11/51. pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation.We present a patient with MPS IH, homozygous for the W402X mutation. The patient was treated by bone marrow transplantation at age 14 months. The patient became pregnant at age 21 years. Because of concerns about her own health, the patient opted for a termination.- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
12/51. Animal models for lysosomal storage diseases: a new case of feline mucopolysaccharidosis vi.Two long-haired Siamese cats are reported with clinical manifestations of human mucopolysaccharidosis vi (Maroteaux-Lamy disease): facial dysmorphia, dysostosis multiplex, paralysis. urine of the two affected animals contained a high concentration of glycosaminoglycans, as detected by the dimethylmethylene blue test. Qualitative analysis, performed by thin-layer chromatography of the cetylpyridinium chloride-precipitable material, showed dermatan sulphate. Excessive incorporation of [35S]sulphate in the intracellular mucopolysaccharide of cultured fibroblasts and deficiency of arylsulphatase B in such cells indicate that these cats are affected by Maroteaux-Lamy disease. They should thus be considered the first European case of feline mucopolysaccharidosis vi.- - - - - - - - - - ranking = 1.5keywords = mucopolysaccharidosis (Clic here for more details about this article) |
13/51. Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study.BACKGROUND: mucopolysaccharidoses are heritable, metabolic diseases caused by deficiency in an activity of one of specific lysosomal enzymes involved in degradation of mucoplysaccharides (glycosaminoglycans). Among many medical problems of patients with mucopolysaccharidoses, there are frequent episodes of diarrhea of unknown etiology. CASE PRESENTATION: A girl, diagnosed enzymatically for mucopolysaccharidosis type I (deficiency of alpha-L-iduronidase) at the age of 3 years and 9 months, was investigated until the age of 5 years and 4 months. Frequent loose stools and episodes of diarrhea, often accompanied by vomiting, were encountered. Detailed microbiological analyses were performed and atypical microbial infections (most often enetropathogenic escherichia coli, but also other species, like pseudomonas aeruginosa or staphylococcus aureus, as well as adenoviruses) of the digestive tract were found in most severe diarrhea episodes. Often, isolations of pathogenic bacterial strains from stools of the investigated patient suffering from diarrhea were not obvious during the first screening, and only detailed microbiological studies, including re-isolation of colonies, gave the results of isolation of particular pathogenic strains (especially in the case of enetropathogenic E. coli). CONCLUSION: We conclude that atypical microbial infections of digestive tract may contribute significantly to diarrhea in mucopolysaccaridosis patients. Since isolated strains were not typical and their isolation was often possible only after detailed investigation (not during a standard screening), such atypical microbial infections of digestive tract of mucopolysaccharidosis patients could be usually overlooked to date. Importantly, these atypical infections could be effectively treated with antimicrobial agents.- - - - - - - - - - ranking = 1.5keywords = mucopolysaccharidosis (Clic here for more details about this article) |
14/51. Changes in hair morphology of mucopolysaccharidosis i patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme).mucopolysaccharidoses (MPS) are heritable, metabolic diseases caused by accumulation of mucopolysaccharides (glycosaminoglycans, GAGs) in lysosomes. This accumulation is due to a deficiency in one of several specific enzymes involved in the degradation of GAGs. MPS type I (MPS I) is caused by low or undetectable activity of alpha-L-iduronidase, an enzyme involved in removing the terminal iduronic acid residues from heparan and dermatan sulfate. Recently, an enzyme replacement therapy (ERT) for MPS I, based on administration of recombinant human alpha-L-iduronidase (laronidase, Aldurazyme), became available. The assessment of efficacy of ERT is especially important because MPS I is a highly variable and very rare disease, and the clinical trials involved relatively low number of patients. Among various significant clinical improvements during ERT, remarkable changes in hair morphology were noted. Detailed studies of hair samples from one patient, who did not have a hair cut from the beginning of ERT to the end of this study, and supported by results obtained for two other patients, revealed hair shaft structural abnormalities in MPS I hair. These hair abnormalities disappeared upon treatment with Aldurazyme. Although hair morphology is of limited clinical importance, the data suggest that changes in this parameter could be a useful, additional tool for a rapid, non-invasive, preliminary assessment of ERT efficacy.- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
15/51. anesthesia for an adult with mucopolysaccharidosis i.We describe the anesthetic management difficulties of a man with mucopolysaccharidosis i. We also briefly review the anesthesia literature related to this disease.- - - - - - - - - - ranking = 1.25keywords = mucopolysaccharidosis (Clic here for more details about this article) |
16/51. Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I.We present a patient on enzyme replacement therapy who showed rapid deterioration when laronidase was discontinued owing to pregnancy.- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
17/51. Hurler's syndrome: dental findings in a case treated with bone marrow transplantation in infancy.Hurler's syndrome, also known as mucopolysaccharidosis i (MPS I-H), is a rare condition inherited as an autosomal recessive trait. It is caused by a deficiency in alpha-L-iduronidase, an enzyme that participates in the degradation of the glycosaminoglycans (GAGs) heparin sulphate and dermatan sulphate. Children with Hurler's syndrome appear nearly normal at birth but, left untreated, show a progressive mental and physical deterioration caused by a build-up of GAGs in all organs of the body. death is often caused by cardiac or respiratory failure and usually occurs before the second decade of life. In recent years, bone marrow transplantation (BMT) has been employed in the management of patients with Hurler's syndrome. However, the dental findings observed in these cases have not previously been reported in the dental literature. Here we report a patient aged 11 years and 6 months, presented to a Specialist Paediatric dentistry Unit, who was successfully treated by BMT at 18 months of age.- - - - - - - - - - ranking = 0.25keywords = mucopolysaccharidosis (Clic here for more details about this article) |
18/51. Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.The mechanism of profound generalized iduronate sulfatase (IDS) deficiency in a developmentally delayed female with clinical Hunter syndrome was studied. methylation-sensitive RFLP analysis of dna from peripheral blood lymphocytes from the patient, using MspI/HpaII digestion and probing with M27 beta, showed that the paternal allele was resistant to HpaII digestion (i.e., was methylated) while the maternal allele was digested (i.e., was hypomethylated), indicating marked imbalance of X-chromosome inactivation in peripheral blood lymphocytes of the patient. Similar studies on dna from maternal lymphocytes showed random X-chromosome inactivation. Among a total of 40 independent maternal fibroblast clones isolated by dilution plating and analyzed for IDS activity, no IDS- clone was found. Somatic cell hybrid clones containing at least one active human x chromosome were produced by fusion of patient fibroblasts with Hprt- hamster fibroblasts (RJK88) and grown in HAT-ouabain medium. methylation-sensitive RFLP analysis of dna from the hybrids showed that of the 22 clones that retained the DXS255 locus (M27 beta), all contained the paternal allele in the methylated (active) form. No clone was isolated containing only the maternal x chromosome, and in no case was the maternal allele hypermethylated. We postulate from these studies that the patient has MPS II as a result of a mutation resulting in both the disruption of the IDS locus on her paternal x chromosome and unbalanced inactivation of the nonmutant maternal x chromosome.- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
19/51. Gross motor abilities in children with Hurler syndrome.Hurler syndrome is the most severe form of mucopolysaccharidosis type I. There is a paucity of literature reporting the gross motor abilities of children with untreated Hurler syndrome. The purpose of this case series is to describe the gross motor abilities of one male and three female children (mean age 11.4mo [SD 3.1]; range 9.5-16mo) diagnosed with Hurler syndrome. The children were assessed using the Peabody Developmental Motor Scales, 2nd edition. Gross motor delays were present in all four children at the time of assessment, and were most evident in locomotor abilities for three of the children. All four children had range of motion limitations at multiple joints. This case series provides evidence for early gross motor delays in this population, as well as evidence for specific gross motor abilities of children with untreated Hurler syndrome. It is recommended that children diagnosed with Hurler syndrome be referred to physical therapy services upon diagnosis and that physical therapists be part of the interdisciplinary team involved in the care of children with Hurler syndrome.- - - - - - - - - - ranking = 0.25keywords = mucopolysaccharidosis (Clic here for more details about this article) |
20/51. Ocular findings in four children with mucopolysaccharidosis i-Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation.PURPOSE: To present visual functions and ocular findings in four children with mucopolysaccharidosis i-Hurler (MPS I-H) treated early with stem cell transplantation (SCT). methods: Clinical ophthalmological evaluations including visual evoked potentials (VEPs) were carried out. RESULTS: stem cell transplantation was performed before 20 months of age. Ocular follow-up lasted 1.3-5.6 years (median 4.1 years). Reductions in corneal opacities were observed in all four children post-SCT, but a slight cloudiness persisted. Decreased visual acuity and high hyperopia (median 6.25 dioptres, range 4.0 D to 7.5 D spherical equivalents) were noted in all children. hyperopia was initially undetected due to dull retinal reflexes and photophobia. Two children developed esotropia, one with amblyopia. Keratometry, performed in two children, demonstrated subnormal values with a mean of 39.33 D (range 37.62-41.00 D). Visual evoked potentials and intraocular pressures were normal. Neither cataract nor dry eye were detected during follow-up. CONCLUSIONS: Early SCT appears to be beneficial in reducing, but not eliminating, corneal opacities in children with MPS I-H. Subjects are at risk of developing high hyperopia and esotropia. hyperopia might be caused by the storage of glucosaminoglucans that increase corneal rigidity, thereby straightening the curvature of the cornea and reducing refractive power. As early diagnosis and treatment are very important, paediatric ophthalmologists should remember to rule out MPS I-H in children with corneal opacities.- - - - - - - - - - ranking = 1.25keywords = mucopolysaccharidosis (Clic here for more details about this article) |
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