Articular Syndrome Characteristics in Children with Mucopolysaccharidosis Type I

Background. Mucopolysaccharidosis type I is disease from the group of lysosomal storage disease developing due to mutations in the IDUA gene. It leads to the accumulation of glycosaminoglycans (GAGs) in organs and tissues. Joints damage in this disease is systemic and progressive.Objective. The aim of the study. Nowadays, relevant issue is to investigate the effects of various types of pathogenetic therapy on the state of the osteoarticular system in patients with severe and mild phenotypes of MPS I to prevent further progression of joint pathology.Methods. The study included 46 patients diagnosed with “mucopolysaccharidosis type I”. 35 children had severe phenotype (Hurler syndrome) and 11 — with mild phenotypes (Hurler-Scheie and Scheie syndromes). The onset age of clinical manifestations in osteoarticular system, the state of large and small joints, and the presence of cervical stenosis according to the therapy were evaluated in these patients.Results. The osteoarticular system pathology can be usually revealed in all patients with MPS I, in both mild and severe phenotypes. The contractures of shoulder, ulnar, wrist, and small hand joints have been revealed in most patients with Hurler syndrome, regardless of the administered therapy. Hip joints pathology was observed in children who was administered with: enzyme replacement therapy (ERT) — in 46.7% of cases, hematopoietic stem cell transplantation (HSCT) in combination with ERT — in 34.4% of cases. Patients with Hurler syndrome administered with HSCT in combination with ERT had cervical stenosis statistically significantly more rarely (p = 0.018) compared to patients treated with ERT only. Patients with Hurler syndrome who were on ERT had statistically significantly lower growth rates than patients after HSCT in combination with ERT. Lesions in ulnar, wrist, knee and small hand joints were the most common in children with mild phenotypes (in 90% of cases).Conclusion. Combined therapy (HSCT and ERT) in patients with Hurler syndrome reduces severe manifestations in osteoarticular system.

Severe altered mentation due to cervicothoracic intrathecal pump after correction of cervical stenosis: a case report

BackgroundCerebral spinal fluid (CSF) dynamics are complex and changes in spinal anatomy may influence the rostrocaudal movement of intrathecal medications. We present the first reported case demonstrating that acute cervical spinal stenosis may impede the distribution of adjacent intrathecal medications, and that correction of such stenosis and the resulting changes in CSF flow may necessitate significant adjustments in the intrathecal infusates.Case presentationWe present a case of a 60-year-old male patient with a cervicothoracic intrathecal pump (ITP) infusing morphine, bupivacaine, and baclofen for chronic neck pain. The alert and oriented patient had a recent fall resulting in an acute severe cervical stenosis and cord compression which required urgent surgical decompression. Postoperatively, after the cervical decompression, the patient had significant altered mental status requiring a naloxone infusion. Multiple attempts to reduce the naloxone infusion were initially not successful due to worsened somnolence. The previously tolerated ITP medications were continuously reduced over the next 14 days, allowing concomitant decrease and eventual cessation of the naloxone infusion while maintaining patient mental status. The only opioids the patient received during this period were from the ITP.ConclusionsThis case presents clinical evidence that severe spinal stenosis may impede the rostral CSF distribution of intrathecal medications. Intrathecal medications previously tolerated by patients prior to decompression may need to be significantly reduced in the postoperative period.

Musculoskeletal anomalies in children with Mucopolysaccaridoses

Introduction The accumulation of glycosaminoglycan (GAGs) in the tissues in Mucopolysaccharidoses (MPS) can lead to skeletal anomalies (DYSOSTOSIS MULTIPLEX) and to soft tissue impairments (neural or medullar compression, joint stiffness, tenosynovitis). Here is a review of orthopedic issues frequently encountered in patients with MPS. Material and methods Surgery may be justified at different age and according to the type of MPS. Different surgical approaches and their indications are exposed in the article. Results The article exposes indications and techniques for orthopedic issues in MPS children: cervical stenosis, cervical instability, kyphosis, hip dysplasia and hip dislocation, genu valgum. Conclusion Various musculoskeletal anomalies can be found in patients with mucopolysaccharidoses. Neurological impairments are frequently seen due to cervical stenosis or instability and should be early detected with regular MRI of the cervical spine. Well-codified management should lead to favorable functional results and maintain functional and walking abilities.

Administration of oxytocin antagonist at the same time as using a Foley catheter with cotton swab before embryo transfer for cervical stenosis

Background Embryo transfer without difficulty in a patient with cervical stenosis can be a great challenge for in vitro fertilization (IVF). We report a successful pregnancy following a frozen thawed embryo transfer after administration of an oxytocin antagonist at the same time as using a Foley catheter with cotton swab in a patient with refractory cervical stenosis. Case presentation A 40-year-old woman undergoing IVF. The patient’s previous embryo transfers were difficult. For every transfer, uterine manipulation was needed, force was required, and dilatation was necessary. A Foley catheter with a cotton swab was inserted into the cervical canal, atosiban was administered at the same time, and the Foley catheter was removed immediately before embryo transfer. A smooth transfer was performed without bleeding, force, uterine manipulation, or cervical dilator. The patient became pregnant and delivered by cesarean section at term. Conclusion This method is effective in performing atraumatic embryo transfer in patients with cervical stenosis.

Bilateral osteoplastic decompression laminoplasty with simultaneous foraminotomy to treat multilevel cervical stenosis

Objective. To analyze surgical technique and possibilities of using bilateral laminoplasty technique with simultaneous foraminotomy for extended stenosis of the cervical spine.Material and Methods. The analysis included results of surgical treatment of 26 patients (18 males and 8 females, mean age 60.2 ± 1.3 years) operated on by the method of bilateral laminoplasty with simultaneous foraminotomy from January 2016 to April 2020. Pre- and postoperative clinical condition of patients was assessed, including using VAS, JOA and Nurick scales. An objective assessment of stenosis degree (linear dimensions, areas, volume of the stenotic spinal canal) was performed using standard measuring tools of the RadiAnt DICOM Viewer software. To assess the statistical significance of the obtained results, nonparametric Wilcoxon-T and Mann – Whitney-U tests were used. Differences were considered significant at p < 0.05.Results. Upon admission to the hospital, all patients had specific neurological symptoms with varying degree of pain, myelopathic and radicular symptoms. According to neurovisualisation, the average number of involved in the process levels (stenotic) was 3.2 ± 0.1, (the average length of stenosis was 5.1 ± 0.2 cm). In the postoperative period, all patients showed positive dynamics in the form of a decrease in the severity of neurological disorders and pain (from 7.2 ± 0.1 to 5.07 ± 0.1 according to VAS, p < 0.001). The manifestations of myelopathy decreased according to Nurick scale from 2.08 ± 0.71 to 1.84 ± 0.10 points (p < 0.05). According to MRI data, the average area of the dural sac objectively increased from 1.25 ± 0.30 cm2 to 2.26 ± 0.27 cm2 (p < 0.001), and the volume of spinal canal in the area of stenosis increased from 7.2 ± 0.2 cm3 to 13.4 ± 0.1 cm3 (p < 0.001). Patients were mobilized on the 2nd day after surgery. The duration of inpatient treatment ranged from 4 to 17 days (on average, 7.1 ± 0.4 days). Intraoperative complications were not observed in the presented series. Mild postoperative complications were detected only in two out of 26 operated patients.Conclusion. Bilateral laminoplasty with simultaneous foraminotomy using titanium miniplates and osteoinductive material has a number of advantages and can be the surgery of choice in the treatment of patients with extended cervical stenosis complicated by myelopathy and radicular pain syndrome.