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

• Published in: Pediatric radiology Vol. 53; no. 5; pp. 971 - 983
• Main Authors: Padash, Sirwa, Obaid, Haron, Henderson, Robert D. E., Padash, Yaseen, Adams, Scott J., Miller, Stephen F., Babyn, Paul
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01-05-2023; Springer Nature B.V
• Subjects: Airway management; Axial skeleton; Bone and Bones; Bone dysplasia; Bones; Central nervous system diseases; Compression; Diagnosis; Disorders; Dysostosis; Galactosidase; Gene therapy; Genetic disorders; Genetic diversity; Glycosaminoglycans; Glycosaminoglycans - metabolism; Glycosaminoglycans - therapeutic use; Health services; Hereditary diseases; Humans; Hurler's syndrome; Hypoplasia; Imaging; Medicine; Medicine & Public Health; Metabolic disorders; Metabolic pathways; Morbidity; Mucopolysaccharidosis; Mucopolysaccharidosis IV - diagnostic imaging; Mucopolysaccharidosis IV - drug therapy; N-Acetylgalactosamine; Neuroradiology; Nuclear Medicine; Oncology; Osteochondrodysplasias; Pediatrics; Phenotypes; Radiology; Review; Skeleton; Spinal cord; Spine; Subgroups; Ultrasound; Vertebrae; β-Galactosidase; Radiography; Morquio-Brailsford syndrome; Morquio syndrome; Mucopolysaccharidosis; Spondylo-epi-metaphyseal dysplasias; Children; Skeletal dysplasia
• ISSN: 1432-1998; 0301-0449; 1432-1998
• DOI: 10.1007/s00247-022-05585-3

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.