Pycnodysostosis with Multi-Segmental Spinal Canal Stenosis due to Ossification of the Yellow Ligament

Pycnodysostosis is an autosomal recessive disorder characterized by osteosclerosis, small stature, acro-osteolysis of the distal phalanges, loss of the mandibular angle, separated cranial sutures with open fontanels, and frequent fractures. One identified cause of the disease is reduced activity of the cysteine protease cathepsin K. A 48-year-old woman with a history of frequent fractures presented with a severe gait disturbance. Radiography, computed tomography, magnetic resonance imaging, and gene analysis were performed. Physical examination revealed open fontanels, and radiographs showed increased bone density. DNA sequence analysis revealed a deletion mutation of the cathepsin K gene. We diagnosed pycnodysostosis based on these findings. The magnetic resonance and computed tomography images demonstrated multilevel spinal canal stenosis due to ossification of the yellow ligament. We performed a laminectomy, and the patient's neurological signs and symptoms improved. To our knowledge, this is the first case of pycnodysostosis with ossification of the yellow ligament.

Clinical Results And Prognostic Factors for Thoracic Myelopathy Caused by Ossification of Yellow Ligament after Surgical Treatment

STUDY DESIGN: Retrospective study. OBJECTIVES: We analyzed the clinical results of thoracic myelopathy caused by ossification of yellow ligament (OYL) and to explore prognostic factors after surgical treatment. SUMMARY OF LITERATURE REVIEW: Thoracic myelopathy due to OYL is difficult to treat; surgery is considered as treatment of choice. However, studies of the clinical results and prognostic factors are few due to its rare presentation. MATERIALS AND METHODS: Twenty six patients who had surgery for thoracic myelopathy caused by OYL were evaluated from February 2002 to April 2012. We describe the analysis of the clinical results after surgery and prognostic factors. RESULTS: Modified Japanese orthopedic association (JOA) score was recorded in all patients by 5.7+/-1.3 points (range, 2-9 points) preoperatively, 7.8+/-1.7 points (range, 4-10 points) postoperatively, and 8.4+/-2.1 points (range, 5-11 points) at final follow-up. Hirabayashi recovery rate was recorded by 60.2+/-20.2% (range, 45.5-72.0%) postoperatively, 64.5+/-17.3% (range, 50.2-75.1%) at final follow-up. The Visual Analogue Scale (VAS) score was also improved by 7.6+/-1.8 points (range, 7-10 points) preoperatively, 4.5+/-1.3 points (range, 3-6 points) postoperatively, and 3.8+/-1.6 points (range, 2-5 points) at final follow-up. Both modified JOA score and VAS score improved significantly (p<0.05). In prognostic factor analysis, OYL type on CT axial image, duration of symptom, and preoperative severity of myelopathy was significant (p<0.05). CONCLUSION: We showed the effectiveness of surgery on patients who suffer from thoracic myelopathy caused by OYL and that OYL type identified by CT axial image, duration of symptom, and preoperative severity of myelopathy were significant prognostic factors.

Cervical Myelopathy due to Ossification of Yellow Ligament in a Patient with Reiter's Syndrome / 대한척추외과학회지

Reiter's syndrome is described as an inflammation of the joints and tendon attachments at the joints, and is often accompanied by an inflammation of the eye;s conjunctiva and the mucous membranes, such as those of the mouth, urinary tract, vagina, and penis, and by a distinctive rash. Ossification of the yellow ligament associated with Reiter's syndrome has never been reported A 41-year old male patient with Reiter's syndrome was admitted to our hospital due to cervical myelopathy caused by ossification of yellow ligament. He was treated with laminectomy and fusion, from C3 to C7, by using a lateral mass screw and plate fixation. Laminectomy and fusion seems to be an appropriate treatment option for cervical myelopathy due to ossification of yellow ligament.