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A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV)

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Abstract

Morquio syndrome, also known as Morquio-Brailsford syndrome or mucopolysaccharidosis type IV (MPS IV), is a subgroup of mucopolysaccharidosis. It is an autosomal recessive lysosomal storage disorder. Two subtypes of Morquio syndrome have been identified. In MPS IVA, a deficiency in N-acetylgalactosamine-6-sulfate sulfatase interrupts the normal metabolic pathway of degrading glycosaminoglycans. Accumulated undigested glycosaminoglycans in the tissue and bones result in complications leading to severe skeletal deformity. In MPS IVB, a deficiency in beta-galactosidase results in a milder phenotype than in MPS IVA. Morquio syndrome presents a variety of clinical manifestations in a spectrum of mild to severe. It classically has been considered a skeletal dysplasia with significant skeletal involvement. However, the extraskeletal features can also provide valuable information to guide further work-up to assess the possibility of the disorder. Although the disease involves almost all parts of the body, it most commonly affects the axial skeleton, specifically the vertebrae. The characteristic radiologic findings in MPS IV, such as paddle-shaped ribs, odontoid hypoplasia, vertebral deformity, metaphyseal and epiphyseal bone dysplasia, and steep acetabula, are encompassed in the term “dysostosis multiplex,” which is a common feature among other types of MPS and storage disorders. Myelopathy due to spinal cord compression and respiratory airway obstruction are the most critical complications related to mortality and morbidity. The variety of clinical features, as well as overlapping of radiological findings with other disorders, make diagnosis challenging, and delays in diagnosis and treatment may lead to critical complications. Timely imaging and radiologic expertise are important components for diagnosis. Gene therapies may provide robust treatment, particularly if genetic variations can be screened in utero.

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Acknowledgements

The authors gratefully acknowledge Professor Mehrzad Mehdizadeh, Dr. Mostafa Zoorpaikar and the Pediatric Medical Center of the University of Tehran, Iran, for providing us with a rich radiographic collection of Morquio syndrome and the images presented in this work.

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Authors and Affiliations

  1. Department of Medical Imaging, University of Saskatchewan, 103 Hospital Drive, Saskatoon, Saskatchewan, S7N 0W8, Canada

    Sirwa Padash, Haron Obaid, Robert D. E. Henderson, Scott J. Adams & Paul Babyn

  2. Department of Radiology, Kurdistan University of Medical Sciences, Kurdistan, Iran

    Yaseen Padash

  3. Le Bonheur Children’s Hospital and University of Tennessee Health Science Center, Memphis, TN, USA

    Stephen F. Miller

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  1. Sirwa Padash
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Correspondence to Robert D. E. Henderson.

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As the images provided in this work formed part of an educational collection at the University of Tehran, Institutional Review Board ethics approval was waived.

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Padash, S., Obaid, H., Henderson, R.D.E. et al. A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV). Pediatr Radiol 53, 971–983 (2023). https://doi.org/10.1007/s00247-022-05585-3

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