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Mucopolysaccharidosis

Mucopolysaccharidosis. James Montgomery December 20, 2010. Accession #: 50070. Fluffy 5 month old, male Collie mix Painful joints Abnormal gait Corneal edema and corneal dystrophy. Accession #: 50070 Joint Survey. Epiphyseal dysplasia. Joint effusion. Bilateral coxofemoral

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Mucopolysaccharidosis

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  1. Mucopolysaccharidosis James Montgomery December 20, 2010

  2. Accession #: 50070 • Fluffy • 5 month old, male Collie mix • Painful joints • Abnormal gait • Corneal edema and corneal dystrophy

  3. Accession #: 50070Joint Survey Epiphyseal dysplasia Joint effusion Bilateral coxofemoral subluxation Generalized osteopenia

  4. Differentials • Metabolic bone disorders such as mucopolysaccharidosis or congenital hypothyroidism • CBC: cytoplasmic granules in the neutrophils are consistent with lysosomal storage disease

  5. Mucopolysaccharidosis (MPS) • Rare genetic lysosomal storage diseases caused by defects in lysosomal enzymes involved in metabolism of glycosaminoglycans • Autosomal recessive • Compounds normally degraded by these enzymes accumulate intracellularly • Lysosomal degradation of these mucopolysaccharides is necessary for normal growth in developing animals • Reported in cats and dogs • Abnormal metabolism leads to chronic, progressive, multisystemic disease

  6. Mucopolysaccharidosis (MPS) • More than 10 types have been recognized • Cats • I, VI (mainly Siamese cats, but also DSH), and VII • Dogs • I, II, IIIA, IIIB, VI, and VII

  7. MPS Clinical Manifestations • Affected animals are often stunted and lame and have visual deficits • Disproportionate dwarfism • Facial dysmorphia (broad maxilla, widespread eyes, flat nose, and short ears) • Joint laxity resulting in hyperextension of the distal extremity joints

  8. MPS Radiographic Findings • Involve both axial and the appendicular skeleton • Generalized epiphyseal dysplasia • Delayed and incomplete mineralization of the epiphyseal cartilage model • Ossified regions of the epiphysis are smaller than normal, heterogeneous, and may be granular in appearance • Vertebral bodies are short and cuboid • Short, flattened maxilla • Small or absent frontal sinuses • Hip subluxation • Generalized osteopenia

  9. MPS Diagnosis • Radiographic appearance • Metachromatic inclusions in peripheral leukocytes • Urinary excretion of chondroitin sulfate • Genetic tests can distinguish carrier dogs and cats from normal animals

  10. MPS Treatment • Enzyme replacement • Bone marrow transplantation • Somatic cell gene transfer • Overall prognosis is grave • Progressive disease  pain meds to maintain quality of life for as long as possible

  11. References • Johnson KA and Watson ADJ. Skeletal Diseases. In Ettinger SJ and Feldman EC, eds. Textbook of Veterinary Internal Medicine, 6thed (St. Louis, MO: Elsevier Saunders, 2005) pp. 1965-91. • Packer RA. Storage Diseases. In Côté E, ed. Clinical Veterinary Advisor (St. Louis, MO: Mosby Elsevier, 2007) pp. 1041-3. • Wisner ER and Pollard RE. Orthopedic Diseases of Young and Growing Dogs and Cats. In Thrall DE, ed. Textbook of Veterinary Diagnostic Imaging, 5thed (St. Louis, MO: Saunders Elsevier, 2007) pp. 268-83.

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