Ebru Guzel

Atypical clinical presentation of idiophatic thoracic spinal cord herniation.

Study Design. Case report. Objective. To report an adult female patient with idiopathic spinal cord herniation presenting with pain without symptoms of myelopathy. Summary of Background Data. Idiopathic spinal cord herniation is a rare but increasingly recognized cause of myelopathy that can be successfully diagnosed with the almost pathognomonic findings on magnetic resonance imaging. There are over 90 cases that were treated surgically reported in the literature. Methods. A 38-year-old woman presented with a 6-month history of chest pain radiating through to the back in bilateral T4 dermatome. Her neurologic examination was normal. Magnetic resonance study revealing ventral displacement and adherence of spinal cord at T4 level led to the diagnosis of idiopathic spinal cord herniation. Mild spinal cord atrophy with the dilatation of dorsal subarachnoid space was determined. Results. The patient is observed-up on conservative treatment for pain. Conclusion. Idiopathic spinal cord herniation is 1 of the causes of unexplained atypical thoracic pain with or without signs and symptoms of myelopathy. Magnetic resonance imaging is recommended to establish the diagnosis in patients, particularly age ranged from 36 to 59, whose clinical and laboratory findings are inconclusive.

Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations

BACKGROUND Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, and cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic encephalocele, have not typically been considered a component of the disease phenotype. METHODS Four patients originally presented for genetic evaluation of symptomatic structural brain malformations. Whole-genome genotyping, whole-exome sequencing, and confirmatory Sanger sequencing were performed. Using immunohistochemical analysis, we investigated the protein expression pattern of COL18A1 in the mid-fetal and adult human cerebral cortex and then analyzed the spatial and temporal changes in the expression pattern of COL18A1 during human cortical development using the Human Brain Transcriptome database. RESULTS We identified two novel homozygous deleterious frame-shift mutations in the COL18A1 gene. On further investigation of these patients and their families, we found that many exhibited certain characteristics of Knobloch syndrome, including pronounced ocular defects. Our data strongly support an important role for COL18A1 in brain development, and this report contributes to an enhanced characterization of the brain malformations that can result from deficiencies of collagen XVIII. CONCLUSIONS This case series highlights the diagnostic power and clinical utility of whole-exome sequencing technology-allowing clinicians and physician scientists to better understand the pathophysiology and presentations of rare diseases. We suggest that patients who are clinically diagnosed with Knobloch syndrome and/or found to have COL18A1 mutations via genetic screening should be investigated for potential structural brain abnormalities even in the absence of an encephalocele.

Factor X Deficiency Presenting with Bilateral Chronic Subdural Hematoma

Factor X deficiency is a rare coagulation defect that can result in several hemorrhagic manifestations including central nervous system hematomas in infants and children. In this case report, we present computed tomography (CT) and magnetic resonance (MR) imaging findings of bilateral chronic subdural hematomas due to factor X deficiency. Cranial CT and MR imaging in a hypoactive 7-month-old male infant with right hemiparesis revealed bilateral chronic subdural hematomas at different stages. Laboratory findings showed a severe factor X deficiency, with a level of 0.7%. After fresh frozen plasma replacement, the patient was operated and the large hematoma on the left side evacuated. The patient recovered uneventfully and remained asymptomatic during the 1-year follow-up.

A Spinal Dermoid Cyst with Spontaneous Rupture into the Syrinx Cavity: A Case Report

Dermoid cysts are rare benign congenital tumors comprising 1.1 % of the spinal tumors, with lumbosacral region and cauda equina being the common sites. Many cranial cases with spillage of cyst contents into the subarachnoid space have been reported. We report an extremely unusual case of symptomatic spinal dermoid cyst that ruptured into the syrinx cavity. The gold standard treatment is complete resection of both cyst wall and content in dermoid cysts. However, there is no consensus for the treatment of the syrinx cavity. Observation of similar cases would give us more information about treatment options and the progression of these lesions.

Cervical spinal meningioma mimicking intramedullary spinal tumor.

Study Design. Case report. Objective. To report a very unusual spinal meningioma, mimicking an intramedullary spinal tumor. Summary of Background Data. Spinal meningiomas, usually associated with signs and symptoms of cord or nerve root compression, are generally encountered in women aged over 40. Radiologic diagnosis is often established by their intradural extramedullary location on magnetic resonance images. Methods. A 60-year-old woman had a 6-month history of progressive weakness in her upper extremities, difficulty in walking, and cervical pain radiating through both arms. Neurologic examination revealed motor strength deficiency in all her extremities, with extensor reflexes, clonus, and bilateral hyper-reflexiveness. A sensory deficit was present all over her body. Magnetic resonance images revealed that the spinal cord appeared expanded with an ill-defined, homogeneously contrast-enhanced, lobulated, eccentric mass at the C1–C3 level. The patient was operated with a preliminary diagnosis of an intramedullary tumor. Results. At surgery, the mass was found to be extramedullary, and gross total resection was performed. Histopathological examination revealed a meningioma characterized by the presence of fibrous and meningothelial components. The patient was able to ambulate with a cane, and extremity strength and sensation improved 2 months after surgery. Conclusion. Spinal meningiomas can mimic intramedullary tumors, and should be considered in differential diagnosis of intradural tumors with atypical appearance.

Lung Adenocarcinoma Metastasis Mimicking Peripheral Nerve Sheath Tumor: A Case Report and Review of the Literature

Root metastases of solid organ carcinomas are rare entities. Because of their rare occurrence, they can be confused with nerve sheath tumors, such as schwannomas or neurofibromas, when detected by magnetic resonance imaging. In this paper, we reported a case of a 72-year-old woman with S1 root metastasis originating from lung adenocarcinoma. In addition, we reviewed the literature and presented the diagnosis and treatment stages of this pathology. Surgical resection should be the main treatment for symptomatic metastases. Gross total resection of tumors is usually not possible with preservation of neurologic functions. Nerve root decompression, subtotal resection, and adjuvant treatments seem to represent the best treatment option for these patients.

Recurrent Chest Wall Hydatid Disease with Spinal Involvement: A Case Report

The dorsal spinal column is rarely affected by hydatid disease whereas recurrence of chest wall hydatid disease associated with spinal involvement is extremely rare. Here we present a 33 year old patient living on a farm with a history of operation for hydatid disease of chest wall previously. He admitted in hospital with upper back pain, left leg pain and walking difficulty. Radiological evaluation revealed multiple lesions on the chest wall and dorsal vertebrae. Surgery was performed and anti-helmintic treatment was administered following surgery. The clinical presentation and treatment of this rare case is discussed in this article.

Giant cell tumor of the eleventh thoracic vertebra in a pediatric patient: an interesting case report and comprehensive literature review

IntroductionGiant cell tumors of the mobile spinal column are very rare tumors, especially in the pediatric age group. Although they are benign tumors, they have locally aggressive growth pattern and high risk of recurrence.Case presentationWe report a 15-year-old female patient with thoracic giant cell tumor who underwent percutaneous vertebroplasty and had cement extravasation into the spinal canal. Because of the deterioration of the patient’s neurological condition, total enbloc spondylectomy and cement excision were performed. She underwent instrumentation and fusion procedures in order to prevent spinal instability.ConclusionThe main purpose of the treatment is gross total resection of the giant cell tumor. However, adjuvant methods such as denosumab should be added to the treatment protocol in patients who are older than 2 years old and can not undergo gross total resection due to tumor size and anatomic localization.

Use of programmable versus nonprogrammable shunts in the management of normal pressure hydrocephalus: A multicenter retrospective study with cost–benefit analysis in Turkey

Abstract Ventriculoperitoneal shunt systems that are used in the treatment of normal pressure hydrocephalus are often associated with drainage problems. Adjustable shunt systems can prevent or treat these problems, but they may be expensive. The aim of our study is to compare the complications and total cost of several shunt systems. Patients with normal pressure hydrocephalus who underwent ventriculoperitoneal shunting between 2011 and 2016 were included in the study. The study involves patient consent and the informed consent was given. Complications and the average cost per person were compared between patients with adjustable and nonadjustable shunts. Shunt prices, surgical complications, and revision costs were taken into account to calculate the average cost. Of the 110 patients who were evaluated, 80 had a nonadjustable shunt and 30 had an adjustable shunt. In the group with adjustable shunts, the rates of subdural effusion and hematoma were 19.73% and 3.29%, respectively. In the group with nonadjustable shunts, these rates were 22.75% and 13.75%, respectively. One patient in the adjustable group underwent surgery for subdural hematoma, while 8 patients in the nonadjustable group underwent the same surgery. Ten patients required surgical intervention for subdural effusion and existing shunt systems in these patients were replaced by an adjustable shunt system. When these additional costs were factored into the analysis, the difference in cost between the shunt systems was reduced from 600 United States dollars (USD) to 111 USD. When the complications and additional costs that arise during surgical treatment of normal pressure hydrocephalus were considered, the price difference between adjustable and nonadjustable shunt systems was estimated to be much lower.

Melanotic schwannoma of the L5 root

Melanotic neoplasm of the central nervous system is rare and the majority of them are metastatic. Melanotic schwannoma (MS) is an unusual variant of nerve sheath neoplasm accounting for less than 1% of primary nerve sheath tumors. A case involving a 36-year-old man with MS at the L5 root is presented. Surgery, differential diagnosis, radiology, histology, and treatment of this rare entity are discussed.