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MRI findings of the cervical spine in patients with mucopolysaccharidosis type VI: relationship with neurological physical examination

Lins, C. Freitas ; de Carvalho, T. Lacerda ; de Moraes Carneiro, E. Ribeiro ; da Costa Mariz Filho, P.J. ; Dias Mansur, M.C. ; dos Santos Moraes, R. ; Matos, M. Almeida

Clinical radiology, 2020-06, Vol.75 (6), p.441-447 [Periódico revisado por pares]

England: Elsevier Ltd

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  • Título:
    MRI findings of the cervical spine in patients with mucopolysaccharidosis type VI: relationship with neurological physical examination
  • Autor: Lins, C. Freitas ; de Carvalho, T. Lacerda ; de Moraes Carneiro, E. Ribeiro ; da Costa Mariz Filho, P.J. ; Dias Mansur, M.C. ; dos Santos Moraes, R. ; Matos, M. Almeida
  • Assuntos: Cervical Vertebrae - diagnostic imaging ; Child ; Cross-Sectional Studies ; Female ; Humans ; Magnetic Resonance Imaging - methods ; Male ; Mucopolysaccharidosis VI - diagnostic imaging ; Neurologic Examination ; Spinal Cord Compression - diagnostic imaging
  • É parte de: Clinical radiology, 2020-06, Vol.75 (6), p.441-447
  • Notas: ObjectType-Article-1
    SourceType-Scholarly Journals-1
    ObjectType-Feature-2
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  • Descrição: To describe the magnetic resonance imaging (MRI) findings of the cervical spine of patients with mucopolysaccharidosis type VI (MPS VI) and correlate them with clinical manifestations. This is a cross-sectional study involving 12 patients with MPS VI. A limited neurological examination was undertaken in each patient including Tinel's test, assessment of muscle tone, and the evaluation of deep tendon reflexes. Additionally, each patient underwent cervical spine MRI to evaluate platybasia, odontoid dysplasia, periodontoid soft-tissue thickening, spinal canal stenosis, myelopathy, basilar invagination, platyspondyly, and reduction of nasopharyngeal airway. Nine patients were male (75%). The average age was 12.5 (±3.5 years). Tinel's test was negative in all patients. No muscle tone abnormalities were observed. Approximately 48% of the tested reflexes were considered abnormal, 10 of which (8.3%) were pathological occurring in five different patients (41.6%). At MRI, all patients showed periodontoid soft-tissue thickening and cervical spinal stenosis; six showed spinal cord compression and two showed myelopathy. Odontoid hypoplasia and basilar invagination were observed in nine patients. All patients with cervical stenosis on MRI had abnormal reflexes; however, only two of the six patients with evidence of cord compression on MRI had abnormal reflexes on clinical examination. The present study of 12 patients with MPS VI demonstrated that a normal neurological examination cannot confidently exclude potential cord compression in patients with this condition. MRI may aid in the timely identification of cervical spine abnormalities, and potentially play a role in lessening morbidity and mortality in patients with MPS. •Spinal cord compression could be present even in normal physical examination.•New method for measuring basilar invagination in MPS VI patients.•MRI of cervical spine in MPS VI patients may be useful to show important findings.•Glycosaminoglycan deposition may dictate spinal canal stenosis.
  • Editor: England: Elsevier Ltd
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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