Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases

Remondino, Rodrigo; Tello, Carlos; Noël, Mariano A.; Wilson, Alejandra Francheri; Galaretto, Eduardo; Bersusky, Ernesto; Piantoni, Lucas

doi:10.1016/j.jspd.2018.07.005

Cited by 16 publications

(26 citation statements)

References 17 publications

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“…This is also one of the first studies to comprehend peripheral symptoms in a large transplanted MPSI patient cohort. Furthermore, specifics on spine disease have never been published for different disease types [22].…”

Section: Discussionmentioning

confidence: 99%

Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications—A Retrospective Analysis of 99 Patients

Ammer

Dohrmann

Muschol

et al. 2021

JCM

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Patients with mucopolysaccharidoses (MPS) frequently require anaesthesia for diagnostic or surgical interventions and thereby experience high morbidity. This study aimed to develop a multivariable prediction model for anaesthesia-related complications in MPS. This two-centred study was performed by retrospective chart review of children and adults with MPS undergoing anaesthesia from 2002 until 2018. We retrieved the patients’ demographics, medical history, clinical manifestations, and indication by each anaesthesia. Multivariable mixed-effects logistic regression was calculated for a clinical model based on preoperative predictors preselected by lasso regression and another model based on disease subtypes only. Of the 484 anaesthesia cases in 99 patients, 22.7% experienced at least one adverse event. The clinical model resulted in a better forecast performance than the subtype-model (AICc 460.4 vs. 467.7). The most relevant predictors were hepatosplenomegaly (OR 3.10, CI 1.54–6.26), immobility (OR 3.80, CI 0.98–14.73), and planned major surgery (OR 6.64, CI 2.25–19.55), while disease-specific therapies, i.e., haematopoietic stem cell transplantation (OR 0.45, CI 0.20–1.03), produced a protective effect. Anaesthetic complications can best be predicted by surrogates for advanced disease stages and protective therapeutic factors. Further model validation in different cohorts is needed.

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Section: Discussionmentioning

confidence: 99%

Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications—A Retrospective Analysis of 99 Patients

Ammer

Dohrmann

Muschol

et al. 2021

JCM

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“…To establish the surgical strategy for cervical myelopathy of patients with LSDs, the evaluation of upper cervical level could be critical. The main stenotic cervical level of the patients with MPS was C1 due to the hypoplasticity of the C1 lamina in our series; some types of LSDs are often accompanied by atlantoaxial instability 12,13 . When atlantoaxial instability is evident, occipito-cervical xation, rather than cervical laminoplasty, with C1 laminectomy should be indicated.…”

Section: Discussionmentioning

confidence: 51%

“…Typical spinal manifestations among LSDs are atlantoaxial instability and cervical developmental spinal canal stenosis 12,13 . Spinal disorders and its severity are different depending on disease type and activity.…”

Section: Introductionmentioning

confidence: 99%

Clinical Outcomes of Laminoplasty for Patients With Lysosomal Storage Disease Including Mucopolysaccharidosis and Mucolipidoses: a Retrospective Cohort Study

Terai

Tamai

Hoshino

et al. 2021

Preprint

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Background:Although the clinical efficacy of laminoplasty in adult cervical spondylotic myelopathy or ossification of posterior longitudinal ligament has been frequently reported, there are only a few reports of laminoplasty for patients with lysosome storage diseases (LSDs). Thus, this study aimed to report the midterm clinical and radiological outcomes of patients with LSDs after cervical laminoplasty.Methods: Six LSD patients who underwent laminoplasty with/without C1 laminectomy for cervical myelopathy were enrolled. Clinical evaluations, including the cervical Japanese Orthopedic Association (cJOA) score and visual analog scale (VAS) for upper extremity numbness and radiographic parameters, including C2-7 lordotic angle, atlanto-dens interval (ADI), and ⊿ADI, were evaluated preoperatively, at 2 years postoperatively, and at the final follow-up. Results: Five patients had mucopolysaccharidoses (type I: n=1, II: n=3, VII: n=1) and one patient had mucolipidoses type III. Mean age at surgery was 27.5 years. Mean postoperative follow-up period was 61 months. All mucopolysaccharidoses cases required C1 posterior arch resection with C2-C7 laminoplasty. No critical complications were observed postoperatively. There were no significant differences between preoperative and final follow-up in C2-7 angle (p=0.724) and ⊿ADI (p=0.592). The cJOA score and VAS for numbness significantly improved at the final follow-up (p=0.004 and p=0.007, respectively).Conclusion: The cervical myelopathy of LSD patients could be safely and effectively treated with laminoplasty with/without C1 posterior arch resection after eliminating patients with atlantoaxial instability. The atlantoaxial stability and symptom improvement could be maintained at an average of 5 years postoperatively.

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“…Nevertheless, as the two patients were unwilling to undergo urodynamic examination, further urodynamic results are not available. In a recent study, Remondino et al [9] reported 52 MPS patients with clinical manifestations of spinal lesions, such as cervical spine involvement (43 patients), thoracolumbar kyphosis (14 patients), spinal cord compression (8 patients), and stenosis of the spinal canal (7 patients); among all patients, 55% showed nerve damage. As a result, annual MRI of the whole spine is recommended in patients with MPS IVA to assess spinal disorders [10].…”

Section: Discussionmentioning

confidence: 99%

“…Other treatments are limited to palliative care and alleviating symptoms [20]. In general, progression of functional impairment is an indication of compression in the spinal cord of MPS patients; thus, it is an indication that surgery is needed, and early spinal decompression may prevent or reverse neurologic impairment [9]. Regardless, treatment to block neurogenic bladder in MPS IVA patients has never been reported.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review

Mao

Shen

et al. 2021

BMC Pediatr

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Background Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder. Up to now, reports on the clinical characteristics of MPS IVA mainly focused on patients with progressive bone dysplasia and multiple organ damage, while the effects of this disorder on neurogenic bladder have not been reported. Therefore, the aim of the present study is to report two cases of nocturnal enuresis finally diagnosed as neurogenic bladder in MPS IVA. Case presentation Both children were characterized by the presence of pectus carinatum, kyphoscoliosis, nocturnal enuresis, urinary incontinence, normal intelligence, and loss of strength in the legs, diagnosed as neurogenic bladder in association with MPS IVA through the analysis of the clinical characteristics, enzyme activity and genetic testing. In addition, the terminator codon mutation c.1567T > G (p.X523E) and a novel missense mutation c.575A > G (p.E192G) were found in the coding region of the GALNS gene of the 1st patient, while the missense mutation c.488C > A (p.P163H) was found in the coding region of the GALNS gene of the 2nd patient. Conclusions Neurogenic bladder may occur in patients with MPS IVA after spinal cord injury. It is necessary to screen for the diagnosis of MPS IVA in patients with atypical enuresis and skeletal abnormalities through the analysis of the clinical characteristics, enzyme activity and genetic testing.

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Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases

Cited by 16 publications

References 17 publications

Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications—A Retrospective Analysis of 99 Patients

Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications—A Retrospective Analysis of 99 Patients

Clinical Outcomes of Laminoplasty for Patients With Lysosomal Storage Disease Including Mucopolysaccharidosis and Mucolipidoses: a Retrospective Cohort Study

Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review

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