Cervical decompression in mild mucopolysaccharidosis type II (Hunter syndrome)

Abstract

Three cases of mild mucopolysaccharidosis type II (Hunter syndrome) who presented with cervical cord compression are reported, with emphasis on their clinical presentations and surgical management.

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy

“…Cranio-cervical junction is thought to be less severely affected in Hunter disease than in other forms of MPS, such as the Morquio (MPS IV) and Maroteaux-Lamy (MPS VI) syndromes. However, decompression surgery has been reported also in Hunter patients (O'Brien et al 1997). Although no patient had signal abnormalities due to spinal cord compression, spinal stenosis was found in nearly half of our cases, thus underscoring the need of a careful examination of this region.…”

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

“…MPS IV, VI, and I show a high propensity for dural thickening, while this finding has also been described to a lesser extent in patients with MPS II. 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.…”

“…16,55,61 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.…”

Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome

“…The latter likely induces the formation of reactive periodontoid fibrocartilaginous tissue that eventually cause spinal stenosis and spinal cord compression. Although the rate and the severity of spinal stenosis might vary according to the MPS form and is particularly important in MPS-I, IV, and VI, also MPS-II patients have been reported, who required decompressive surgery to prevent the progression of cervical myelopathy (Ballenger et al 1980;O'Brien et al 1997;Kaendler et al 1990;Vinchon et al 1995). From a clinical point of view, myelopathy usually results in progressive gait impairment, sensory deficits, and impaired sphincter control that might be overlooked due to concomitant brain, joint, and visceral involvement.…”

“…About 10 % of MPS-II patients present with severe upper spinal canal stenosis causing spinal cord compression (Manara et al 2011). Though less frequent than in other MPS forms, such as Morquio disease, severe myelopathy requiring decompressive surgery may also occur (Ballenger et al 1980;O'Brien et al 1997;Kaendler et al 1990;Vinchon et al 1995). As the clinical manifestation of spinal cord involvement might fairly overlap with signs and symptoms of concomitant multisystem involvement, myelopathy diagnosis and monitoring are mainly based on MRI evaluation of the cranio-cervical region.…”