Multilevel myelopathy in Maroteaux–Lamy syndrome and review of the literature

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

“…MR images show abnormal signal intensity at the level of myelopathy, usually in the cervical area, and the thoracolumbar region can be also affected. 59 Mut et al 63 described the case of an 18-year-old male patient with Maroteaux-Lamy syndrome who exhibited multilevel myelopathy affecting both cervical and thoracolumbar spinal regions. Spinal cord compression is believed to be multifactorial, but there are 2 main proposed physiopathologic mechanisms.…”

“…16,55,61 The second mechanism proposes vertebral anomalies leading to deformities and atlantoaxial instability due to dysfunction of the odontoid process as etiopathologic mechanisms for cord compression. 50,55,57,61,63,64 Odontoid abnormalities can vary from complete aplasia 56 to varying degrees of hypoplasia, and have been described mostly in patients with MPS IV, VI, and I. 16,30,58,60,63 Using MR imaging to screen patients with MPS for evidence of spinal cord compression is critical and can be very helpful in optimizing the time for surgical intervention because those patients have significant problems related to intubation and show high rates of mortality due to upper respiratory passage abnormalities.…”

Perioperative Medullary Complications in Spinal and Extra-Spinal Surgery in Mucopolysaccharidosis: A Case Series of Three Patients

“…Perioperative monitoring of motor and sensory evoked potentials is an essential procedure in these risky surgeries (Mut et al 2005;Tong et al 2012). Nevertheless, our second case shows that it is not infallible, which makes us to hypothesize that the thickening of perimedullary tissue could alter data from the potentials.…”

“…The infiltrative hypertrophy of the dura mater results in compressive spinal sheathing, without systematic bone canal narrowing. Hypertrophy of the ligamentum flavum has already been reported twice in the literature as being responsible for spinal compression in Type VI MPS (Sheridan et al 1992;Mut et al 2005). Furthermore, spinal sheathing is a factor in the onset of spinal ischemia from compression of the spinal arteries.…”

Avaliação neurológica e de neuroimagem em pacientes com mucopolissacaridoses

“…Dois principais mecanismos fisiopatológicos estão relacionados à compressão medular: O primeiro está relacionado à deposição de GAGs e infiltração da dura-máter e tecidos adjacentes pela massa de tecido flexível periodontal; o segundo mecanismo seria a instabilidade da articulação atlanto-axial associada às diversas malformações possíveis de serem encontradas nos corpos vertebrais . Em alguns pacientes o espessamento do ligamento amarelo também pode contribuir para a compressão medular, como observado em seis pacientes num estudo incluindo 11 casos de MPS VI, nos quais os autores encontraram compressão cervical em por espessamento da dura-máter e do ligamento amarelo (Mut et al 2005). …”