Abstract
We report imaging findings in a 3-year-old boy with the typical mild type of Hunter's disease. MRI revealed multifocal large cyst- or spindle-like areas of increased and decreased signal in the white matter, including the corpus callosum on T1- and T2-weighted images. The white matter showed high signal on T2-weighted images, isointense with cerebrospinal fluid on all other pulse sequences. To our knowledge, these appearances have not been reported in this disorder. Deposition of mucopolysaccharide and/or glycolipid and increase in fluid content seem to be responsible.
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References
Neufeld EF, Muenzer J (1989) The mucopolysaccharidoses. In: Scriver CR, Beaudet MC, Sly WS, Valle D (eds). Te metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1565–1587
Hopwood JJ, Morris CP (1990) The mucopolysaccharidoses: diagnosis molecular genetics and treatment. Mol Biol Med 7:381–404
Wilson PJ, Morris CP, Anson DS, Occhiodoro T, Bielicki J, Clements PR, Hopwood JJ (1990) Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci USA 87: 8531–8535
Wilson PJ, Suthers GK, Callen DF, Baker E, Nelson PV, Cooper A, Wraith JE, Sutherland GR, Morris CP, Hopwood JJ (1990) Frequent deletions at Xq28 indicate heterogenity in Hunter syndrome. Hum Genet 86:505–508
Ludwig B, Kishikawa T, Wende S, Rochel M, Gehler J (1987) Cranial computed tomography in disorders of complex carbohydrate metabolism and related storage diseases. AJNR 4:431–433
Kurkani MV, Williams JC, Yeakley JW, Andrew JL, McArdle CB, Narayama PA, Howell RR, Jones AJ (1987) Magnetic resonance imaging in the diagnosis of the cranial-cervical manifestations of the mucopolysaccharidosis. Magn Reson Imaging 5:317–323
Murata R, Nakajima S, Tanaka A, Miyagi N, Matsuoka O, Kogame S, Inoue Y (1989) MR imaging of the brain in patients with mucopolysaccharidosis. AJNR 10:1165–1170
Shimoda-Matsubayashi S, Kuru Y, Sumie H, Ita T, Hatori N, Okuma Y, Mizuno Y (1990) MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome). Neuroradiology 32:328–330
Gabrielli O, Salvolini U, Maricotti M, Mariani MG, Coppa GV, Giorgi PL (1992) Cerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotype. Neuroradiology 34:313–315
Dekabene AS, Constantopoulos G (1970) Mucopolysaccharidosis type I, II, IVA and V. Pathological and biochemical abnormalities in the neural and mesenchymal elements of the brain. Acta Neuropathol (Berl) 39:1–7
Heier LA, Bauer CJ, Schwartz L, Zimmerman RD, Morgello S, Deck MDF (1989) Large Virchow-Robin spaces: MR-clinical correlation. AJNR 10:929–936
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Shinomiya, N., Nagayama, T., Fujioka, Y. et al. MRI in the mild type of mucopolysaccharidosis II (Hunter's syndrome). Neuroradiology 38, 483–485 (1996). https://doi.org/10.1007/BF00607284
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DOI: https://doi.org/10.1007/BF00607284