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Morquio B disease: a case report.

Tara Gholamian1, Harpreet Chhina2, Sylvia Stockler3,4

  • 1Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.

Frontiers in Pediatrics
|March 19, 2024
PubMed
Summary
This summary is machine-generated.

Morquio B disease (MBD) is a rare genetic disorder affecting cartilage and vision. This case report details orthopedic interventions for an adolescent with MBD, aiming to improve mobility and alleviate pain.

Keywords:
MBDMorquio B diseasecase reportmucopolysaccharidosis IV type Borthopedics

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Area of Science:

  • Biochemistry
  • Genetics
  • Orthopedics

Background:

  • Mucopolysaccharidosis IV type B (MBD) is an autosomal recessive disorder stemming from GLB1 gene mutations, leading to deficient beta-galactosidase activity.
  • This deficiency causes accumulation of keratan sulfate in cartilage and retina, presenting a milder phenotype than GM1 gangliosidosis.

Observation:

  • A 5-year-old patient presented with Morquio dysostosis multiplex and characteristic radiographic findings, later diagnosed with MBD.
  • Genetic testing revealed a W273l/N484K mutation in the GLB1 gene, confirming beta-galactosidase deficiency.
  • The patient showed elevated urinary mucopolysaccharides, abnormal urine oligosaccharide electrophoresis, and reduced white blood cell beta-galactosidase activity.

Findings:

  • Initially ambulatory, the patient experienced progressive gait deterioration in adolescence due to joint instability, pain, and muscle weakness.
  • This case report is the first to extensively document orthopedic treatments and follow-up for a young adolescent with MBD.

Implications:

  • Orthopedic management is crucial for symptom relief and enhancing walking ability in MBD patients.
  • Further research into long-term orthopedic outcomes and therapeutic strategies for MBD is warranted.