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Computed tomography studies on patients with mucopolysaccharidoses

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Summary

The appearances on computed tomography (CT) in eight patients with mucopolysaccharidosis Type I [five with classical Type IH (Hurler disease)], two with mucopolysaccharidosis Type II (Hunter disease) and two with mucopolysaccharidosis Type IIIB (Sanfilippo B disease) are presented. Reference is also made to two further cases [mucopolysaccharidosis VI and mucopolysacharidosis IIIB] in which the CT showed special features. Follow-up scans were obtained to assess the evolution of the changes. The interplay of neuronal damage, cerebral atrophy and obstruction to the cerebrospinal fluid (CSF) circulation in the production of the cerebral manifestations, and the extent to which non-genetic factors influence the expression of the underlying biochemical lesion, are discussed. This series of patients illustrates the problem of classifying those with α-iduronidase deficiency, who do not have the classical Hurler disease phenotype (mucopolysaccharidosis IS and IH/S; Scheie disease and Hurler/Scheie disease), on the basis of currently available criteria. The place of CT in the diagnosis of complications due to thecal involvement is examined. The density of grey matter on the CT scans was similar to that of normal brain. Inhaled xenon did not produce any special enhancement which could be helpful in assessing the degree of the mucopolysaccharide deposition within cerebral cells. Symmetrical low attenuation in the white matter was a very common finding. It was not specifically associated with hydrocephalus and its relationship to some of the known neuropathological aspects of mucopolysaccharidoses is discussed. This work has shown that the stage in the evolution of the mucopolysaccharidoses at which hydrocephalus develops as a complication is highly variable and CSF diversion procedures are sometimes indicated to improve the quality of the patients' lives. These indications are briefly discussed. We consider that CT is essential for the adequate appraisal of these patients and to identify some treatable complications.

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Authors and Affiliations

  1. Division of Inherited Metabolic Diseases, Medical Research Council, Clinical Research Centre, Harrow, Middlesex, England

    R. W. E. Watts, Elizabeth Spellacy & Dorothy A. Gibbs

  2. Lysholm Radiological Department, The National Hospital for Nervous Diseases, Queen Square, London, England

    B. E. Kendall & G. du Boulay

Authors
  1. R. W. E. Watts
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  2. Elizabeth Spellacy
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  3. B. E. Kendall
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  4. G. du Boulay
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  5. Dorothy A. Gibbs
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Watts, R.W.E., Spellacy, E., Kendall, B.E. et al. Computed tomography studies on patients with mucopolysaccharidoses. Neuroradiology 21, 9–23 (1981). https://doi.org/10.1007/BF00518788

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