Morquio B disease: a case report.
| Autor: | Gholamian T; Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Chhina H; Department of Orthopedics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada., Stockler S; Department of Biochemical Diseases, University of British Columbia, Vancouver, BC, Canada.; Department of Biochemical Diseases, BC Children's Hospital, Vancouver, BC, Canada., Cooper A; Department of Orthopedics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Department of Orthopedic Surgery, BC Children's Hospital, Vancouver, BC, Canada. |
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| Jazyk: | angličtina |
| Zdroj: | Frontiers in pediatrics [Front Pediatr] 2024 Mar 04; Vol. 12, pp. 1285414. Date of Electronic Publication: 2024 Mar 04 (Print Publication: 2024). |
| DOI: | 10.3389/fped.2024.1285414 |
| Abstrakt: | Mucopolysaccharidosis IV type B, or Morquio B disease (MBD), is an autosomal recessive disorder caused by a genetic mutation in GLB1 gene encoding for β-galactosidase on chromosome 3p22.33. β-galactosidase deficiency can result in two different conditions, GM1 gangliosidosis and MBD, of which MBD has a milder phenotype and presents later in life with keratan sulfate accumulation in the retina and cartilage. In this case report, we present a patient diagnosed with MBD at the age of 5 after initially presenting with Morquio dysostosis multiplex and characteristic radiographic findings. Genetic testing confirmed that the patient has β-galactosidase deficiency due to mutation W273l/N484K on GLB1 gene. The patient exhibited elevated mucopolysaccharide levels in urine at 18 mg/mmol and demonstrated an abnormal band pattern of urine oligosaccharides on electrophoresis. The activity of β-galactosidase in his white blood cells was reduced to 12.3 nmol/h/mg protein. At the time of diagnosis, the patient did not present with gait and ambulation issues, but his ability to walk progressively deteriorated in his adolescence as a result of instability and pain in the ankle, knee, and hip joints, accompanied by a global decrease in muscle strength. This case report is the first in the literature to provide an in-depth exploration of the orthopedic treatment and follow-up received by a young adolescent with MBD to provide symptom relief and improve walking ability. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (© 2024 Gholamian, Chhina, Stockler and Cooper.) |
| Databáze: | MEDLINE |
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