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

  • José Ricardo Magliocco CeroniEmail author
  • Gustavo Marquezani Spolador
  • Diana Salazar Bermeo
  • Rachel Sayuri Honjo
  • Luiz Antonio Nunes de Oliveira
  • Débora Romeo Bertola
  • Chong Ae Kim
Scientific Article
  • 29 Downloads

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.

Keywords

Lysosomal storage disease Mucolipidosis II Mucolipidosis III I-cell disease Skeletal dysplasia Dysostosis multiplex 

Notes

Acknowledgements

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

Compliance with ethical standards

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.

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Copyright information

© ISS 2019

Authors and Affiliations

  • José Ricardo Magliocco Ceroni
    • 1
    Email author
  • Gustavo Marquezani Spolador
    • 1
  • Diana Salazar Bermeo
    • 1
  • Rachel Sayuri Honjo
    • 1
  • Luiz Antonio Nunes de Oliveira
    • 2
  • Débora Romeo Bertola
    • 1
    • 3
  • Chong Ae Kim
    • 1
  1. 1.Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP)São PauloBrazil
  2. 2.Unidade de Radiologia, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP)São PauloBrazil
  3. 3.Centro de Pesquisas sobre o Genoma Humano e Celulas-Tronco (CEGH-CEL), Instituto de Biociencias (IB)São PauloBrazil

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