Computed tomography studies on patients with mucopolysaccharidoses

Watts, R. W. E.; Spellacy, Elizabeth; Kendall, B. E.; Boulay, George du; Gibbs, Dorothy A.

doi:10.1007/bf00518788

Cited by 47 publications

(10 citation statements)

References 28 publications

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“…Later, the term ~~3&dquo;Ier'S syndrome was used.7 y Computed tomographic studies of the brain in Hurler's disease (Table 1) have reported ventriculomegalyfl-3 expansion of the frontal subarachnoid spaces enlargement of the interhemispheric space and of cortical suici,l and lovv-attenuation areas in the peritrigonal white matter and in the centrum semiovale.' In our patients, iT scans confirmed the presence of iow-attenuation areas in the centrum semiovale and peritrigonai white matter described by Watts et al 1 Ventriculomegalv was not a prominent finding in our patieWs. it was seen in only one patient and was mii~.~.…”

Section: Discussionsupporting

confidence: 90%

Computed Tomography and Magnetic Resonance Imaging of the Brain in Hurler's Disease

et al. 1990

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Computed tomographic (CT) and magnetic resonance imaging (MRI) scans of the brain in five patients with Hurler's disease are described and compared to the few available reports in the literature. Computed tomographic scans revealed low attenuation areas in the centrum semiovale and peritrigonal white matter. Ventriculomegaly was not a prominent feature in our patients, compared to those previously reported. In two patients, CT were normal. The most prominent magnetic resonance imaging abnormalities were the presence of radially oriented cystic areas in the centrum semiovale, peritrigonal white matter, corpus callosum, and pericallosal region. Magnetic resonance imaging abnormalities were present in all patients, even when CT scans were normal. Abnormalities on CT and MRI scans tended to be more prevalent in the posterior regions. Magnetic resonance imaging proved to be a more reliable imaging method in Hurler's disease. T1-weighted images delineated the cystic areas more clearly, whereas T2-weighted images were more sensitive in detecting small white-matter abnormalities. Magnetic resonance imaging abnormalities correlated well with known neuropathologic alteration in this disease. It is suggested that the cystic areas seen on MRI correspond to perivascular lacunae seen in histopathologic material.

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Section: Discussionsupporting

confidence: 90%

Computed Tomography and Magnetic Resonance Imaging of the Brain in Hurler's Disease

et al. 1990

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“…The latter appearance generally indicates an increased water content but it is not specifically associated with hydrocephalus. It has also been seen in two patients with Hurler/Scheie disease neither of whom had hydrocephalus but one of whom had a mild degree of mental handicap (Watts et al, 1981). The areas of low attenuation correspond with the areas of pitting and cavitation around blood vessels visible on the cut surface of the white matter in Hurler disease (Crome and Stern, 1972).…”

Section: Discussionmentioning

confidence: 92%

“…This similarity between patients 1 and 2 included the computed tomography findings. Both had a similar degree of communicating hydrocephalus, and symmetrical low attenuation in the fronto-parietal white matter (Watts et al, 1981). The latter appearance generally indicates an increased water content but it is not specifically associated with hydrocephalus.…”

Section: Discussionmentioning

confidence: 97%

“…The patients were all diagnosed clinically as having Hurler disease and this was corroborated by (1) computed tomography (Watts et al, 1981), (2) the absence of ~-L-iduronidase activity from leukocytes and fibroblasts, (3) crosscorrection studies in which it was shown that the abnormal pattern of 3sSO4 uptake and release by fibroblasts could be corrected in vitro, and (4) demonstration of the characteristic abnormal excretion of dermatan and heparan sulphates . Brain tissue from patients 1 and 2 had no detectable CX-L-iduronidase activity (Crow et al, 1983).…”

Section: Diagnosismentioning

confidence: 96%

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Neuropathological and clinical correlations in hurler disease

Watts

Spellacy

Adams

1985

J of Inher Metab Disea

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We report studies on two patients (1 and 2) with Hurler disease. They both had all of the non-neurological features of Hurler disease to a similar and extreme degree and similar signs of brain damage on computed tomography. However, intellectual function was unusually well-preserved in patient 1, but seriously and typically impaired in patient 2. The reason for this discrepancy has been investigated by reference to the neuropathological findings, the results of alpha-L-iduronidase assays using different substrates and comparisons to other cases (patients 3 and 4). We suggest that patient 1 is an unusual variant of the disease who may have had a very low residual alpha-L-iduronidase activity in neuronal cells only, and that this could not be demonstrated by either enzyme assays on whole brain using the 4-methylumbelliferyliduronide substrate (Crow et al., 1983) or in studies on fibroblast lysates using a radioactive disaccharide substrate.

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“…The severity of neither of these correlates with the degree of psychomotor and psycholinguistic delay and we have observed well marked communicating hydrocephalus with relatively good retention of these functions and the reverse; also, a functioning ventriculo-atrial shunt in a Hurler disease patient with a communicating hydrocephalus (Patient 4) did not prevent the progression of psychomotor retardation. We have previously referred to a patient [Patient 9 of Watts et al (1981)1 classified as having Hurler/Scheie disease who has more marked white matter changes than some more severely retarded Hunter disease patients. Clearly, these changes give little guidance as to the functional capacity of the patients' neurons.…”

Section: Clinicalmentioning

confidence: 98%

A clinical trial of fibroblast transplantation for the treatment of mucopolysaccharidoses

Gibbs

Spellacy

Tompkins

et al. 1982

J of Inher Metab Disea

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This paper reports the clinical and biochemical results in six patients with Hurler disease (Mucopolysaccharidosis IH; McKusick 25280), two patients with Hunter disease (Mucopolysaccharidosis II; McKusick 25285) and one patient with Sanfilippo B disease (Mucopolysaccharidosis IIIB; McKusick 25292) who were treated by fibroblast transplantation. Except for one patient who died for a coincidental reason, the patients have been studied for between 2.5 and 4.5 years. The clinical course of the disease was not materially altered. There was no evidence that the patients had developed immune responses against the transplanted fibroblasts. Transplantation did not produce measurable levels of either alpha-L-iduronidase (EC 3.2.1.76) in the leukocytes from patients with Hurler disease or of N-acetyl-alpha-D-glucosaminidase (EC 3.2.1.50) in the plasma of the patients with Sanfilippo B disease. Under the conditions used for the assay, leukocytes from the patients with Hunter disease had detectable levels of residual alpha-L-idurono-2-sulphate sulphatase activity which were increased after the transplants, although these changes were of inconstant size and their time course was not consistently related to the transplantations. Cytogenetic studies in cases where the donor was of the opposite sex detected only cells of the recipient's sex among the fibroblasts grown from biopsies of the transplantation sites. The technique used would have detected a donor to recipient cell ratio of 1:100. We found no consistent long-term trends in the excretion patterns of glycosaminoglycans and oligosaccharides from either a quantitative or qualitative point of view which could be specifically related to the transplantation. The combined administration of immunosuppressive doses of prednisolone and azathioprine was associated with an increased excretion of the lower molecular weight glycosaminoglycans. We conclude that fibroblast transplantation is not therapeutically useful in the diseases studied.

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Computed tomography studies on patients with mucopolysaccharidoses

Cited by 47 publications

References 28 publications

Computed Tomography and Magnetic Resonance Imaging of the Brain in Hurler's Disease

Computed Tomography and Magnetic Resonance Imaging of the Brain in Hurler's Disease

Neuropathological and clinical correlations in hurler disease

A clinical trial of fibroblast transplantation for the treatment of mucopolysaccharidoses

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