1/9. White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI.Mucopolysaccharidosis (MPS) type I (alpha-iduronidase deficiency) is characterized by storage and massive urinary excretion of dermatan sulfate and heparan sulfate; it may be distinguished into three different subtypes based on age at onset and severity of the clinical symptoms. We report on progressive white matter involvement documented by serial MR imaging in a patient with the MPS type I, severe skeletal involvement and preserved mental capabilities (intermediate phenotype or Hurler/Scheie syndrome).The natural history of white matter abnormalities in patients with MPS is still unclear; based on the present study, it appears that degenerative changes of the white matter mimicking a leukodystrophy may mark the course of MPS type I. We also suggest that the degree of MR changes in patients with MPS does not always reflect their neurological impairment.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
2/9. Hurler-Scheie phenotype: a report of two pairs of inbred sibs.Four cases from two families with dermatan sulfate mucopolysacchariduria who lack alpha-L-iduronidase in peripheral leukocytes are described. The clinical and roentgenographic features of these cases represent an intermediate phenotype between Hurler's syndrome and Scheie's syndrome, and both parents in each family are first cousins. In the presence of parental consanguinity, a phenotypic variation or a third mutant allele at the iduronidase locus seems to be a more reasonable explanation for these cases than a genetic compound.- - - - - - - - - - ranking = 20.150807504104keywords = leukocytes (Clic here for more details about this article) |
3/9. Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl.A female child of healthy, unrelated parents presented at 12 months of age with a history of moderately severe developmental delay, macrocephaly, dysmorphic facies, hypotonia, hepatosplenomegaly, mild generalized dysostosis multiplex, mucopolysacchariduria (dermatan and heparan sulfates), and Alder-Reilly bodies in peripheral blood leukocytes. iduronate sulfatase activity in plasma was markedly depressed: 0.11 units/ml/h (normal, 1.75 /- 0.56, N = 6). Analyses of arylsulfatases A, B, and C, heparan N-sulfatase, alpha-mannosidase, beta-mannosidase, beta-glucuronidase, beta-hexosaminidase, beta-galactosidase, and alpha-fucosidase activities in plasma, leukocytes, and/or cultured skin fibroblasts were all normal. Urinary sulfatide excretion was also within normal limits. Karyotypes of peripheral blood leukocytes and cultured skin fibroblasts were normal. serum iduronate sulfatase activities in the parents were in the normal range (father, 1.63 units/ml/h; mother, 1.25 units/ml/h). The results of analyses of restriction fragment length polymorphisms (RFLP) of dna from cultured skin fibroblasts with the use of probes for loci extending from Xpter to Xq28 showed x chromosome heterozygosity and confirmed the paternal origin of one of the X chromosomes. Studies on sulfur-35 uptake in mixed fibroblast cultures showed cross-correction of [35S]-glycosaminoglycan accumulation between cells from the patient and normal cells or cells from a patient with Hurler disease; however, there was no cross-correction between cells from the patient and those from boys affected with classical Hunter disease. This represents only the second confirmed case of Hunter disease reported in a karyotypically normal girl.- - - - - - - - - - ranking = 60.452422512311keywords = leukocytes (Clic here for more details about this article) |
4/9. Computed tomography and magnetic resonance imaging of the brain in Hurler's disease.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.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
5/9. A nonpathologic allele (IW) for low alpha-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome.We identified a phenotypically normal obligate heterozygote for Hurler syndrome with exceedingly low levels of alpha-L-iduronidase enzyme activity. Subsequent investigation determined that low alpha-L-iduronidase activity was systemic, also characteristic of the subject's leukocytes and cultured skin fibroblasts. Residual alpha-L-iduronidase activity of cultured fibroblasts was found to have reduced catalytic activity (Vmax) against the 4-methylumbelliferone substrate, but normal substrate affinity (KM). Additional studies further characterized the residual enzyme activity in this woman who is an apparent compound heterozygote for Hurler syndrome, and for an allele with low alpha-L-iduronidase activity lacking pathologic manifestation. Such low activity "pseudodeficiency" alleles will complicate attempts at prenatal diagnosis of Hurler syndrome and related disorders in rare families.- - - - - - - - - - ranking = 20.150807504104keywords = leukocytes (Clic here for more details about this article) |
6/9. Clinical and biochemical changes in a child with type I mucopolysaccharidosis during long-term transfusion of leukocytes.The effect of two years of periodic transfusions at 2--4 month intervals of mixed leukocytes in a patient with Type I mucopolysaccharidosis is described. There was an increase of urinary chondroitin sulfate B after the first transfusion followed by a progressive decrease to 35% of the initial daily excretion. chondroitin sulfate AC, which was almost absent prior to the transfusions, was excreted in significant amounts after the 4th transfusion. There was a decrease of hepatosplenomegaly, kyphosis and gibbus and no changes in the other signs of the disease. Regarding stature, mental development and social behavior, the patient is developing thus far as a normal child. The early diagnosis of the disease and the immediate transfusions undoubtedly have been contributing factors to the restoration and/or maintenance of the child in an almost normal condition.- - - - - - - - - - ranking = 100.75403752052keywords = leukocytes (Clic here for more details about this article) |
7/9. Mucopolysaccharidosis type V. (Scheie syndrome). A postmortem study by multidisciplinary techniques with emphasis on the brain.Multidisciplinary studies were conducted on the brain and other tissues of patients who died with the antemortem diagnosis of mucopolysaccharidosis (MPS) of one of the following types; type V, Scheie disease (MPS-V); type I, Hurler disease (MPS-I): and type II, Hunter disease (MPS-II). The principal new finding in the brain of the patient with MPS-V is the presence of lesions in the periadventitial mesenchymal tissue of the white matter, similar to those of MPS-I, while the nerve cells in MPS-V are histologically normal, in contradistinction to MPS-I, in which the neuronal abnormality is severe. Electron microscopical studies of the brain in MPS-I demonstrated numerous complex membranous inclusions in the neurons, whereas the neurons in MPS-V contained only a small number of lipofuscin-like inclusions and typical lipofuscin granules. There was a threefold increase of glycosaminoglycans (GAG) in the brain of MPS-I, but only a slight increase in the MPS-V; GAG in the liver and spleen of all patients was noticeably increased. alpha-L-iduronidase activity was not detectable in the brain and liver of patients with MPS-I and MPS-V, thus suggesting a similar enzymatic defect.- - - - - - - - - - ranking = 0.33333333333333keywords = white (Clic here for more details about this article) |
8/9. Hurler syndrome with severe complication in post-bone marrow transplantation course: life threatening interstitial pneumonitis and hypertension.bone marrow transplantation (BMT) was performed in a 3 year old patient with Hurler syndrome. The post-BMT course was complicated by interstitial pneumonitis and severe hypertension, which were life threatening. The patient responded well to therapy and recovered. BMT in this patient resulted in significant clinical improvement in the signs and symptoms of Hurler syndrome. Biochemical improvement, including elevated alpha-L-iduronidase activity in white blood cells and decreased urinary glycosaminoglycan excretion was significant. However, skeletal and neurological impairment were not improved. We conclude that BMT for Hurler syndrome should be performed at an earlier stage, before severe neuronal damage has occurred. Moreover, BMT is a high risk procedure and there will always be a possibility that life threatening complications will occur, as in our case.- - - - - - - - - - ranking = 0.33333333333333keywords = white (Clic here for more details about this article) |
9/9. Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities.A 28-month-old child was found to have several clinical features of lysosomal storage diseases, including: coarse facies, hepatosplenomegaly, lumbar kyphosis due to hypoplastic beaked L1 and L2 vertebral bodies, vacuolated lymphocytes in blood smears and rare foamy hystiocytes in bone marrow. However, no signs of neurological or ocular abnormalities were detected. A beta-galactosidase deficiency was demonstrated in leukocytes and cultured skin fibroblasts, with a residual activity toward 4-methylumbelliferyl-beta-galactopyranoside ranging between 5 and 15% of the normal mean. Normal activities were found for several other lysosomal acid hydrolases. beta-galactosidase activities in leukocytes and cultured skin fibroblasts from both parents were within the normal ranges. The patient seems to represent an atypical expression of acid beta-galactosidase deficiency, since his clinical picture does not exaclty correspond to that of either the two classical types of GM1-gangliosidosis or other atypical patients reported in the literature havining beta-galactosidase deficiency.- - - - - - - - - - ranking = 40.301615008208keywords = leukocytes (Clic here for more details about this article) |