Burak Kazanci

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype

BackgroundKlippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported.ResultsWe identified a family with the KFS phenotype in which their parents have a consanguineous marriage. Radiological examinations revealed that they carry fusion defects and numerical abnormalities in the cervical spine, scoliosis, malformations of the cranial base, and Sprengel’s deformity. We applied whole genome linkage and whole-exome sequencing analysis to identify the chromosomal locus and gene mutated in this family. Whole genome linkage analysis revealed a significant linkage to chromosome 17q12-q33 with a LOD score of 4.2. Exome sequencing identified the G > A p.Q84X mutation in the MEOX1 gene, which is segregated based on pedigree status. Homozygous MEOX1 mutations have reportedly caused a similar phenotype in knockout mice.ConclusionsHere, we report a truncating mutation in the MEOX1 gene in a KFS family with an autosomal recessive trait. Together with another recently reported study and the knockout mouse model, our results suggest that mutations in MEOX1 cause a recessive KFS phenotype in humans.

Collapsed L4 Vertebral Body Caused by Brucellosis

Brucellosis is caused by gram-negative, aerobic, non-motile, facultative, intracellular coccobacilli belonging to the genus Brucella. A 50-year-old man working as an employee was admitted to neurosurgery clinic with severe low back, radicular right leg pain and hypoesthesia in right L4-5 dermatomes for 2 months. Brucella tube agglutination (Wright) test was positive in serum sample of the patient with a titer of 1/640. Brucella melitensis was isolated from blood culture. X-ray and MRI of the lomber spine showed massive collapse of L4 vertebral body. Neural tissue was decompressed and then posterior L3-5 short segment transpedicular screw fixation and stabilization was performed. Brucella melitensis was isolated from microbiologic culture of pathologic specimen. Antibiotic therapy was given as doxycycline 200 mg/day and rifampicin 600 mg/day for 6 months. Brucellosis is a systemic zoonotic infection and still an important public health problem in many geographical parts of the world. Vertebral body collapse caused by brucellosis occurs very rarely but represents a neurosurgical emergency because of its potential for causing rapidly progressive spinal cord compression and permanent paralysis. Neurosurgeons, emergency department personnel as well as infectious disease specialists should always keep a high index of suspicion and include brucellosis in the differential diagnosis of vertebral body collapse.

Bilateral Thoracic Ganglion Cyst : A Rare Case Report

Ganglion cysts usually arise from the tissues around the facet joints. It is usually associated with degenerative cahanges in facet joints. Bilateral thoracic ganglion cysts are very rare and there is no previous case that located in bilateral intervertebral foramen compressing the L1 nerve root associated with severe radiculopathy. We report a 53 years old woman who presented with bilateral groin pain and severe numbness. Magnetic resonance imaging revealed bilateral cystic mass in the intervertebral foramen between 12th thoracal and 1st lumbar vertebrae. The cystic lesions were removed after bilateral exposure of Th12-L1 foramens. The result of hystopathology confirmed the diagnosis as ganglion cyst. The ganglion cyst may compromise lumbar dorsal ganglion when it located in the intervertebral foramen. The surgeon should keep this rare entity in their mind for differential diagnosis.

Hemangioblastoma of the filum terminale associated with von Hippel-Lindau disease: a case report.

We report a 41-year-old man who presented with low back pain, lower extremity paresthesia, urinary retention and constipation. Magnetic resonance imaging showed a vascular intradural-extramedullary lesion at the second lumbar vertebral level. His medical history revealed that he had undergone surgery for a cerebellar hemangioblastoma 5 years ago. The patient underwent a spinal operation and a vascular tumor was removed from filum terminale. Pathologic examination of the tumor revealed a hemangioblastoma. Hemangioblastomas may occur sporadically or in association with von Hippel-Lindau disease. In the second case, they are often multiple and accompanied by cerebellar and brainstem lesions. The hemangioblastomas reported in the conus medullaris or in the extramedullary compartment adjacent to the conus medullaris are rare, tumors of the cauda equina are uncommon, and lesions of the filum terminale are extremely rare. We report a patient with von Hippel-Lindau disease having filum terminale hemangioblastoma and discuss the diagnosis, pathogenesis and treatment of hemangioblastoma.

Unilateral hyperplasia of lamina and spinous process of C6 vertebra: case report

We report a 20-year-old male patient who was admitted to our emergency clinic after a traffic accident and who suffered from neck pain. Radiographic examination of the cervical spine showed hypertrophy of the left lamina and hypertrophy and elongation of the left spinous process of the sixth cervical vertebra (C6). A computed tomography scan revealed the associated schisis of the spinous process at the same level. Magnetic resonance imaging scan demonstrated no abnormality of the neural elements. The patient underwent a surgical operation due to persistent neck pain and the local aesthetic abnormality.

Diagnosis and treatment of ossified cephalhematoma.

Abstract Ossified cephalhematoma is a rare clinical entity. Even though cephalhematoma is frequently encountered, ossified cephalhematoma occurs only sporadically. We report a 13-week-old boy who was admitted to neurosurgery clinic with deformity of the skull. A plain skull radiograph showed radiolucent areas in the right parietal region. CT scan of the head showed thickened right parietal bone and a low-density lesion between bony layers. 3D CT of the skull showed bony protrusion of the right parietal bone. A cosmetic surgical procedure was performed for the patient, and biopsy of the bony lesion confirmed ossified cephalhematoma. We discuss diagnosis, pathogenesis, and treatment of ossified cephalhematoma.

Severe hypertension and tachycardia during transforaminal endoscopic discectomy – Is indigocarmine to blame?

Endoscopic transforaminal discectomy is a minimally invasive technique used for the surgical treatment of herniated discs. Indigocarmine is a dye which is widely used to identify the ureteral orifice in urologic procedures. Hemodynamic effects such as hypotension and anaphylaxis in addition to hypertension, bradycardia and atrioventricular block have been reported in intravenous application of indigocarmine. The aim of this case report is to prepare anesthesiologists for such cases and make them consider invasive blood pressure monitorization. Both patients had radicular pain radiating to the leg and scheduled to undergo transforaminal endoscopic discectomy. Intraoperative vital signs were within normal limits, however severe hypertension and tachyarrhythmia developed following the injection. Hemodynamics in both patients returned to normal following lidocaine and nitroglycerine injection.

To What Extent Topical Application of Cova™ and Tisseel® Cause Spinal Peridural Fibrosis? Comparison with Adcon® Gel: An Experimental Study in Rat Model.

AIM Leptomeningeal adhesions and fibrosis in the spinal peridural space are the most common causes of post-laminectomy syndrome. Fibrin sealant agents and membrane barriers are commonly used for hemostasis and sealing purposes in spinal surgery. Peridural fibrosis may be a risk of the usage of these topical agents. In this study, we aimed to compare the effects of Cova ™, Tisseel® and Adcon ® Gel on the development of spinal peridural fibrosis in the experimental rat model. MATERIAL AND METHODS Thirty-two Sprague Dawley female rats were randomly divided into 4 groups. Groups were constituted as group 1; Cova™ group (laminectomy+Cova™), group 2; Tisseel® group (laminectomy+Tisseel®), group 3; Adcon®Gel group (laminectomy + Adcon®Gel), group 4; control group (laminectomy only). Six weeks after laminectomy, spinal columns were removed en bloc between L1 and L4 vertebrae. Peridural fibrosis was evaluated histologically and the results were compared statistically. RESULTS Statistically significant reduction of peridural fibrosis was achieved in groups 1, 2, and 3 when compared with the control group (p 0.05). CONCLUSION Fibrin sealant agent Tisseel® and membrane barrier Cova™ do not enhance peridural fibrosis following laminectomy. Cova™ and Tisseel® may be appropriate for hemostasis and leakage prevention during the spinal surgery and it is safe to leave these materials on the operation surface.AIM Leptomeningeal adhesions and fibrosis in the spinal peridural space are the most common causes of post-laminectomy syndrome. Fibrin sealant agents and membrane barriers are commonly used for hemostasis and sealing purposes in spinal surgery. Peridural fibrosis may be a risk of the usage of these topical agents. In this study, we aimed to compare the effects of Cova ™, Tisseel® and Adcon ® Gel on the development of spinal peridural fibrosis in the experimental rat model. MATERIAL AND METHODS Thirty-two Sprague Dawley female rats were randomly divided into 4 groups. Groups were constituted as group 1; Cova™ group (laminectomy+Cova™), group 2; Tisseel® group (laminectomy+Tisseel®), group 3; Adcon®Gel group (laminectomy + Adcon®Gel), group 4; control group (laminectomy only). Six weeks after laminectomy, spinal columns were removed en bloc between L1 and L4 vertebrae. Peridural fibrosis was evaluated histologically and the results were compared statistically. RESULTS Statistically significant reduction of peridural fibrosis was achieved in groups 1, 2, and 3 when compared with the control group (p < 0.05). Our data revealed a statistically significant difference between group 1 and group 3 (p < 0.05). When we compared with group 2 and 3, the fibrosis grades were not different between these two groups (p > 0.05). CONCLUSION Fibrin sealant agent Tisseel® and membrane barrier Cova™ do not enhance peridural fibrosis following laminectomy. Cova™ and Tisseel® may be appropriate for hemostasis and leakage prevention during the spinal surgery and it is safe to leave these materials on the operation surface.

Neuroprotective Effects of Pregabalin Against Spinal Cord Ischemia-Reperfusion Injury in Rats.

AIM To evaluate the effect of pregabalin pre-treatment on spinal cord ischemia-reperfusion (I/R) injury and compare with methylprednisolone (MP). MATERIAL AND METHODS Thirty-two rats were randomly divided into four groups as follow: Group 1 (sham)(n=8), group 2 (ischemia only)(n=8), group 3 (30 mg/kg pregabalin)(n=8), and group 4 (30 mg/kg methylprednisolone)(n=8). Laparotomy was performed without aortic clamp in the sham group. All animals were sacrificed 24 hours after surgery. The spinal cord tissue samples were harvested and caspase-3 activity, tumor necrosis factor-alpha (TNF-α) and Interleukin-1 Beta (IL-1β) levels, catalase (CAT) activity, glutathione peroxidase (GPx) activity, superoxide dismutase (SOD) levels malondialdehyde (MDA) levels and nitric oxide (NO) levels were analyzed to investigate the effects of different excitatory and inflammatory pathways in mechanism of I/R injury. Ultrastructural and histopathological examinations were carried out. Neurological recovery was measured by Basso, Beattie, Bresnahan (BBB) test and Inclined Plane Test. RESULTS Decresead caspase-3 activity and decreased inflammatory markers like TNF-α, IL-1β, and decresaed excitotatory pathways like CAT, GPx, MDA, NO and SOD were observed in both pregabalin pre-treatment and MP treatment groups. Pregabalin pre-treatment produced better ultrastructural results compared to MP treatment, as with histopathological examination. Pregabalin group showed better recovery compared to MP treament group according to BBB scoring system. CONCLUSION Pregabalin pre-treatmet and MP treatment both has neuroprotective effect on I/R injury by decreasing caspase dependant apoptosis, and inflammatory and oxidative stress markers. In addition, pregabalin pre-treatment had better clinical effects compared to MP treatment.

Non-invasive detection and monitoring of experimental hydrocephalus with distortion product otoacoustic emissions

OBJECTIVE We aimed to find out the effects of short term and long term hydrocephalus and intracranial ventricular volume changes on cochlear functions by using distortion product otoacoustic emission (DPOAE) in experimental hydrocephalus rat models for the first time in literature. METHODS This study was performed with 48 healthy, adult (8 weeks old), Sprague-Dawley rats which weighed between 200 and 240g. Six groups were formed in this study: short term control, short term sham, short term hydrocephalus, long term control, long term sham and long term hydrocephalus groups. Each group contained eight rats. Short term period was 4 weeks and long term period was 8 weeks after the study started. At the end of these periods, DPOAE measurements were performed and then rats were sacrificed to determine ventricular volumes. RESULTS DPOAE values at all frequencies were significantly decreased in the short term hydrocephalus group when compared to the short term control and short term sham groups. DPOAE values at all frequencies were significantly decreased in the long term hydrocephalus group when compared to the long term control and long term sham groups. Besides, long term sham group which had higher ventricular volumes than long term control group also had lower DPOAE measurements. Significant associations were present between DPOAE measurements and ventricular volumes in hydrocephalus models. CONCLUSION The functional disturbances in cochlear functions due to hydrocephalus have been demonstrated with DPOAE measurements in this study. DPOAE measurements may be thought as an easily applicable non-invasive method in detection and follow-up of patients with hydrocephalus. Our findings should be supported with clinical studies in humans.