Morquio B disease: a case report.
Front Pediatr
; 12: 1285414, 2024.
Article
en En
| MEDLINE
| ID: mdl-38500590
ABSTRACT
Mucopolysaccharidosis IV type B, or Morquio B disease (MBD), is an autosomal recessive disorder caused by a genetic mutation in GLB1 gene encoding for ß-galactosidase on chromosome 3p22.33. ß-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 ß-galactosidase deficiency due to mutation W273l/N484K on GLB1 gene. The patient exhibited elevated mucopolysaccharide levels in urine at 18â
mg/mmol and demonstrated an abnormal band pattern of urine oligosaccharides on electrophoresis. The activity of ß-galactosidase in his white blood cells was reduced to 12.3â
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Front Pediatr
Año:
2024
Tipo del documento:
Article
País de afiliación:
Canadá
Pais de publicación:
Suiza