Mucopolysaccharidosis: MRI Study
نویسندگان
چکیده
منابع مشابه
Mucopolysaccharidosis VI
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysp...
متن کاملProspective study of 11 Brazilian patients with mucopolysaccharidosis II.
OBJECTIVE To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period. METHODS Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospital de Clínicas de Porto Alegre. The initial assessment and the assessment at 12 months included: anamnesis, physical examination, abdominal nuclea...
متن کاملA clinical study of 77 patients with mucopolysaccharidosis type II.
AIM This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). METHODS Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or their families, and physical examination of the patients. RESULTS Mean birth weight was 3360 g, median...
متن کاملThe neurobehavioral phenotype in mucopolysaccharidosis Type IIIB: An exploratory study
OBJECTIVES Our goal was to describe the neurobehavioral phenotype in mucopolysaccharidosis Type IIIB (MPS IIIB). Parents report that behavioral abnormalities are a major problem in MPS III posing serious challenges to parenting and quality-of-life for both patient and parent. Our previous research on MPS IIIA identified autistic symptoms, and a Klüver-Bucy-type syndrome as indicated by reduced ...
متن کاملOsteochondrodystrophia Deformans with Mucopolysaccharidosis.
In 1929, Morquio described a peculiar skeletal disease, which he called familial osseous dystrophy. The disease develops gradually after the first year of life and is characterized by dwarfism with short neck, deformed chest with protruding sternum, deformed legs with pronounced genu valgum, and broad flat feet. The skull and face are normal and the intelligence is normal. The disease is often ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1992
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-6-9-6