Yeo Ht

Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations.

Although cerebral cavernous malformations (CCMs) are not uncommon, the concurrent finding of cavernous malformations (CMs) both in the brain and spinal cord is quite rare. Furthermore, multiple spinal cord CMs are extremely rare with only a few cases being reported thus far. Recently, we encountered a 33-year-old Korean male with both CCM and multiple spinal intramedullary CMs. The patient complained of seizure and right chest paresthesia. The lesions were located throughout the neuraxis including the cerebral hemisphere, brain stem, and cervical and thoracic spinal cords. Molecular analysis of the KRIT1 (CCM1), CCM2, and PDCD10 (CCM3) genes identified a heterozygous nonsense mutation (c.103C>T; Arg35X) in the PDCD10 gene, which was reported previously in a CCM family. The patient denied a family history, however, his daughter had an identical mutation, but was asymptomatic. Three months later, after identifying the mutation in the father and the daughter, the daughter presented with seizure. To the best of our knowledge, this is the first report of an association between a mutation in the PDCD10 gene and spinal CMs.

Anomalous Variations of the Origin and Course of Vertebral Arteries in Patients with Retroesophageal Right Subclavian Artery

We present two rare cases of anomalous vertebral artery (VA) with retroesophageal right subclavian artery. One patient had a right VA arising from the right common carotid artery (CCA), and a left VA originating from the third branch off the aorta. Both VAs ascended anteriorly to the transverse foramen of C5 to C6 vertebra and entered the transverse foramen of C4. The other patient had a right VA arising from the right CCA and entering the transverse foramen of C5. The presence of anomalous variations of the origin and course of vertebral artery might have serious implications in angiographic and surgical procedures, and it is of great importance to be aware of such a possibility.

Clinical outcome of modified cervical lateral mass screw fixation technique.

Objective The purpose of this study was 1) to analyze clinically-executed cervical lateral mass screw fixation by the Kims technique as suggested in the previous morphometric and cadaveric study and 2) to examine various complications and bicortical purchase that are important for b-one fusion. Methods A retrospective study was done on the charts, operative records, radiographs, and clinical follow up of thirty-nine patients. One hundred and seventy-eight lateral mass screws were analyzed. The spinal nerve injury, violation of the facet joint, vertebral artery injury, and the bicortical purchases were examined at each lateral mass. Results All thirty-nine patients received instrumentations with poly axial screws and rod systems, in which one hundred and seventy-eight screws in total. No vertebral artery injury or nerve root injury were observed. Sixteen facet joint violations were observed (9.0%). Bicortical purchases were achieved on one hundred and fifty-six (87.6%). Bone fusion was achieved in all patients. Conclusion The advantages of the Kims technique are that it is performed by using given anatomical structures and that the complication rate is as low as those of other known techniques. The Kims technique can be performed easily and safely without fluoroscopic assistance for the treatment of many cervical diseases.