We present a case of type II mucopolysaccharidosis in which the diagnosis was delayed until the onset of cervical myelopathy in adulthood. Radiographic features were characteristic, with striking dural thickening shown on CT and MR imaging.

_______________________________ 155 Introduction ______________________________ 155 Observations _______________________________ 155 Comparison with 1968 slippage __________________ 157 Similarities ______________________________ 157 Differences ________________________________ 157 Discussion ________________________________ 157 Acknowledgments -_________________________^_ 159 References cited ...

A 2-year-old boy presented with delayed motor skills and language since birth. Family history disclosed consanguineous parents. Examination showed global muscular hypotonia, optic atrophy, oculomotor apraxia, and normal head circumference. Brain MRI showed optic atrophy and macrocerebellum (figure). Laboratory tests revealed deficient activity of a-L-iduronidase in peripheral blood leukocytes a...

INTRODUCTION We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive manifestation of mucopolysaccharidosis type II (Hunter syndrome). CASE PRESENTATION A 10-year-old East Asian boy presented with abdominal distension of fiv...

We have characterized a new mutant mouse that has virtually no /-glucuronidase activity. This biochemical defect causes a murine lysosomal storage disease that has many interesting similarities to human mucopolysaccharidosis type VII (MPS VII; Sly syndrome; fl-glucuronidase deficiency). Genetic analysis showed that the mutation is inherited as an autosomal recessive that maps to the fl-glucuron...

A rat colony with mucopolysaccharidosis VI was established and the clinical, pathological, and biochemical features were characterized. Affected rats had facial dysmorphia, dysostosis multiplex, and increased urinary excretion of glucosaminoglycans (GAGs). Ultrastructural studies revealed storage of GAGs throughout the reticuloendothelial cells, cartilage, and other connective tissues, but no d...

Mucopolysaccharidosis type IIIC (MPSIIIC) is a rare subtype of mucopolysaccharidosis disorder family caused by mutations in heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. MPSIIIC is subdivided into four subtypes which have overlapping features, and are indistinguishable at clinical level. In populations with high consanguineous marriage rate, homozygosity mapping can be a good c...