Mermaid syndrome associated with VACTERL-H syndrome.

Mermaid syndrome or sirenomelia is an extremely rare congenital malformation with an incidence between 1.5 and 4.2 per 1,000,000 pregnancies. Association of mermaid syndrome with VACTERL-H syndrome is extremely rare, with only two cases reported so far in the literature. We present a new case of type I sirenomelia associated with VACTERL-H syndrome and review the relevant literature. A 15-year-old female patient was admitted to the Department of Pathological Pregnancy at St George University Hospital, Plovdiv with progredient abortion during her first pregnancy. She had low socioeconomic status, negative history of concomitant diseases and addictions. The patient avoided prophylactic intake of folic acid during her pregnancy. Prenatal ultrasound found a malformative fetus. Consequently, magnetic resonance imaging was performed which established the presence of hydrocephalus and defects in the lower part of the spine. These pathological findings indicated interruption of pregnancy at 20 weeks of gestation. The fetopathological examination found sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal and ureteric agenesis, bladder agenesis, tracheo-esophageal fistula, agenesis of external genitals, monkey fold of the left palm of the hand, also known as VACTERL-H syndrome.Our case demonstrates that mermaid syndrome and VACTERL-H syndrome represent different manifestations of a single pathological process that results in disorders of the blastogenesis at different stages during embryonic development.

Mucocele of the Paranasal Sinuses - Retrospective Analysis of a Series of Seven Cases.

AIM: The present study aimed at identifying the risk factors, typical clinical symptoms and applied treatment in seven cases with mucocele of the paranasal sinuses. MATERIALS AND METHODS: Seven patients suffering from mucocele of the paranasal sinuses were admitted to the Clinic of Neurosurgery and the Clinic of Ear, Nose and Throat Diseases between 2014 and 2016. There were 4 females and 3 males aged between 22 and 78 (95% CI [31.44, 70.23]). Initial symptoms, their duration, clinical presentation upon admission, localization of the mucocele, type of surgical intervention and outcome have all been studied. RESULTS: The localization of the mucocele was frontal (2 cases), fronto-ethmoidal (2 cases), ethmoidal (1 case) and spheno-ethmoidal (2 cases). Risk factors were identified in 4 cases. Endoscopic marsupialization of the mucocele was performed in 5 cases. One patient with intracranial extension of frontal mucocele was treated via right frontobasal craniotomy. One of the patients refused surgery. CONCLUSION: Endoscopic marsupialization should be considered as a method of choice in cases with mucoceles without extensive intracranial invasion. This approach offers adequate drainage, balloon dilatation of the natural sinus openings that prevents future recurrence.

Spontaneous Spondylodiscitis - Epidemiology, Clinical Features, Diagnosis and Treatment.

Spontaneous spondylodiscitis is a rare but serious infectious disease which is a combination of an inflammatory process, involving one or more adjacent vertebral bodies (spondylitis), the intervertebral discs (discitis) and finally - the neighboring neural structures. In most cases the condition is due to a hematogenous infection and can affect all regions of the spinal cord, but it is usually localized in the lumbar area. The most common clinical symptom is a pronounced, constant and increasing nocturnal paravertebral pain, while consequently different degrees of residual neurological symptoms from nerve roots and/or spinal cord may appear. The disease course is chronic and the lack of specific symptoms often prolongs the time between its debut and the diagnosis. This delay in diagnosis determines its potentially high morbidity and mortality. Treatment is conservative in cases with no residual neurological symptoms and consists of antibiotic therapy and immobilization. Surgical treatment is necessary in patients with neurological deficit, spinal instability or drug resistance.

Mucocele of the Sphenoid Sinus.

Mucocele of the paranasal sinuses is a rare disease with slow evolution. It is a benign, encapsulated and destructive formation filled with mucous fluid and tapistrated with respiratory epithelium. Of all the paranasal sinuses, the sphenoid sinus is affected in only 1-7% of the cases. We present two cases of mucocele of the sphenoid sinus involving the posterior ethmoidal cells. We consider here their clinical presentation, use of neuroimaging in the diagnosis, surgical care and postoperative results. Both patients presented with a history of persistent headache and in addition, one of them had a paresis of the right oculomotor and abducens nerves. A transnasal endoscopic sphenoidectomy was performed in both patients, in one - with an evacuation of the mucocele and marsupialization, and in the other - with a balloon dilatation of the natural foramen of the sinus. Postoperatively, a complete reversal of the symptoms was observed in both patients. Mucocele of the paranasal sinuses should be considered as a diagnosis in cases of persistent headache with a primarily retrobulbar location and eye symptoms. Computed tomography and magnetic resonance imaging can be used to successfully diagnose the disease. The transnasal endoscopic sphenoidectomy is the therapeutic method of choice which allows evacuation of the mucocele, while the marsupialization allows good drainage and prevents recurrence.

Spontaneous Direct Carotid-Cavernous Fistula in an Elderly Patient.

We describe the case of an 83-year-old woman with left-sided ophthalmoplegia. She had no family history of connective tissue disease. The computed tomography study found a dilated left cavernous sinus. The conventional cerebral panangiography confirmed the diagnosis - a direct carotid-cavernous fistula (CCF), with no evidence of ruptured aneurysm. The woman underwent endovascular treatment with coiling of the cavernous sinus in combination with application of the Onyx embolic agent in the fistula. During the first 48 hours after the embolization the local pain, exophthalmos and conjunctival injection of the left eye were significantly ameliorated. The pulsatile tinnitus on the left disappeared and the ptosis of the left eyelid partially recovered. Selective angiography is the best method for the diagnosis and classification of CCF. Currently, treatment is possible with low mortality and morbidity rates. The endovascular intervention is able to completely occlude the fistula and maintain adequate blood fl ow through the carotid artery.

Initial Experience with O-Arm Navigated Spinal Surgery - Report on Two Cases.

Image-guided spinal surgery is becoming increasingly popular because it allows surgeons to achieve minimal invasiveness and maximum precision in the performed procedures. We present our initial experience with two cases operated on using O-arm-based spinal navigation at the Clinic of Neurosurgery in St George University Hospital, Plovdiv, Bulgaria. In the first case, we performed removal of extradural spinal tumor of the sixth thoracic vertebra and O-arm-navigated pedicle screw fixation. In the second case, we performed O-arm-navigated corpectomy of the fifth cervical vertebra and anterior spinal reconstruction and fusion with titanium expandable mesh and cervical plate in connection with degenerative narrowing of the cervical spinal canal that lead to clinically manifested myelopathy. The initial experience allows us to conclude that O-arm-based image-guided spinal surgery can lead to considerably higher precision of spinal instrumented procedures. At the same time, it reduces the irradiation dose of the patient and surgical team.

Thoracic Meningioma In Combination With Severe Lumbar Spinal Stenosis Presenting With Atypical Neurological Deficit.

We report on a case of a 47-year-old female patient with a long history of low back pain irradiating bilaterally to the legs. Twenty days before admission to our clinic, she had developed progressive weakness in the legs, more pronounced on the left side. The initial neurological examination revealed signs of damage to both the cauda equina and the spinal cord. The neuroimaging studies (computed tomography, myelography and magnetic-resonance tomography) found spinal stenosis most severe at L4-L5 level, and right lateral thoracic intradural-extramedullary tumor at T9-T10 level. The patient underwent two neurosurgical procedures. The first stage included microsurgical resection of the thoracic lesion and the second stage aimed at decompressing the lumbar spinal stenosis. To avoid missing a diagnosis of thoracic lesions, it is necessary to perform a thorough neurological examination of the spinal cord motor and sensory functions. In addition, further MRI examination of upper spinal segment is needed if the neuroimaging studies of the lumbar spine fail to provide reasonable explanation for the existing neurological symptoms.

A comparative study of LAMPs and YKL-40 tissue expression in glial tumors.

INTRODUCTION: YKL-40 is a glycoprotein believed potentially to be a marker of various pathological processes. High levels of YKL-40 have been found in cancer and chronic inflammatory diseases. The function of the glycoprotein is not completely known yet. A possible involvement in angiogenesis and tumor aggressiveness is supposed. Lysosome-associated membrane glycoproteins (LAMP) 1 and 2 are highly conserved proteins with still undefined biological functions. There is evidence that they are implicated in autophagy, angiogenesis and tissue remodeling. AIM: The aim of the present study was to investigate the potential relationship between the tissue expression of YKL-40, LAMP-1 and LAMP-2 in glial tumors. MATERIAL AND METHODS: LAMPs and YKL-40 expression was determined by immunohistochemistry in 36 glial tumors. A morphometric analysis of the intensity of tissue expression was performed with the Quick-photo Micro 2.3. system. Area (µm), perimeter (µm), and expression level (%) of the three glycoproteins were calculated. RESULTS: LAMPs were found on cell membranes of glial and endothelial cells, while YKL-40 was detected in the cytoplasm of these cells. Intensive immunohistochemical reaction was present in tumor cells. LAMP-2 showed a more intensive staining compared to LAMP-1. CONCLUSION: We present the first comparative study of YKL-40 and LAMPs in astroglial tumors. The relationship between the expression of the three glycoconjugates indicates a possible participation in the processes of angiogenesis and tissue remodeling during tumor development.

Glioblastoma multiforme classified as mesenchymal subtype.

INTRODUCTION: Recently, researchers have been considering as adverse prognostic factors in primary glioblastomas not only clinical indicators but also various cellular, genetic and immunological markers. The aim of the present article was to report a case of primary glioblastoma multiforme with poor survival in a patient after surgical intervention, and to determine the unfavorable prognostic markers. CASE REPORT: We present a 71-year-old man with histologically verified glioblastoma multiforme and a postoperative survival of 48 days. The patient did not receive any radiotherapy and adjuvant therapy with temozolomide because of the short survival. Serum and transcription levels of TNF-α, CD44, YKL-40 and IL-6 were determined by molecular-biological and immunological analyses. We found very high transcription levels of the genes CD44, YKL-40 and IL-6, increased gene expression of TNF-α, and elevated serum concentrations of TNF-α, YKL-40 and IL-6 and reduced serum concentration of CD44. CONCLUSION: Molecular-biological and immunological analyses support the hypothesis that glioblastoma multiforme is presented by a heterogeneous group of glial tumors with different clinical course and prognosis. The high expression levels of TNF-α, CD44, YKL-40, and IL-6 indicate that the tumor can be categorized as mesenchymal subtype of glioblastoma multiforme, which accounts for the rapid clinical course and lethal outcome of the condition.

Myxopapillary ependymoma of filum terminale.

We report a case of 56-year-old patient suffering from myxopapillary ependymoma of filum terminale at the level of the fifth lumbar vertebra. The patient presented with progressive complaints of permanent pain in the anal and sacral region with duration of 8 months. When sneezing or attempting to do brisk movements, the pain irradiated to the posterior surface of the right thigh. Vertebral syndrome was absent. Neurological examination demonstrated no other abnormalities. Magnetic-resonance imaging showed intradural tumor of cauda equina at the level of the fifth lumbar vertebra. The present article discusses the role of MRI in the diagnosis of clinical cases presenting with atypical lumboradiculalgia. We have put an emphasis on the early diagnosis of myxopapillary ependymoma of filum terminale which has an impact on the surgical strategy and postoperative outcome.

Surgical management of metastatic tumors of the cervical spine.

OBJECTIVE: To present the results from the clinical presentation, the imaging diagnostics, surgery and postoperative status of 17 patients with cervical spine metastases, to analyse all data and make the respective conclusions and compare them with the available data in the literature. PATIENTS AND METHODS: The study analysed data obtained by patients with metastatic cervical tumours treated in St George University Hospital over a period of seven years. All patients underwent diagnostic imaging tests which included, separately or in combination, cervical x-rays, computed tomography scan and magnetic-resonance imaging. Severity of neurological damage and its pre- and postoperative state was graded according to the Frankel Scale. For staging and operating performance we used the Tomita scale and Harrington classification. RESULTS: Seven patients had only one affected vertebra, 4 patients--two vertebrae, one patient--three vertebrae, 2 patients--four vertebrae, and in the other 3 patients more than one segment was affected. Surgery was performed in 12 patients. One level anterior corpectomy was performed in 6 patients, three patients had two-level surgery, and one patient--three-level corpectomy; in the remaining 2 cases we used posterior approach in surgery. Complete corpectomy was performed in 4 patients, subtotal corpectomy was used in 6 patients and partial--in 2 patients. Anterior stabilization system ADD plus (Ulrich GmbH & Co. KG, Ulm, Germany) was implanted in 2 patients; in 8 patients anterior titanium plate and bone graft were used, and in 1 patient--posterior cervical stabilization system. CONCLUSIONS: Because of the pronounced pain syndrome and frequent neurological lesions as a result of the cervical spine metastases use of surgery is justified. The main purpose is to maximize tumor resection, achieve optimal spinal cord and nerve root decompression and stabilize the affected segment.

Neurocognitive impairments in brain tumor patients.

There is an increased scientific interest in cognitive impairments caused by brain tumors during the last decade. It has lead to the introduction and routine clinical usage of neuropsychological test batteries in brain tumor patients, thus making them an important clinical measure for the assessment of the efficacy of the different treatment regimens such as surgery, radiotherapy and chemotherapy. The effect of cognitive deficit on patients' quality of life and survival has been unequivocally proven. These are among the most common neurological symptoms associated with brain tumors. The improvement in cognitive function and delay in neurocognitive decline are acceptable endpoints in clinical trials. Cognition has been demonstrated to be an independent predictor of survival in patients with cerebral neoplasms.

Delayed posttraumatic unilateral occipital epidural hygroma in early childhood.

An extremely rare case of posttraumatic epidural hygroma in the left occipital supratentorial and infratentorial region is reported. A year and five months old child was admitted to the Clinic of Neurosurgery with sustained occipital head injury. She presented with drowsiness and vomiting due to intracranial hypertension. Initial computed tomography scan revealed left-sided fracture of the squamous part of the occipital bone without associated traumatic changes to the brain. A second spiral computed tomography scan was obtained two days later because of persisting symptoms of increased intracranial pressure. It demonstrated a newly formed left-sided epidural hygroma adjacent to the skull fracture in the left supratentorial and infratentorial occipital region. The case is discussed with emphasis on the mechanism of formation of epidural hygroma and an attempt has been made to outline the major predisposing factors leading to the development of this traumatic disease. Necessity for computed tomography follow-up is pointed out in order to diagnose delayed posttraumatic hygromas. The recommended surgical approach should include craniotomy centered at the site of the epidural hygroma and obligatory dural elevation by means of traction sutures to eliminate the posttraumatic epidural cavity.