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Related Experiment Videos

Bilateral patellar dislocation associated with alpha-mannosidase deficiency.

Steven S Hale1, Joshua G Bales, Seth Rosenzweig

  • 1Department of Orthopaedic Surgery, University of Tennessee, Memphis, Tennessee, USA.

Journal of Pediatric Orthopedics. Part B
|April 8, 2006
PubMed
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Mannosidosis, a rare genetic disorder, causes mannose buildup due to alpha-mannosidase deficiency. This case highlights severe joint complications like patellar dislocation and avascular necrosis in a child.

Area of Science:

  • Biochemistry
  • Genetics
  • Rheumatology

Background:

  • Mannosidosis is a rare lysosomal storage disease caused by alpha-mannosidase deficiency.
  • This deficiency impairs mannose cleavage from glycoproteins, leading to cellular mannose accumulation.
  • Accumulated mannose affects various tissues, including joints and synovium, causing skeletal abnormalities.

Observation:

  • A 9-year-old girl presented with bilateral patellar dislocation.
  • Severe synovial hypertrophy was noted in the affected joints.
  • The patient also exhibited Charcot elbow and avascular necrosis in hips and elbows.

Findings:

  • The patient's symptoms were directly linked to alpha-mannosidase deficiency.
  • The case demonstrates significant skeletal manifestations of mannosidosis.

Related Experiment Videos

  • Severe joint disease, including dislocation and necrosis, occurred secondary to the enzyme deficiency.

    • Implications:

    • This case underscores the severe orthopedic and rheumatologic impact of mannosidosis.
    • Early diagnosis and management of alpha-mannosidase deficiency are crucial for preventing debilitating joint complications.
    • Further research into therapeutic strategies for lysosomal storage diseases like mannosidosis is warranted.