Journal of mucopolysaccharidosis and rare diseases

Association for Research of MPS and Rare Diseases (뮤코다당증연구학회)
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Skeletal Manifestations of Mucolipidosis II/III

  • Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2016.06.16
  • Accepted : 2016.06.20
  • Published : 2016.06.30
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Abstract

Mucolipidosis (ML) is a kind of skeletal dysplasia. Characteristic X-ray findings of the bone may contribute to the early diagnosis and treatment of ML II/III. Skeletal radiographs show distinctive patterns at different ages: neonatal hyperparathyroidism, osteodystrophy (similar to chronic osteitis fibrosa cystica), and dysostosis multiplex. Patients with ML II/III show a mixture of osteodystrophic bone changes and atypical changes of dysostosis multiplex: proximal pointing of the metacarpals in the wrist, dysplastic changes in the lower third of the ilia, marked broadening of the ribs becoming oar-shaped, and beaking of the lower thoracic and lumbar vertebrae. In ML II, the osteodystrophy has clinical and radiographic features of neonatal hyperparathyroidism. In some neonatal subjects, chemical hyperparathyroidism is also demonstrated. After transient hyperparathyroidism in newborns, the progressive osteitis fibrosa cystica develops from 3-6 months of age. Patients with ML III show prominent skeletal involvement, particularly the destruction of vertebral bodies and the femoral heads. Intravenous pamidronate treatment is well tolerated, and it can produce clinical effects, with a reduction in bone pain and improvements in mobility in patients with ML III. In this review, the skeletal manifestations of ML II and III are investigated.

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References

  1. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54. https://doi.org/10.1001/jama.281.3.249
  2. Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, et al. Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A 2008;146A:512-3. https://doi.org/10.1002/ajmg.a.32193
  3. Sly W, Sundaram V. Genetic and metabolic diseases in pediatrics. London 1985:91-110.
  4. Okada S, Owada M, Sakiyama T, Yutaka T, Ogawa M. Icell disease: clinical studies of 21 Japanese cases. Clin Genet 1985;28:207-15.
  5. Kelly TE, Thomas GH, Taylor HA Jr., McKusick VA, Sly WS, Glaser JH, et al. Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. Johns Hopkins Med J 1975;137:156-75.
  6. Poenaru L, Castelnau L, Tome F, Boue J, Maroteaux P. A variant of mucolipidosis. II. Clinical, biochemical and pathological investigations. Eur J Pediatr 1988;147:321-7. https://doi.org/10.1007/BF00442708
  7. Spranger J. Bone dysplasia ‘families’. Pathol Immunopathol Res 1988;7:76-80. https://doi.org/10.1159/000157098
  8. Kornfeld S, Sly W. I-cell disease and Pseudo-Hurler Polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. The Metabolic and Molecular Bases of Inherited Disease 2001;3469-82.
  9. Pazzaglia UE, Beluffi G, Bianchi E, Castello A, Coci A, Marchi A. Study of the bone pathology in early mucolipidosis II (I-cell disease). Eur J Pediatr 1989;148:553-7. https://doi.org/10.1007/BF00441557
  10. Unger S, Paul DA, Nino MC, McKay CP, Miller S, Sochett E, et al. Mucolipidosis II presenting as severe neonatal hyperparathyroidism. Eur J Pediatr 2005;164:236-43. https://doi.org/10.1007/s00431-004-1591-x
  11. Gelb BD, Shi GP, Chapman HA, Desnick RJ. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 1996;273:1236-8. https://doi.org/10.1126/science.273.5279.1236
  12. Ruivo R, Anne C, Sagne C, Gasnier B. Molecular and cellular basis of lysosomal transmembrane protein dysfunction. Biochim Biophys Acta 2009;1793:636-49. https://doi.org/10.1016/j.bbamcr.2008.12.008
  13. Robinson C, Baker N, Noble J, King A, David G, Sillence D, et al. The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. J Inherit Metab Dis 2002;25:681-93. https://doi.org/10.1023/A:1022935115323
  14. Cavalcante WC, Santos LC, Dos Santos JN, de Vasconcellos SJ, de Azevedo RA, Dos Santos JN. Oral findings in patients with mucolipidosis type III. Braz Dent J 2012;23:461-6. https://doi.org/10.1590/S0103-64402012000400026
  15. Simsek-Kiper PO, Topaloglu R, Sahin Y, Utine GE, Boduroglu K. Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities. Genet Couns 2013;24:7-12.
  16. Pantoja Zarza L, Diez Morrondo C. Skeletal deformities in mucolipidosis III. Reumatol Clin 2014;10:340-1. https://doi.org/10.1016/j.reuma.2013.10.001
  17. David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, et al. The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health 2010;46:316-22. https://doi.org/10.1111/j.1440-1754.2010.01715.x