Neuroradiology

, Volume 34, Issue 4, pp 313–315 | Cite as

Cerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotypes

  • O. Gabrielli
  • U. Salvolini
  • M. Maricotti
  • M. G. Mariani
  • G. V. Coppa
  • P. L. Giorgi
Diagnostic Neuroradiology

Summary

We describe a cerebral MRI study of two brothers with mucopolysaccharidosis type I. They are of similar physical appearance, but the younger is severely mentally retarded while the elder is of normal intelligence. MRI shows characteristic abnormalities in the CNS, but it is not yet possible to establish a correlation between them and the mental retardation.

Key words

Cerebral magnetic resonance imaging Mental retardation Mucopolysaccharidoses Alpha-L-iduronidase deficiency 

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References

  1. 1.
    neufeld EF, Muenzer J (1989) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1565–1587Google Scholar
  2. 2.
    Schuchman EH, Astrin KH, Aula P, Desnick RJ (1984) Regional assignment of the structural gene for human α-L-iduronidase. Proc Natl Acad Sci USA 81: 1169–1175Google Scholar
  3. 3.
    McKusick VA, Howell RR, Hussels IE, Neufeld EF, Stevenson RE (1972) Allelism, non-allelism and genetic compound among the mucopolysaccharidoses. Lancet I: 993–994Google Scholar
  4. 4.
    Watts RWE, Spellacy E, Kendall BE, Du Boulay G, Gibbs DA (1981) Computed tomography studies on patients with mucopolysaccharidoses. Neuroradiology 21: 9–23Google Scholar
  5. 5.
    Purpura DP, Suzuki K (1976) Distorition of neuronal geometry and formation of aberrant synapses in neuronal storage disease. Brain Res 116: 1–21Google Scholar
  6. 6.
    Walkey SU, Haskins ME, Shull RM (1988) Alterations in neuron morphology in mucopolysaccharidosis type I. A Golgi study. Acta Neuropathol (Berl) 75: 611–620Google Scholar
  7. 7.
    Johnson MA, Desai S, Hugh-Jones K, Starer F (1984) Magnetic resonance imaging of the brain in Hurler syndrome. AJNR 5: 816–819Google Scholar
  8. 8.
    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: 1165–1170Google Scholar
  9. 9.
    Nelson J, Grebbell FS (1987) The value of computed tomography in patients with mucopolysaccharidosis. Neuroradiology 29: 544–549Google Scholar
  10. 10.
    Rauch RA, Friloux LA III, Lott IT (1989) MR imaging of cavitary lesions in the brain with Hurler/Scheie. AJNR 10: S1-S3Google Scholar
  11. 11.
    Swaiman KF (1989) Lysosomal diseases. In: Swaiman KF (ed) Pediatric neurology. Mosby, St Louis, pp 1043–1051Google Scholar
  12. 12.
    Crome L, Stern J (1972) Pathology of mental retardation, 4th edn. Churchill Livingstone, Edinburgh, pp 320–324Google Scholar
  13. 13.
    Dekaban AS, Costantopoulos G (1977) Mucopolysaccharidosis Types I, II, IIIA and V: pathological and biochemical abnormalities in the neural and mesenchymal elements of the brain. Acta Neuropathol (Berl) 39: 1–7Google Scholar
  14. 14.
    Wende S, Ludwig B, Kishikawa T, Rochel M, Gehler J (1984) The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood. J Neurol 231: 57–70Google Scholar
  15. 15.
    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: 431–433Google Scholar
  16. 16.
    Kurkani MV, Williams JC, Yeaklley JW, Andrews JL, McArdle CB, Narajama PA, Howell RR, Jones AJ (1987) Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidosis. Magn Reson Imaging 5: 317–323Google Scholar
  17. 17.
    Shimoda-Matsubayashi S, Kuru Y, Sumie H, Ita T, Hattori N, Okuma Y, Mizuno Y, (1990) MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome). Neuroradiology 32: 328–330Google Scholar

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • O. Gabrielli
    • 1
  • U. Salvolini
    • 2
  • M. Maricotti
    • 3
  • M. G. Mariani
    • 1
  • G. V. Coppa
    • 1
  • P. L. Giorgi
    • 1
  1. 1.Department of PaediatricsUniversity of AnconaAnconaItaly
  2. 2.Department of NeuroradiologyUniversity of AnconaAnconaItaly
  3. 3.Department of NeurologyUniversity of AnconaAnconaItaly

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