phenotypic and functional immaturity of human umbilical cord blood T lymphocytes. Proc Natl Acad Sci U S A 1992;89:10006-10.
24. Garban F, Ericson M, Roucard C, Rabian-Herzog C, Teisserenc H, Sauvanet E, et al. Detection of empty HLA class II molecules on cord blood B cells. Blood 1996;87:3970-6. (Pubitemid 26129630)
25. Crawley AC, Brooks DA, Muller VJ, Petersen BA, Isaac EL, Bielicki J, et al. Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J Clin Invest 1996;97:1864-73. (Pubitemid 26129873)
26. Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001;344:182-8. (Pubitemid 32064139)