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Minerva Pediatrica 2020 Aug 04

DOI: 10.23736/S0026-4946.20.05645-5


lingua: Inglese

The articular and the craniocervical abnormalities are of confusing age of onset in patients with Maroteaux-Lamy disease (MPS VI)

Ali AL KAISSI 1, 2, 3 , Sergey RYABYKH 4, Polina OCHIROVA 4, Adel A. KAREEM 5, Vladimir KENIS 6, Rudolf GANGER 3, Franz GRILL 3, Susanne GERIT KIRCHER 7

1 Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK, Vienna, Austria; 2 AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria; 3 Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria; 4 Division Spine Pathology and Rare Diseases, Russian Scientific Ilizarov Center (RISC), Kurgan, Russia; 5 Pediatric Neurology Department, Welfare Teaching Hospital/Medical City Campus, Baghdad, Iraq; 6 Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Saint Petersburg, Russia; 7 Department of Medical Chemistry, Medical University of Vienna, Vienna, Austria


BACKGROUND: Maroteaux-Lamy disease (MPS Type VI) is an autosomal recessive lysosomal storage disorder. Skeletal abnormalities are vast. Early recognition may facilitate timely diagnosis and intervention, leading to improved patient outcomes. The most challenging is when patients manifest a constellation of craniocervical and articular deformities with variable age of onset.
METHODS: We collected 15 patients with MPS VI (aged from 6 years-58 years). From within our practice in Pediatric Orthopedics, we present patients with MPS type VI who were found to manifest a diverse and confusing clinical presentations of hip deformities and cervical cord compression. Stem cell transplants were proposed as treatment tool and enzyme replacement therapy has been instituted in some patients.
RESULTS: The spectrum of the clinical involvement in our group of patients was supported firstly via the clinical phenotype followed by assessment of the biochemical defect , which has been detected through the deficiency of N-acetylgalactosamine-4-sulfatase (arylsulphatase B) leading to increased excretion of dermatan sulphate. Secondly, through the molecular genetic results, which showed homozygous or compound heterozygous mutation in the ARSB gene on chromosome 5q14. Hip replacements and decompression operations have been performed to restore function and to alleviate pain in the former and life saving procedure in the latter.
CONCLUSIONS: The efforts in searching for the etiological diagnosis in patients with skeletal dysplasia/MPSs has not been rewarding as many had anticipated. This emerged from several facts such as improper clinical documentation, missing diagnostic pointers in radiographic interpretations, limited knowledge in skeletal dysplasia and its variants, and the reliance on underpowered studies. Physicians and radiologists are required to appreciate and assess the diverse phenotypic and the radiographic variability of MPS VI. The importance of considering MPS in the differential diagnosis of other forms skeletal dysplasia is mandatory. Finally, we stress that the value of early diagnosis is to overcome dreadful complications.

KEY WORDS: Maroteaux-Lamy disease (MPS Type VI); Articualr and craniocervical abnormalities; Radiology

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