Ocular findings in Jansen metaphyseal chondrodysplasia.

Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by germline heterozygous PTHR1 variants resulting in constitutive activation of parathyroid hormone type 1 receptor. A description of ocular manifestations of the disease is lacking. Six patients with JMC underwent a detailed ophthalmic evaluation, spectral-domain optical coherence tomography (OCT), visual field testing, and craniofacial CT scans. Five of 6 patients had good visual acuity. All patients had widely spaced eyes; 5/6 had downslanted palpebral fissures. One patient had proptosis, and another had bilateral ptosis. Two patients had incomplete closure of the eyelids (lagophthalmos), one had a history of progressive right facial nerve palsy with profuse epiphora, while the second had advanced optic nerve atrophy with corresponding retinal nerve fiber layer (RNFL) thinning on OCT and significant bilateral optic canal narrowing on CT scan. Additionally, this patient also had central visual field defects and abnormal color vision. A third patient had normal visual acuity, subtle temporal pallor of the optic nerve head, normal average RNFL, but decreased temporal RNFL and retinal ganglion cell layer analysis (GCA) on OCT. GCA was decreased in 4/6 patients indicating a subclinical optic nerve atrophic process. None of the patients had glaucoma or high myopia. These data represent the first comprehensive report of ophthalmic findings in JMC. Patients with JMC have significant eye findings associated with optic canal narrowing due to extensive skull base dysplastic bone overgrowth that appear to be more prevalent and pronounced with age. Progressive optic neuropathy from optic canal narrowing may be a feature of JMC, and OCT GCA can serve as a useful biomarker for progression in the setting of optic canal narrowing. We suggest that patients with JMC should undergo regular ophthalmic examination including color vision, OCT, visual field testing, orbital, and craniofacial imaging.

Prognostic effect of increased postoperative MRI T2WI high signal intensity in degenerative cervical myelopathy.

BACKGROUND CONTEXT: High cord signals (HCS) are common in patients undergoing surgery for degenerative cervical myelopathy (DCM). Few studies have investigated the prognostic effects of postoperative HCS changes. PURPOSE: To investigate whether different changes in the postoperative magnetic resonance imaging (MRI) T2-weighted images (T2WIs) signal intensity ratio (SIR) is related to patient outcomes, predictors of unsatisfactory recovery, and the factors associated with changes in postoperative SIR. STUDY DESIGN: A retrospective chart review at a single institution. PATIENT SAMPLE: The study population included all consecutive patients who showed HCS in preoperative MRI T2WIs and underwent double-door laminoplasty for DCM from December 2017 to December 2020. OUTCOME MEASURES: Patient self-reported measures included the Japanese Orthopedic Association (JOA) score, 36-Item Short Form Survey (SF-36) physical component score, and SF-36 mental component score. Imaging measures included SIR, length of HCS, and canal narrowing ratio (CNR). METHODS: We reviewed patient records and analyzed the statistical associations of MRI T2WI measures with the JOA score, SF-36 physical, and mental component scores. RESULTS: Fifty-three patients were categorized into three groups based on the postoperative HCS changes, identified from MRI T2WI before and after surgery: reduced (Group A, N=26); unchanged (Group B, N=12); and increased (Group C, N=15). The neurological recovery rates 12 months after surgery were 67.72%±17.45% in Group A, 51.53%±16.00% in Group B, and 13.35%±21.35% in Group C (p<.001). Significant differences across the three groups were found in symptom duration, postoperative SIR and length of HCS, pre- and postoperative CNR, recovery rate, JOA, SF-36 scores, with patients in Group C having the worst outcomes. Longer DCM symptom duration, greater preoperative CNR, and increased postoperative HCS were prognostic factors for a recovery rate<50%. Preoperative CNR, with an optimal threshold of 57.303%, was an independent risk factor for increased postoperative HCS. CONCLUSIONS: Less than one-third of DCM patients with preoperative HCS exhibited an increase in HCS after double-door laminoplasty and reported worse outcomes at the 12-month follow-up when compared to patients with decreased or unchanged postoperative HCS.

Associations between Clinical Symptoms and Degree of Ossification in Patients with Cervical Ossification of the Posterior Longitudinal Ligament: A Prospective Multi-Institutional Cross-Sectional Study.

This study aimed to clarify whether ossification predisposition influences clinical symptoms including pain, restriction of activities of daily living, and quality of life in patients with cervical ossification of the posterior longitudinal ligament (OPLL). Cervical ossification predisposition potentially causes neurologic dysfunction, but the relationship between clinical symptoms and radiologic severity of OPLL has not yet been investigated. Data were prospectively collected from 16 institutions across Japan. We enrolled 239 patients with cervical OPLL. The primary outcomes were patient-reported outcomes, including visual analog scale (VAS) pain scores and other questionnaires. Whole-spine computed tomography images were obtained, and correlations were investigated between clinical symptoms and radiologic findings, including the distribution of OPLL, the sum of the levels where OPLL was present (OP-index), and the canal narrowing ratio (CNR) grade. The cervical OP-index was Grade 1 in 113 patients, Grade 2 in 90, and Grade 3 in 36. No significant correlations were found between radiologic outcomes and VAS pain scores. The cervical OP-index was associated with lower extremity function, social dysfunction, and locomotive function. The CNR grade was not correlated with clinical symptoms, but Grade 4 was associated with lower extremity dysfunction. Thickness and extension of ossified lesions may be associated with lower extremity dysfunction in cervical OPLL.

Facet Arthrodesis with the FFX Device: One-Year Results from a Prospective Multicenter Study.

BACKGROUND: Facet osteosynthesis can be performed to treat facet syndrome (FS) and reduce spinal instability following laminectomy in patients with lumbar spinal stenosis (LSS). The present study evaluated clinical and radiological outcomes following facet osteosynthesis with the FFX device. METHODS: Patients with FS or LSS were prospectively enrolled in a single-arm, multicenter study. The device was placed at affected levels with or without concomitant posterior lumbar interbody fusion (PLIF) procedures. The visual analog scale (VAS) for back and leg pain and Oswestry Disability Index (ODI) were evaluated preoperatively and postoperatively. Computed tomography scans to assess fusion and migration were performed 1 year following surgery. RESULTS: Fifty-three patients (26 men/27 women) with a mean age of 65.0 ± 9.6 years (range: 37-83 years) were enrolled. A total of 205 FFX devices were implanted with 15 patients undergoing concurrent PLIF procedures. There were no intraoperative or postoperative surgical complication reported, and no patient required revision surgery. Mean VAS leg and back pain scores significantly improved from 5.57 to 2.09 (P < .001) and 5.74 to 3.13 (P < .001), respectively, between the preoperative and 1 year follow-up assessments. Mean ODI scores also significantly improved from 44.7% to 24.0% (P < .001) during the same time period. Facet fusion occurred with 86.3% of device placements after 12 months. There was 1 (0.5%) asymptomatic device migration. Eight devices (3.9%) were considered misplaced. CONCLUSIONS: The use of the FFX device is associated with a significant reduction in both pain and disability following surgery with a high facet joint fusion rate. LEVEL OF EVIDENCE: 4. CLINICAL RELEVANCE: This is the first study reporting clinical experience using the FFX device to facilitate facet osteosynthesis. The ability of the device to relieve pain, reduce disability, and enhance lumbar facet fusion with a low rate of device misplacement and migration was demonstrated.

Bilateral Cemented Custom-Made Total Hip Arthroplasty in Paget's Disease with Femoral Cortical Thickening and Canal Narrowing.

In this report, we present a case of a 57-year-old man complaining of pain in both his hips. Clinically, the patient reported lameness and reduction in the range of motion of the hips. Radiographic imaging showed a very narrow medullary femoral canal, confirmed by a computed tomography scan. In consideration of the narrowness of the femoral canal and cortex thickening, and due to the rarity of the clinical case, we opted to use a custom-made prosthesis. We performed total hip arthroplasty, initially on the right side. One year later, we repeated the procedure on the left side. One year after the last surgery, the patient reported well-being and continuous improvement in walking, with no complications. This case report highlights the features and the critical issues related to this kind of surgery in patients affected by Paget's disease of the bone and the importance of custom-made implants in challenging cases.