Skip to main content

Advertisement

SpringerLink
Log in

Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III

  • Scientific Article
  • Published:
Skeletal Radiology Aims and scope Submit manuscript

Abstract

Objective

The present study aims to provide orientation for clinicians and radiologists to recognize the most prevalent findings leading to diagnosis in mucolipidosis from a description of the natural history of five Brazilian cases.

Materials and methods

We conducted an observational and retrospective study of five patients with clinical and radiological diagnosis of mucolipidosis. Clinical evaluation consisted of information obtained from records and including physical, neurologic, and dysmorphic evaluations. Radiologic studies consisted of complete skeletal radiographs of all patients. Enzyme assessment was performed for confirmation of the diagnosis.

Results

The five patients were referred for genetic evaluation due to disproportionate short stature with short trunk accompanied by waddling gait. Age at referral varied from 11 months to 28 years. The most prevalent findings were joint restriction (4/5 patients), neuropsychomotor developmental delay (3/5), coarse facies (2/5), hypertrophic cardiomyopathy (2/5), and mental retardation (1/4 patients). The most common radiological findings were anterior beaking of the vertebral bodies (5/5), shallow acetabular fossae (5/5), epiphyseal dysplasia (5/5), platyspondyly (4/5), pelvic dysplasia (4/5), decreased bone mineralization (4/5), scoliosis (3/5), wide and oar-shaped ribs (3/5), generalized epiphyseal ossification delay (3/5), and hypoplasia of basilar portions of ilea (3/5). Enzyme assessment showed α-iduronidase, α-mannosidase, β-glucuronidase, hexosaminidase A, and total hexosaminidase increased in plasma and normal glycosaminoglycans concentration. One patient was clinically classified as ML II and four patients as ML III.

Conclusions

The follow-up of five patients showed the typical clinical and radiological findings allowing the diagnosis, thus improving clinical management and providing adequate genetic counseling. Clinicians and radiologists can take advantage of the information from this work, enhancing their differential diagnosis ability.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  1. Fuller M, Meikle PJ, Hopwood JJ. Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 2. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11603/.

    Google Scholar 

  2. Singh A, Prasad R, Gupta AK, et al. I cell disease (mucolipidosis II alpha/beta): from screening to molecular diagnosis. Indian J Pediatr. 2016;84(2):144–6.

    Article  Google Scholar 

  3. Leroy JG, Ho MW, MacBrinn MC, et al. I-cell disease: biochemical studies. Pediatr Res. 1972;6(1):752–7.

    Article  CAS  Google Scholar 

  4. Saudubray JM, Baumgartner MR, Walter J. Inborn metabolic disease diagnosis and treatment. 6th ed. New York: Springer-Verlag Berlin Heidelberg; 2016. p. 587–8.

    Book  Google Scholar 

  5. Hennekam RCM, Krantz ID, Allason JE. Metabolic disorders. Gorlin’s syndromes of the head and neck. 5th ed. Oxford: New York; 2010. p. 177–81.

    Google Scholar 

  6. Spranger JW. Bone Dysplasias—an atlas of genetic disorders of skeletal development. 3rd ed. Oxford: New York; 2012. p. 595–604.

    Book  Google Scholar 

  7. Nyhan WL, Barshop BA, Ozand PT. Atlas of metabolic diseases. 2nd ed. New York: Oxford; 2005. p. 553–65.

    Google Scholar 

  8. Maroteaux P, Lamy M. Hurler’s pseudo-polydystrophy. Presse Med. 1966;74(55):2889–92.

    CAS  PubMed  Google Scholar 

  9. Robinson C, Baker N, Noble J, et al. The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. J Inherit Metab Dis. 2002;25(8):681–93.

    Article  CAS  Google Scholar 

  10. Lai LM, Lachman RS. Early characteristic radiographic changes in mucolipidosis II. Pediatr Radiol. 2016;46(12):1713–20.

    Article  Google Scholar 

  11. Kollmann K, Pestka JM, Kühn SC, et al. Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. EMBO Mol Med. 2013;5(12):1871–86.

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank the patients and their respective families for the participation in this study.

Author information

Authors and Affiliations

  1. Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP), São Paulo, Brazil

    José Ricardo Magliocco Ceroni, Gustavo Marquezani Spolador, Diana Salazar Bermeo, Rachel Sayuri Honjo, Débora Romeo Bertola & Chong Ae Kim

  2. Unidade de Radiologia, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP), São Paulo, Brazil

    Luiz Antonio Nunes de Oliveira

  3. Centro de Pesquisas sobre o Genoma Humano e Celulas-Tronco (CEGH-CEL), Instituto de Biociencias (IB), São Paulo, Brazil

    Débora Romeo Bertola

Authors
  1. José Ricardo Magliocco Ceroni
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Gustavo Marquezani Spolador
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Diana Salazar Bermeo
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Rachel Sayuri Honjo
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Luiz Antonio Nunes de Oliveira
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Débora Romeo Bertola
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Chong Ae Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to José Ricardo Magliocco Ceroni.

Ethics declarations

Conflict of interest

The authors declare that they have no conflicts of interest.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Ceroni, J.R.M., Spolador, G.M., Bermeo, D.S. et al. Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III. Skeletal Radiol 48, 1201–1207 (2019). https://doi.org/10.1007/s00256-019-3159-x

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00256-019-3159-x

Keywords

Search

Navigation