Cervical Spinal Cord Compression Research Articles

Bilaterally symmetrical involvement in hirayama disease: A rare presentation

Introduction: Hirayama disease (HD) or otherwise flexion cervical myelopathy is characterized by progressive muscular weakness and atrophy of the distal upper limbs most frequently seen in young males. Hirayama disease is thought to be secondary to an abnormal anterior displacement of the posterior dura with secondary compression of the lower cervical spinal cord and chronic injury to the anterior grey horn cells of cervical cord leading to localised cord atrophy. HD (brachial monomelic amyotrophy) is a unilateral or grossly asymmetric bilateral disease. Case Report: A 26­year­old male who presented with progressive weakness and wasting in the distal muscles of both the upper limbs with no sensory involvement and autonomic involvement. Clinical, radiological and electrophysiologic findings in our patient were consistent with the diagnosis of HD. The patient was advised to wear a soft cervical collar. On three month follow up the patient had shown no progression of his disease. Conclusion: There are very sparse reports of bilaterally symmetric involvement and hence we report this case as bilateral symmetric is a severe form of the classic disease which remains undiagnosed due to a common notion that it is a unilateral or grossly asymmetric disease, hence we report this case.

Functional outcome instruments used for cervical spondylotic myelopathy: interscale correlation and prediction of preference-based quality of life

Background contextThere is limited literature comparing different functional outcome measures used for cervical spondylotic myelopathy (CSM). PurposeTo determine the correlation among five functional outcome measures used in CSM patient assessment and their ability to predict preference-based quality of life (QOL). Study design/settingProspective observational study. Patient samplePatients, aged 40 to 85 years, with CSM and cervical spinal cord compression at two or more levels from degenerative spondylosis were enrolled from seven sites over a 2-year period. Outcome measuresThe modified Japanese Orthopedic Association scale, Oswestry neck disability index (Oswestry NDI or Oswestry), Nurick scale, norm-based short-form 36 physical component summary, and EuroQol-5D (EQ-5D) were collected. MethodsThe Jean and David Wallace foundation provided funding for this study. Cervical spondylotic myelopathy patients undergoing either anterior or posterior surgery were prospectively followed with five different functional outcome measures over 1 year. Correlations among scales were tested using the Spearman rank correlation test. The sensitivity and specificity of each scale for predicting the global index of the EQ-5D were determined, and receiver-operating characteristic analysis was used to compare each scale's ability to discriminate QOL. ResultsA total of 106 patients were initially enrolled; 103 were operated on for CSM and followed for 1 year. Their ages ranged from 40 to 82 years (mean 61.9), and 61.3% were men. Correlations among the various functional outcome instruments were all highly significant (p<.001), but the degree of correlation varied greatly. Correlation between the EQ-5D scale and the Nurick scale was the least (Spearman rho 0.5539); correlation was the highest with the Oswestry NDI (Spearman rho 0.8306). The Oswestry NDI also had the greatest ability to discriminate favorable from adverse QOL compared with the other outcome instruments (p=.023). ConclusionsPreference-based quality-of-life instruments, such as the EQ-5D, are important measures for studying spinal disorders. Among the various commonly used outcome instruments for CSM, the Oswestry NDI is the most predictive of preference-based QOL.

A novel experimental model of cervical spondylotic myelopathy (CSM) to facilitate translational research

Cervical spondylotic myelopathy (CSM) is the most common form of spinal cord impairment in adults. However critical gaps in our knowledge of the pathobiology of this disease have limited therapeutic advances. To facilitate progress in the field of regenerative medicine for CSM, we have developed a unique, clinically relevant model of CSM in rats. To model CSM, a piece of synthetic aromatic polyether, to promote local calcification, was implanted microsurgically under the C6 lamina in rats. We included a sham group in which the material was removed 30s after the implantation. MRI confirmed postero-anterior cervical spinal cord compression at the C6 level. Rats modeling CSM demonstrated insidious development of a broad-based, ataxic, spastic gait, forelimb weakness and sensory changes. No neurological deficits were noted in the sham group during the course of the study. Spasticity of the lower extremities was confirmed by a significantly greater H/M ratio in CSM rats in H reflex recordings compared to sham. Rats in the compression group experienced significant gray and white matter loss, astrogliosis, anterior horn cell loss and degeneration of the corticospinal tract. Moreover, chronic progressive posterior compression of the cervical spinal cord resulted in compromise of the spinal cord microvasculature, blood–spinal cord barrier disruption, inflammation and activation of apoptotic signaling pathways in neurons and oligodendrocytes. Finally, CSM rats were successfully subjected to decompressive surgery as confirmed by MRI. In summary, this novel rat CSM model reproduces the chronic and progressive nature of human CSM, produces neurological deficits and neuropathological features accurately mimicking the human condition, is MRI compatible and importantly, allows for surgical decompression.

Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome

Down syndrome, the most common chromosomal abnormality, may be associated with various neurologic complications such as moyamoya syndrome, cervical spinal cord compression due to atlantoaxial subluxation, and basal ganglia damage, as well as epileptic seizures and stroke. Many cases of Down syndrome accompanied by isolated neurologic manifestations have been reported in children; however, Down syndrome with multiple neurologic conditions is rare. Here, we have reported a case of Down syndrome in a 10-year-old girl who presented with asymptomatic moyamoya syndrome, atlantoaxial subluxation with spinal cord compression, and basal ganglia calcification. To the best of our knowledge, this is the first report of Down syndrome, in a child, which was accompanied by these 3 neurologic complications simultaneously. As seen in this case, patients with Down syndrome may have neurologic conditions without any obvious neurologic symptoms; hence, patients with Down syndrome should be carefully examined for the presence of neurologic conditions.

Immunohistochemical Profile of NF-κB/p50, NF-κB/p65, MMP-9, MMP-2, and u-PA in Experimental Cervical Spondylotic Myelopathy

The immunohistochemical profile of nuclear factor-κ B (NF-κB)/p50, NF-κB/p65, matrix metalloproteinase (MMP)-9, MMP-2, and urokinase-type plasminogen activator (u-PA) proteins was examined in spinal cord tissues coming from rabbits, which underwent chronic cervical spinal cord compression. To study the potential role of NF-κB and extracellular matrix proteins under the chronic mechanical compression of the cervical spinal cord. Cervical spondylotic myelopathy (CSM) is the most common cause of spinal cord dysfunction among adults older than 55 years. Neuronal loss, myelin destruction, axonal degeneration, and glial scar formation are the principal neuropathological features of CSM. However, the biologic pathways that lead to these features remain unclear. In this study, we used a new animal experimental model of CSM developed in our laboratory. Briefly, after posterior cervical laminectomy, gradual and progressive compression (during 20 weeks) was achieved by introducing a piece of aromatic polyether (0.07 mm thick) under the C6 lamina in 15 New Zealand rabbits. In control animals (n = 15), the aromatic polyether was implanted and then removed after 60 seconds (sham operation). The immunoreactivity of p50 and p65 subunits of NF-kB, as well as that of MMP-2, MMP-9, and u-PA, was evaluated in paraffin-embedded spinal cord sections coming from both groups. The evaluation was performed using immunohistochemistry technique and the results were analyzed using SPSS for Windows, release 12.0 (SPSS Inc., Chicago, IL). Increased immunoreactivity of both NF-κB subunits, p50 and p65, as well as MMP-2, MMP-9, and u-PA was demonstrated in animals with CSM in comparison with controls. Statistical analysis of the results revealed strong positive correlation between NF-κB subunits immunoreactivity and that of MMP-9, MMP-2, and u-PA. There is a strong correlation between the immunoexpression of NF-κB/p50, NF-κB/p65, MMP-2, MMP-9, u-PA, and CSM.

Effect of Ventral Slot Procedure on Spinal Cord Compression in Dogs with Single Static Intervertebral Disc Disease: Preliminary Findings while Evaluating a Semiquantitative Computed Tomographic Myelographic Score of Spinal Cord Compression

To (1) evaluate pre- and postoperative cervical spinal cord compression (SCC) in the context of uncomplicated ventral slot (VS) decompression using computed tomographic (CT) myelography and (2) report reliability of a semiquantitative SCC score using CT myelography. Prospective and retrospective, clinical pilot study. Dogs (n = 17) with single static intervertebral disc disease. On matched pre- and postoperative transverse CT myelographic images, degree and lateralization of extradural SCC were scored by 4 blinded independent observers, followed by consensus finding. Inter- and intraobserver variability was quantified using intraclass correlation (ICC). Nonparametric tests were performed comparing pre- and postoperative SCC, correlation with neurologic status and significance of lateralization. Because of invisible contrast agent, only 13 dogs could be fully evaluated. After VS, SCC was significantly reduced whereas neurologic function significantly improved. Ten dogs had residual compression, not affecting neurologic long-term outcome. Only preoperative compression score and neurologic status 3-7 weeks postoperatively were inversely correlated. Lateralization of SCC preoperatively did not affect postsurgical compression scores. Interobserver ICC was 0.848 and intraobserver ICC was 0.984. VS improves neurologic function but often fails at completely resolving extradural SCC. The proposed CT myelographic score is highly reliable, assuring consistency among and within observers.

Cervical Cord Compression Due to Intradiscal Gouty Tophus

We describe an unusual cause of myelopathy with a discussion of similar cases previously reported in the literature. To report a case of myelopathy due to intradiscal gouty tophus. Spinal involvement in gout is uncommon. Cervical spinal cord compression caused by gout is particularly rare. We report the case of a 71-year-old man with a history of hyperuricemia gout. Spastic quadriparesis developed for more than 4 months. Magnetic resonance image of the cervical spine revealed a herniated cervical disc at the C3-C4 level. Anterior discectomy was performed. Intradiscal chalky white granular material was found during surgery. Histological examination of the surgical specimen demonstrated a gouty tophus. The patient regained strength in all extremities in the postoperative period and required rehabilitation treatment. Spinal gout should be considered in all patients presenting myelopathy and history of gout. When progressive neurological symptoms develop, surgical decompression can provide a satisfactory outcome.

Natural Course and Prognostic Factors in Patients With Mild Cervical Spondylotic Myelopathy With Increased Signal Intensity on T2-Weighted Magnetic Resonance Imaging

A retrospective comparative study. To investigate natural course and prognostic factors in patients with mild forms of cervical spondylotic myelopathy (CSM), focusing on intramedullary increased signal intensity (ISI) on T2-weighted magnetic resonance imaging. Long-term natural course of mild forms of CSM, especially with ISI on magnetic resonance imaging, remains uncertain. Patients with CSM who visited our institution between 1992 and 2004 and did not undergo surgery at first visit were retrospectively reviewed. The inclusion criteria were as follows: (1) motor function Japanese Orthopedic Association scores of 3 or more in both upper and lower extremities and (2) cervical spinal cord compression with ISI on T2-weighted magnetic resonance imaging. There were 45 patients, with a mean follow-up period of 78 months (range, 24-208). We investigated long-term natural history by setting the timing of conversion to surgery due to neurological deterioration as an end point. We further compared prognostic parameters between patients who converted to surgery and those who continued to be followed up nonsurgically. Sixteen patients gradually deteriorated and underwent decompression surgery, whereas 27 patients did not. Apart from these, 2 patients with acute spinal cord injury after minor trauma underwent surgery. Kaplan-Meier survival analysis revealed that 82% or 56% of patients did not require surgery 5 or 10 years after the initial treatment, respectively. As for prognostic factors, Cox proportional hazard analysis revealed that total cervical range of motion (hazard ratio: 3.25), segmental kyphosis in the maximum compression segment (hazard ratio: 4.51), and local slip (hazard ratio: 4.67) were statistically significant. Fifty-six percent of patients with clinically mild CSM with ISI had not deteriorated or undergone surgery at 10 years. Large range of motion, segmental kyphosis, and instability at the narrowest canal were considered to be adverse prognostic factors.

Cerebral rheumatoid vasculitis: a case report.

IntroductionCentral nervous system involvement in rheumatoid arthritis is infrequent. The most frequent neurological manifestations of rheumatoid arthritis are peripheral neuropathy and cervical spinal cord compression due to subluxation of the cervical vertebrae. Cerebral rheumatoid vasculitis is an uncommon and serious complication which can be life-threatening.Case presentationA 52-year-old North African Tunisian Caucasian woman presented with a six-week history of headache. She had suffered seropositive and destructive rheumatoid arthritis for nine years without any extra-articular complications. Magnetic resonance imaging of the brain with the T2 sequence showed high-intensity signal images at the frontal and parietal cortico-subcortical junction suggesting hemispheric vasculitis.ConclusionsCerebral vasculitis is an infrequent complication in rheumatoid arthritis which is associated with high morbidity and in some cases can be life-threatening. Early assessment and a high index of suspicion to recognize such complications are essential in managing these patients.

154. Neurophysiological significance of the Trömner sign on the evaluation of cervical spinal cord compression

154. Neurophysiological significance of the Trömner sign on the evaluation of cervical spinal cord compression

Schwannome de la racine spinale du nerf accessoire : à propos d’une nouvelle observation

BackgroundThe accessory nerve schwannoma localized in spinal canal is extremely rare; only nine cases have been reported in the literature until now. We report a new case of schwannoma at the spinal root of accessory nerve. ObservationA young woman aged 30 had a high cervical spinal cord compression with respiratory problems. At admission, magnetic resonance imaging (MRI) showed a tumor compressing the spinal cord at C2 to the foramen magnum. The tumor was removed successfully and its origin from the left accessory nerve was confirmed peroperatively. ConclusionAlthough schwannoma of the accessory nerve is exceptional, this entity should be considered as a differential diagnosis with the other tumors of the foramen magnum.

Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alström syndrome

Alström syndrome (AS) is a rare autosomal recessive genetic disorder with multisystemic involvement characterised by early blindness, hearing loss, obesity, insulin resistance, diabetes mellitus, dilated cardiomyopathy, and progressive hepatic and renal dysfunction. The clinical features, time of onset and severity can vary greatly among different patients. Many of the phenotypes are often not present in infancy but develop throughout childhood and adolescence. Recessively inherited mutations in ALMS1 gene are considered to be responsible for the causation of AS. Musculoskeletal manifestations including scoliosis and kyphosis have been previously described. Here, we present a patient with AS who presented with cervical myelopathy due to extensive flowing ossification of the anterior and posterior longitudinal ligaments of the cervical spine resulting in cervical spinal cord compression. The presence of an auto-fused spine in an acceptable sagittal alignment, in the background of a constellation of medical comorbidities, which necessitated a less morbid surgical approach, favored a posterior cervical laminectomy decompression in this patient. Postoperatively, the patient showed significant neurological recovery with improved function. Follow-up MRI showed substantial enlargement of the spinal canal with improved space available for the spinal cord. The rarity of the syndrome, cervical myelopathy due to ossified posterior longitudinal ligament as a disease phenotype and the treatment considerations for performing a posterior cervical decompression have been discussed in this Grand Rounds' case presentation.

High Frequency of Cervical Spinal Cord Compression during Flexion in Patients with Hirayama Disease (P03.168)

High Frequency of Cervical Spinal Cord Compression during Flexion in Patients with Hirayama Disease (P03.168)

Cervical spinal cord compression as an initial presentation of prostate cancer: a case report

Prostate cancer is notorious for its atypical presentation. However, spread to the cervical spine is uncommon. We herein describe the findings in a 57-year-old African American gentleman, who presented with neck pain and right-sided weakness. Examination revealed neck tenderness with numbness in the distribution of C6 region on right side. An MRI of the neck imaged a 3.4cm extradural soft tissue mass in the C6 region extending into the spinal-canal, causing spinal cord compression. At this point, differential diagnosis included: metastatic cancer vs. chronic granulomatous vs. primary CNS lesion. Management included high dose intravenous steroids and mass resection with cervical-spine fusion. The prostate specific antigen (PSA) was 1815 ng/mL (normal less than 4 ng/mL) with a repeat value of 1666 ng/mL, and the pathology findings confirmed the mass to be metastatic prostate carcinoma. This case illustrates an unusual presentation of metastatic prostate cancer, lytic in nature, presenting as cord compression, and sparing the bone and lymph nodes in the cervical region. Metastatic lesions of prostate cancer to the bone are most often blastic rather than lytic in nature [11]. Cervical involvement is seen in only 5% of cases. Regardless of this atypical presentation, early diagnosis of cord compression is of utmost importance because neurologic status upon presentation has important prognostic value. It is important to consider prostate cancer metastasis in any compressive neuropathy, or findings of an atypical mass affecting the cervical spine.

Magnetic Resonance Diffusion Tensor Imaging in Patients With Cervical Spondylotic Spinal Cord Compression

A prospective study evaluating a cohort of patients with spondylotic cervical spine compression. To analyze the potential of diffusion tensor imaging (DTI) of the cervical spinal cord in the detection of changes associated with spondylotic myelopathy, with particular reference to clinical and electrophysiological findings. Conventional magnetic resonance imaging (MRI) may provide confusing findings because of a frequent disproportion between the degree of the spinal cord compression and clinical symptoms. The DTI is known to be more sensitive to subtle pathological changes of the spinal cord compared with conventional MRI. The DTI of the cervical spinal cord was performed within a group of 52 patients with spondylotic spinal cord compression and 13 healthy volunteers on a 1.5-T MRI scanner. All patients underwent clinical examination that differentiated between asymptomatic and symptomatic myelopathy subgroups, and 45 patients underwent electrophysiological examination. We measured the apparent diffusion coefficient and fractional anisotropy of the spinal cord at C2/C3 level without compression and at the maximal compression level (MCL). Sagittal spinal canal diameter, cross-sectional spinal cord area, and presence of T2 hyperintensity at the MCL were also recorded. Nonparametric statistical testing was used for comparison of controls with subgroups of patients. Significant differences in both the DTI parameters measured at the MCL, between patients with compression and control group, were found, while no difference was observed at the noncompression level. Moreover, fractional anisotropy values were lower and apparent diffusion coefficient values were higher at the MCL in the symptomatic patients than in the asymptomatic patients. The DTI showed higher potential to discriminate between clinical subgroups in comparison with standard MRI parameters and electrophysiological findings. The DTI appears to be a promising imaging modality in patients with spondylotic spinal cord compression. It reflects the presence of symptomatic myelopathy and shows considerable potential for discriminating between symptomatic and asymptomatic patients.

Upper Thoracic Myelopathy Caused by Delayed Neck Extensor Weakness in Myotonic Dystrophy

Myotonic dystrophy is the most common autosomal dominant myopathy in adults. Our patient, a 41 year-old female suffering from myotonic muscular dystrophy, developed upper thoracic myelopathy due to hypertrophy of the ligamentum flavum and the posterior longitudinal ligament. She had a typical hatchet face and ptosis with "head hanging forward" appearance caused by neck weakness. Motor weakness, sensory changes and severe pain below T4 level, along with urinary incontinence began 3 months ago. Genetic and electrodiagnostic studies revealed myotonic dystrophy type 1. Magnetic resonance imaging of the spine showed loss of cervical lordosis and spinal cord compression due to hypertrophied ligamentum flavum and posterior longitudinal ligament at T1 to T3 level. We concluded that her upper thoracic myelopathy was likely related to the thickness of the ligamentum flavum and posterior longitudinal ligament due to repetitive mechanical stress on her neck caused by neck muscle weakness with myotonic dystrophy.

Intervertebral disk width in dogs with and without clinical signs of disk associated cervical spondylomyelopathy

BackgroundDisk-associated cervical spondylomyelopathy (DA-CSM) is a multifactorial neurological disorder in which progressive caudal cervical spinal cord compression is mainly caused by one or more intervertebral disk protrusions. The Doberman pinscher breed seems predisposed for this condition. The underlying cause and pathophysiology of DA-CSM are currently unknown. Recently, wider intervertebral disks have been put forward as a risk factor for development of clinically relevant DA-CSM. However, little is known about other factors affecting intervertebral disk width. Therefore the aim of this study was to assess the association between intervertebral disk width, measured on magnetic resonance imaging (MRI), and clinical status, age, gender and intervertebral disk location in dogs with and without clinical signs of DA-CSM.MethodsDoberman pinschers with clinical signs of DA-CSM (N=17),clinically normal Doberman pinschers (N=20), and clinically normal English Foxhounds (N=17), underwent MRI of the cervical vertebral column. On sagittal T2-weighted images, intervertebral disk width was measured from C2-C3 to C6-C7. Intra –and interobserver agreement were assessed on a subset of 20 of the 54 imaging studies.ResultsIntervertebral disk width was not significantly different between Doberman pinschers with clinical signs of DA-CSM, clinically normal Doberman pinschers or clinically normal English Foxhounds (p=0.43). Intervertebral disk width was positively associated with increasing age (p=0.029). Each monthly increase in age resulted in an increase of disk width by 0.0057mm. Intervertebral disk width was not significantly affected by gender (p=0.056), but was significantly influenced by intervertebral disk location (p <0.0001). The assessed measurements were associated with a good intra –and interobserver agreement.ConclusionsThe present study does not provide evidence that wider intervertebral disks are associated with clinical status in dogs with and without DA-CSM. Instead, it seems that cervical intervertebral disk width in dogs is positively associated with increase in age.

Hearing Loss and Airway Problems in Children With Mucopolysaccharidoses

IntroductionMucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that cause the accumulation of glycosaminoglycans in different tissues. The onset of symptoms usually occurs in early childhood, causing problems of otitis media, hearing loss and airway obstruction in the ENT area. ObjectiveDescribing the audiological findings and airway pathology found in 9 children diagnosed as having MPS. MethodsA retrospective review was performed of the clinical and audiological findings, exploratory results and therapeutic ENT procedures for 9 children diagnosed with MPS in an ENT service at a tertiary paediatric public centre in the period 2007–2010. ResultsSubtypes found were 4 MPS type I, 2 moderate MPS type II, 1 severe MPS type II, 1 MPS type IV and 1 MPS type VI. All patients presented chronic middle ear effusions. A child developed mild bilateral sensorineural hearing loss; another case was diagnosed as mixed hearing loss. The remaining auditory pattern was moderate bilateral conductive hearing loss. Four patients showed secondary obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to Waldeyer ring hyperplasia; surgery could not be performed on one of them because of cervical spinal cord compression from mucopolysaccharide deposits. In 2 cases, there was OSAHS relapse. ConclusionsChildren with MPS are at increased risk for developing sensorineural hearing loss. The OSAHS syndrome appears in greater proportion than in the general child population, and recurrences may occur more frequently after surgery. Such children can also be risk patients in airway management.

Development and Characterization of a Novel Rat Model of Cervical Spondylotic Myelopathy: The Impact of Chronic Cord Compression on Clinical, Neuroanatomical, and Neurophysiological Outcomes

Cervical spondylotic myelopathy (CSM) is the most common cause of spinal cord impairment worldwide and is a risk factor for traumatic central cord syndrome. Despite advances in surgery, there are no effective neuroprotective treatments for CSM, which reflects a limited understanding of its pathophysiology. In order to develop therapeutic strategies, we have developed a novel rat model of chronic progressive cervical spinal cord compression that mimics CSM. A titanium-screw-based chronic compression device (CCD) was designed to achieve progressive cord compression at the C6 level. The CCD was fixed to the C2 and T2 spinous processes and a threaded screw was turned to induce compression. Sprague-Dawley rats (n=75) were divided into three groups: (1) sham (no compression, n=6), (2) mild compression (1.4 mm stenosis, n=27), and (3) severe compression (2.6 mm stenosis, n=42). Compression was evaluated using micro-computed tomography (micro-CT). The area of spared white matter, extent of cord flattening ratio, and loss of neurons were assessed. Functional deficits were characterized using sensory-evoked potential (SEP) recordings, and with neurobehavioral tests: the Basso, Beattie, and Bresnahan (BBB) locomotor rating scale, inclined plane, paw grip strength, and assessment of mechanical and thermal allodynia. Micro-CT confirmed progressive canal stenosis. The loss of intact white matter and cord flattening were significantly greater in rats with severe cord compression, and the number of neurons was reduced at the epicenter of cord compression. With chronic cord compression there was a significant decline in locomotor function, forelimb function, trunk stability/coordination, an increase in mechanical allodynia, and impaired axonal conduction. The CCD model results in chronic and precise cervical cord compression. The compression is associated with mechanical allodynia and measurable neurobehavioral, neurophysiological, and neuropathological deficits. We anticipate that the CCD model will enable the investigation of translationally-relevant therapeutic strategies for CSM.

Hipoacusia y problemas de vía aérea en niños con mucopolisacaridosis

Introduction Mucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that causes the accumulation of glycosaminoglycans in different tissues. The onset of symptoms usually occurs in early childhood, causing problems of otitis media, hearing loss and airway obstruction in the ENT area. Objective Describing the audiological findings and airway pathology found in 9 children diagnosed as having MPS. Methods A retrospective review was performed of the clinical and audiological findings, exploratory results and therapeutic ENT procedures for 9 children diagnosed with MPS in an ENT service at a tertiary paediatric public centre in the period 2007-2010. Results Subtypes found were 4 MPS type I, 2 moderate MPS type II, 1 severe MPS type II, 1 MPS type IV and 1 MPS type VI. All patients presented chronic middle ear effusions. A child developed mild bilateral sensorineural hearing loss; another case was diagnosed as mixed hearing loss. The remaining auditory pattern was moderate bilateral conductive hearing loss. Four patients showed secondary obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to Waldeyer ring hyperplasia; surgery could not be performed on one of them because of cervical spinal cord compression from mucopolysaccharide deposits. In 2 cases, there was OSAHS relapse. Conclusions Children with MPS are at increased risk for developing sensorineural hearing loss. The OSAHS syndrome appears in greater proportion than in the general child population, and recurrences may occur more frequently after surgery. Such children can also be risk patients in airway management.