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Yoshio Hirabayashi - One of the best experts on this subject based on the ideXlab platform.

  • two japanese cases with aspartylglycosaminuria clinical and morphological Features
    Clinical Genetics, 2008
    Co-Authors: Kunihiro Yoshida, Nobuo Yanagisawa, Toyoaki Yamauchi, Shuichi Ikeda, Shoji Tsuji, Yoshio Hirabayashi
    Abstract:

    : Two members of a consanguineous Japanese family with a clinical picture of aspartylglycosaminuria (AGU) are described. Both patients exhibited mental retardation, Coarse Facial Features, angiokeratoma and myoclonic seizures. Biochemical studies showed elevated excretion of urinary sialyloligosaccharides and decreased activity of aspartylglycosaminidase in lymphoblasts. Morphologic studies of skin biopsy specimens showed many clear vacuoles mainly in the vascular endothelial cells and secretory cells of the sweat glands. Osmiophilic lamellar cytoplasmic inclusions were also noted in the ganglion cells in rectal biopsy. The ethnic distribution of AGU may be more widespread than previously suspected and appears not to be restricted to Finnish populations. Ours are the first Japanese patients diagnosed as AGU. We conclude that AGU should also be included in the differential diagnosis of mentally retarded patients in Asian countries.

  • A Japanese case of infantile sialic acid storage disease
    Brain and Development, 1996
    Co-Authors: Chizuko Nakano, Yoshio Hirabayashi, Kousaku Ohno, Tamami Yano, Takashi Mito, Minoru Sakurai
    Abstract:

    We report a 4-year-old Japanese girl with infantile sialic acid storage disease. She presented with failure to thrive, Coarse Facial Features, hepatosplenomegaly, severe mental retardation and spastic quadriplegia. Electron microscopic examination of cultured skin fibroblasts revealed multiple vacuoles and inclusion material representing distended lysosomes, thus suggesting a lysosomal storage disorder. A high concentration of free sialic acid was present in the urine and cultured fibroblasts, but bound sialic acid was not increased. The activity of a variety of lysosomal enzymes was not diminished. The MRI findings included brain atrophy and a diffuse high signal in the cerebral white matter and low signal in the basal ganglia on T2-weighted images. To our knowledge, this is the first case of infantile sialic acid storage disease described in a non-Caucasian family.

Klaus Rohrschneider - One of the best experts on this subject based on the ideXlab platform.

  • Late-onset retinal dystrophy in α-mannosidosis
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2005
    Co-Authors: Christina Springer, Alexander Gutschalk, Hans-michael Meinck, Klaus Rohrschneider
    Abstract:

    α-Mannosidosis is a rare lysosomal storage disease that is caused by an inherited deficiency of the lysosomal α-mannosidase. Clinical symptoms include Coarse Facial Features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly. Only few cases with ocular symptoms have been reported, mainly with lenticular opacities. We report on two brothers with complex neurological symptoms who presented with late-onset retinal dystrophy and were followed up for 6 years.

Joe T. R. Clarke - One of the best experts on this subject based on the ideXlab platform.

  • childhood onset of scheie syndrome the attenuated form of mucopolysaccharidosis i
    Journal of Inherited Metabolic Disease, 2010
    Co-Authors: Janet A Thomas, Michael Beck, Joe T. R. Clarke
    Abstract:

    Scheie syndrome is the most attenuated and rarest form of mucopolysaccharidosis type I (MPS I), an inherited lysosomal storage disorder. Only small patient series have previously been reported. Using natural history data from the uniquely large population of 78 Scheie patients enrolled in the MPS I Registry, we characterized the onset and prevalence of clinical manifestations and explored reasons for delayed diagnosis of the disease. Median patient age was 17.5 years; 46% of the patients were male, and 88% were Caucasian. Of 25 MPS I-related clinical Features, cardiac valve abnormalities, joint contractures, and corneal clouding were each reported by >80% and all three by 53% of patients. Carpal tunnel syndrome, hernia, Coarse Facial Features, and hepatomegaly were each reported by >50% of patients. Age at onset of the clinical Features varied widely between individuals, but the median age at onset was 3 years for hernia and between 5 and 12 years for most Features, including Coarse Facial Features, hepatomegaly, joint contractures, bone deformities, cardiac valve abnormalities, cognitive impairment, and corneal clouding. Carpal tunnel syndrome, cardiomyopathy, and myelopathy arose more commonly during adolescence or adulthood. Delays up to 47 years intervened between symptom onset and disease diagnosis, and the longest delays were associated with later age at symptom onset and symptom onset before 1980. In summary, Scheie syndrome usually emerges during childhood, and recognition of attenuated MPS I requires awareness of the multisystemic disease manifestations and their diverse presentation. Given the availability of etiologic treatment, prompt diagnosis is important.

Amar Udare - One of the best experts on this subject based on the ideXlab platform.

Michael Beck - One of the best experts on this subject based on the ideXlab platform.

  • childhood onset of scheie syndrome the attenuated form of mucopolysaccharidosis i
    Journal of Inherited Metabolic Disease, 2010
    Co-Authors: Janet A Thomas, Michael Beck, Joe T. R. Clarke
    Abstract:

    Scheie syndrome is the most attenuated and rarest form of mucopolysaccharidosis type I (MPS I), an inherited lysosomal storage disorder. Only small patient series have previously been reported. Using natural history data from the uniquely large population of 78 Scheie patients enrolled in the MPS I Registry, we characterized the onset and prevalence of clinical manifestations and explored reasons for delayed diagnosis of the disease. Median patient age was 17.5 years; 46% of the patients were male, and 88% were Caucasian. Of 25 MPS I-related clinical Features, cardiac valve abnormalities, joint contractures, and corneal clouding were each reported by >80% and all three by 53% of patients. Carpal tunnel syndrome, hernia, Coarse Facial Features, and hepatomegaly were each reported by >50% of patients. Age at onset of the clinical Features varied widely between individuals, but the median age at onset was 3 years for hernia and between 5 and 12 years for most Features, including Coarse Facial Features, hepatomegaly, joint contractures, bone deformities, cardiac valve abnormalities, cognitive impairment, and corneal clouding. Carpal tunnel syndrome, cardiomyopathy, and myelopathy arose more commonly during adolescence or adulthood. Delays up to 47 years intervened between symptom onset and disease diagnosis, and the longest delays were associated with later age at symptom onset and symptom onset before 1980. In summary, Scheie syndrome usually emerges during childhood, and recognition of attenuated MPS I requires awareness of the multisystemic disease manifestations and their diverse presentation. Given the availability of etiologic treatment, prompt diagnosis is important.

  • Inter- and intrafamilial variability in mucolipidosis II (I-cell disease).
    Clinical Genetics, 2008
    Co-Authors: Michael Beck, Rita Barone, R. Hoffmann, W. Kratzer, Th. Rakowsky, F. Nigro, Agata Fiumara
    Abstract:

    In this paper nine patients with mucolipidosis II (I-cell disease) are described. They had clinical Features commonly found in mucolipidosis II, including disproportionate dwarfism, Coarse Facial Features and mental retardation. However, there was remarkable variability in age of onset, organ manifestation and radiological findings. Some had unusual clinical symptoms including pericardial effusion and profound brain atrophy. Striking differences in phenotypic expression were also seen in two affected siblings. Clinical heterogeneity is observed not only in mucolipidosis II but also in many other lysosomal storage disorders. The factors that may contribute to this clinical diversity are discussed.