Abstract

BESSE, Micaela et al. Mucopolisacaridosis tipo VI: a propósito de un caso. Rev. Asoc. Argent. Ortop. Traumatol. [online]. 2023, vol.88, n.2, pp.187-198. ISSN 1852-7434.  http://dx.doi.org/https://doi.org/10.15417/issn.1852-7434.2023.88.2.1600.

Mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome, is caused by a deficiency of the arylsulfatase B enzyme, which causes intracellular accumulation of dermatan sulfate. The risk of spinal cord compression is particularly high and frequent at the occipitocervical junction. Enzyme replacement therapy has been essential for patients with this disease; however, it has no effect on skeletal abnormalities, and its impact on spinal stability is still under study. An annual examination (neurological evaluation, radiography, magnetic resonance imaging, and somatosensory evoked potentials) is recommended. In case of anomalies, it should be repeated every 6 months. Despite the high anesthetic risk, myelopathy and progressive symptoms indicate the need for surgical decompression. We present the case of a 12-year-old girl with mucopolysaccharidosis type VI treated with enzyme replacement therapy since the age of 7, who came to the consultation with symptoms compatible with progressive high cervical myelopathy. She underwent occipitocervical decompression and fusion with enlargement of the foramen magnum. This disease is rare; therefore, multidisciplinary patient follow-up is imperative, as well as knowing the risk of spinal cord compression and its timely surgical treatment by spinal surgeons.

Keywords : Mucopolysaccharidosis; Maroteaux-Lamy syndrome; spinal cord compression; myelopathy.

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