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1.
Turk J Med Sci ; 53(5): 1254-1261, 2023.
Article in English | MEDLINE | ID: mdl-38813020

ABSTRACT

Background/aim: To present the incidence of recurrent lumbar disc herniation (RLDH) and to identify radiological and patient-related risk factors that lead to recurrence after lumbar disc herniation (LDH) treatment with microdiscectomy. Materials and methods: Between January 2013 and December 2021, 1214 patients who had undergone microdiscectomy for LDH were included in this retrospective study. Patients were divided into two groups, the recurrent group and the non-recurrent group, and their demographic, clinical and radiologic characteristics were recorded. The association between the variables and RLDH was assessed by univariate and multivariable logistic regression analyses. Results: Mean ages were similar in the recurrent (51.48 ± 13.63) and non-recurrent(50.38 ± 14.53) groups (p=0.232). Males represented 59.6% of the recurrent group and 49.8% of the non-recurrent group (p=0.002). Multivariable logistic regression revealed that being a male (p=0.009), diabetes mellitus (p=0.038), smoking (p<0.001), grade 4&5 disc degeneration (p<0.001), and having protruded (p=0.002), extruded LDH (p<0.001), paracentral (p=0.008) and foraminal LDH (p=0.008) were independently associated with recurrence. Conclusion: To reduce RLDH frequency and need for revision surgery, modifiable risk factors should be minimized before and after the initial surgery. Also, in patients with unmodifiable risk factors, patients should be clearly informed about the risk for recurrence and possible alternative treatment methods should be considered.


Subject(s)
Diskectomy , Intervertebral Disc Displacement , Lumbar Vertebrae , Recurrence , Humans , Intervertebral Disc Displacement/surgery , Intervertebral Disc Displacement/epidemiology , Male , Retrospective Studies , Diskectomy/adverse effects , Female , Risk Factors , Middle Aged , Lumbar Vertebrae/surgery , Adult , Microsurgery/adverse effects , Microsurgery/statistics & numerical data , Aged
2.
Neurol India ; 69(5): 1427-1429, 2021.
Article in English | MEDLINE | ID: mdl-34747832

ABSTRACT

Behçet's disease is a multisystem inflammatory disease that manifests with oral-genital ulcers, skin lesions, arthritis, and ophthalmologic and neurovascular findings. Neurological involvement of Behçet's disease is called neuro-Behçet's disease, and it is a difficult entity to diagnose because of insufficient symptoms. We present a 26-year-old male patient with complaints of headache, dizziness, and drop foot in the right lower extremity. He underwent gross total tumor resection with the preliminary diagnosis of low-grade glioma, according to the preoperative magnetic resonance imaging. Histopathological examination and further investigation revealed an interesting neuro-Behçet's disease case because of the localization and clinical occurrence of the lesion.


Subject(s)
Behcet Syndrome , Glioma , Adult , Behcet Syndrome/complications , Behcet Syndrome/diagnosis , Glioma/diagnostic imaging , Headache , Humans , Magnetic Resonance Imaging , Male
3.
Childs Nerv Syst ; 37(10): 3241-3244, 2021 10.
Article in English | MEDLINE | ID: mdl-33523244

ABSTRACT

INTRODUCTION: Pituitary abscess is a rare lesion of the pituitary gland that can cause morbidity and mortality in the absence of appropriate treatment. They are classified as primary and secondary pituitary abscesses. Primary pituitary abscesses occur in patients with no previous pituitary pathology. Secondary pituitary abscesses are detected in patients with existing pituitary pathologies. CASE PRESENTATION: We report a 16-year-old female patient with primary pituitary abscess who was misdiagnosed initially and treated as meningitis. Following the visual disturbances, pituitary abscess was diagnosed, and she underwent abscess drainage via endoscopic endonasal transsphenoidal surgery and antibiotic treatment. CONCLUSION: Primary pituitary abscess can be clinically confused with other pathologies affecting the central nervous system. In order to avoid permanent sequelae in such patients, it should be kept in mind by physicians in similar cases. Satisfying results are obtained in these patients after appropriate treatment and dramatic improvement is achieved.


Subject(s)
Brain Abscess , Meningitis , Pituitary Diseases , Pituitary Neoplasms , Adolescent , Brain Abscess/diagnostic imaging , Brain Abscess/surgery , Child , Endoscopy , Female , Humans , Pituitary Diseases/diagnosis , Pituitary Gland/diagnostic imaging
4.
Indian J Cancer ; 58(1): 91-95, 2021.
Article in English | MEDLINE | ID: mdl-33402574

ABSTRACT

BACKGROUND: Treatment options for recurrent glioblastoma (GBM) have limited efficacy. Although reoperation is useful for both the confirmation of the diagnosis of recurring disease and the relief of the symptoms, its effect on survival is unknown. The aim of this study was to evaulate the impact of second surgery in recurrent GBM. METHODS: Patients with GBM followed in our center between January 2015 and April 2018 were analyzed retrospectively based on the treatment options. RESULTS: 25 patients diagnosed with recurrent GBM were analyzed. Ten patients (40%) were treated with chemotherapy following reoperation, and 15 patients (60%) were treated with only chemotherapy. No benefits of reoperation were observed in the univariate analysis. CONCLUSION: The second surgery in recurrent GBM has limited effect in clinical course.


Subject(s)
Bevacizumab/therapeutic use , Glioblastoma/drug therapy , Irinotecan/therapeutic use , Reoperation/methods , Adolescent , Adult , Aged , Aged, 80 and over , Bevacizumab/pharmacology , Female , Glioblastoma/mortality , Glioblastoma/pathology , Humans , Irinotecan/pharmacology , Male , Middle Aged , Survival Analysis , Young Adult
5.
J Pediatr Neurosci ; 16(4): 338-340, 2021.
Article in English | MEDLINE | ID: mdl-36531780

ABSTRACT

Pineal glioblastomas (GBMs) are extremely rare tumors. Herein we will present a pediatric patient with GBM located in pineal region who was admitted with the symptoms of increased intracranial pressure and treated with surgical resection and radiotherapy. Introduction: Pineal region tumors are extremely rare accounting for less than 1% of all brain tumors. The most common type of pineal region tumors is germ cell tumor, followed by pineal parenchymal tumors, gliomas, atypical tumors, and the others. Case Report: A 5-year-old girl was admitted with complaints of headache, dizziness, imbalance in walking, and impaired vision for 1 month. Her neurological examination revealed a tendency to sleep, anisocoric pupillae, mesh eye pupil, dilated lateral gaze paralysis, and left hemiparasia (4/5 muscle strength). In magnetic resonance imaging, a mass was observed in the pineal region that infiltrates the right thalamus and right superior peduncle, isointense and hyperintense in T1 sections, hyperintense in T2 sections, having centrally contrasted areas in post-contrast sections. Due to the presence of evident hydrocephalus, a ventricular shunt was inserted and then through supracerebellar to infratentorial approach the lesion was removed subtotally. The histopathological diagnosis was GBM. GBMs in the pineal region are extremely rare tumors carrying poor prognosis. The patients are generally presented with the signs and symptoms of increased intracranial pressure. GBMs should be kept in mind in differential diagnosis of tumors in the pineal region.

6.
Childs Nerv Syst ; 37(1): 229-233, 2021 01.
Article in English | MEDLINE | ID: mdl-32666153

ABSTRACT

PURPOSE: Of the many suggested techniques, we used dorsal intercostal perforator artery flap (DIPAF) for the closure of myelomeningocele defects. This study compared the outcomes of primary closure and DIPAF in the closure of myelomeningoceles. METHODS: Data of 24 patients that underwent myelomeningocele surgery at a single institution between November 2015 and September 2019 were retrospectively reviewed. RESULTS: The primary closure group had 13 patients (54.17%) and the DIPAF group had 11 (45.83%). The mean age was 7.91 ± 13.27 days (1-60 days). Twelve patients were female and 12 were male. In 22 patients, the myelomeningocele sacs were in the lumbosacral region, while in 2, they were in the thoracolumbar region. The mean defect sizes were 14.20 ± 4.62 cm2 and 18.44 ± 3.49 cm2 in the primary closure and DIPAF groups, respectively. In each group, four patients had a kyphotic deformity. In the primary closure group, three patients had wound necrosis, two had wound dehiscence, and four had cerebrospinal fluid (CSF) leakage. In the DIPAF group, one patient had wound necrosis and one had CSF leakage. Significantly fewer complications related to the operation area were observed in the DIPAF group (p < 0.05). Increased defect size, kyphotic deformity, and presence of hydrocephalus were found to be risk factors for complications related to the operation area. CONCLUSION: This surgical treatment protects neural tissue, prevent CSF leakage, and reduce central nervous system infection rates in myelomeningocele patients. Closure technique with the fasciocutaneous skin flap has more satisfying results than primary closure.


Subject(s)
Meningomyelocele , Perforator Flap , Plastic Surgery Procedures , Adolescent , Adult , Arteries , Child , Female , Humans , Male , Meningomyelocele/surgery , Retrospective Studies , Treatment Outcome , Young Adult
7.
Pediatr Neurosurg ; 55(5): 289-294, 2020.
Article in English | MEDLINE | ID: mdl-33171459

ABSTRACT

INTRODUCTION: Thymic carcinoma metastases of the spinal column are very rare, especially in pediatric patients. To our knowledge, this is the first such pediatric case in the literature. CASE PRESENTATION: We report the case of a 14-year-old male patient with T12 and L1 metastases of thymic carcinoma. He had history of thymectomy and intrathoracic tumor resection 7 months previously. The patient's neurological condition deteriorated; therefore, tumor resection and decompression of the spinal canal were performed. He underwent instrumentation and fusion procedures to prevent spinal instability. CONCLUSION: The main purpose of the treatment is gross total resection of the thymic carcinoma. However, adjuvant methods such as radiotherapy and chemotherapy should be added to the treatment protocol in patients who have higher stage diseases or those in whom total tumor resection cannot be achieved.


Subject(s)
Spinal Neoplasms/secondary , Spinal Neoplasms/surgery , Thoracic Vertebrae/surgery , Thymoma/surgery , Thymus Neoplasms/surgery , Adolescent , Humans , Male , Spinal Neoplasms/diagnostic imaging , Thoracic Vertebrae/diagnostic imaging , Thymoma/diagnostic imaging , Thymus Neoplasms/diagnostic imaging
8.
Pediatr Neurosurg ; 55(2): 101-105, 2020.
Article in English | MEDLINE | ID: mdl-32683366

ABSTRACT

BACKGROUND/AIMS: We aimed to evaluate the course of urinary problems in children with spinal dysraphism. METHODS: This multicenter study evaluated data on pediatric patients diagnosed with spinal dysraphism between 2010 and 2019. The neurological and urological conditions of the patients were examined retrospectively. This study focused on the course of urological problems. Urodynamic examinations including urodynamic bladder capacity, bladder pressure in maximal capacity, compliance, detrusor hyperactivity, uroflowmetry, and residual urine amount were evaluated. All patients underwent urinary system ultrasonography, urinalysis, hemogram and biochemical tests, and urodynamics at admission and follow-ups. RESULTS: A total 62 patients (35 males, 27 females) with a mean age of 7.50 ± 4.01 years and age range of 1-16 years were included in the study. Ultrasonographic evaluation revealed normal results in 32 patients and abnormal findings, including moderate-to-severe calyceal dilatation, parenchymal thinning, and residual urine, in 30 patients. At the time of diagnosis, culture-positive urinary tract infection was detected in 22 patients, and leukocyte and/or bacterial positivity was detected in 18 patients. The differences between bladder capacity, bladder pressure at maximal capacity, compliance, and detrusor hyperactivity at first admission and post-treatment were statistically significant (p < 0.05). Vesicoureteral reflux was also detected in 25 patients. Thirty patients underwent oral anticholinergic and antibiotic prophylaxis, while 17 additionally underwent clean intermittent catheterization. Five patients underwent intravesical Botox injection, clean intermittent catheterization, and medical treatment, and 10 patients underwent augmentation cystoplasty. CONCLUSION: The prevalence of urinary tract problems is high in patients with spinal dysraphism for whom early diagnosis is very important for both urologic and neurosurgical considerations. Early follow-up of urodynamics should be performed, and treatment should be carried out if necessary. Regular follow-up and appropriate treatment have positive effects on the quality of life of these patients and may also prevent the occurrence of severe renal dysfunction.


Subject(s)
Spinal Dysraphism/diagnostic imaging , Spinal Dysraphism/epidemiology , Urinary Bladder Diseases/diagnostic imaging , Urinary Bladder Diseases/epidemiology , Adolescent , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Male , Time Factors
9.
Pediatr Neurosurg ; 54(1): 28-35, 2019.
Article in English | MEDLINE | ID: mdl-30673675

ABSTRACT

OBJECTIVE: To evaluate pediatric patients who were operated with the diagnosis of depressed skull fracture. METHODS: The records of pediatric patients who presented with traumatic head injury to multicenter neurosurgery clinics between 2002 and 2018 and who were operated with a diagnosis of depressed skull fracture were retrospectively reviewed. All of the patients underwent primary bone fragment replacement operation, and the patients' own bone flaps were used to repair depressed skull fractures in all of them. RESULTS: A total of 78 patients were included in the study. Of the study group, 20 patients presented with mild head injury, 37 had moderate head injury, and 21 had severe head injury. Dural injury was present in 67 patients (86%) and the dura was intact in 11 patients (14%). After surgery, 63 patients (81%) had good outcome, 8 patients (10%) had moderate disability, and 5 patients (6.5%) had severe disability. Two patients with multiple accompanying cranial pathologies died and the mortality rate was 2.5%. Infection was detected in only 2 of the 78 patients who were treated within the first 72 h after trauma. One of them had meningitis and the other skin infection. Both patients were treated with appropriate antibiotherapy. None of the patients in the study group had an infection involving the bone, such as osteomyelitis, or the tissues under the bone, such as subdural-epidu-ral empyema or abscess. None of the patients required reoperation and removal of the bone. CONCLUSION: In the present study, as the pathologies accompanying the depressed skull fractures of the patients increased, Glasgow Coma Scale scores at arrival and Glasgow Outcome Scale scores at discharge decreased. Regardless of whether the depressed fracture is simple or compound, primary bone fragment replacement with appropriate decontamination of the fractured bone and operation area via single-session intervention gives good results. It is important to perform the surgery as soon as possible to reduce the risk of contamination. Primary bone fragment replacement seems to be an appropriate treatment option for depressed skull fractures.


Subject(s)
Bone Transplantation/methods , Skull Fracture, Depressed/diagnostic imaging , Skull Fracture, Depressed/surgery , Adolescent , Bone Transplantation/trends , Child , Child, Preschool , Craniocerebral Trauma/diagnostic imaging , Craniocerebral Trauma/surgery , Female , Follow-Up Studies , Humans , Infant , Male , Retrospective Studies , Treatment Outcome
10.
Childs Nerv Syst ; 35(3): 553-557, 2019 03.
Article in English | MEDLINE | ID: mdl-30259086

ABSTRACT

INTRODUCTION: Giant 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 PRESENTATION: We 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. CONCLUSION: The 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.


Subject(s)
Bone Cements/adverse effects , Extravasation of Diagnostic and Therapeutic Materials/complications , Giant Cell Tumor of Bone/surgery , Spinal Neoplasms/surgery , Vertebroplasty/adverse effects , Adolescent , Decompression, Surgical/methods , Extravasation of Diagnostic and Therapeutic Materials/surgery , Female , Giant Cell Tumor of Bone/pathology , Humans , Spinal Fusion/methods , Spinal Neoplasms/pathology , Thoracic Vertebrae
11.
Pediatr Neurosurg ; 53(6): 427-431, 2018.
Article in English | MEDLINE | ID: mdl-30408795

ABSTRACT

Tethered cord syndrome (TCS), a neurological disorder characterized by the lower settlement of the conus medullaris, is a congenital spinal disease which is caused by split cord syndrome, meningomyelocele, and spinal tumors. Cranial dermoid tumor (CDT) is a congenital benign tumor which is generally located on the midline of the cranium. Even though TCS is highly associated with spinal dermoid tumor, the relationship of CDT and TCS is unusual. We pre-sent a case with an unusual symptom of CDT, motion-dependent pain, and an uncommon togetherness with TCS.


Subject(s)
Dermoid Cyst/pathology , Dermoid Cyst/surgery , Neural Tube Defects/diagnostic imaging , Neural Tube Defects/surgery , Spinal Cord Neoplasms/surgery , Astrocytoma/pathology , Child, Preschool , Dermoid Cyst/congenital , Dermoid Cyst/diagnostic imaging , Headache/etiology , Humans , Low Back Pain/etiology , Magnetic Resonance Imaging , Male , Neural Tube Defects/pathology , Skull , Spinal Cord , Spinal Cord Neoplasms/diagnostic imaging , Spinal Cord Neoplasms/pathology
12.
World Neurosurg ; 120: 490-494, 2018 Dec.
Article in English | MEDLINE | ID: mdl-30266705

ABSTRACT

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.


Subject(s)
Adenocarcinoma of Lung/secondary , Lung Neoplasms/pathology , Nerve Sheath Neoplasms/diagnosis , Peripheral Nervous System Neoplasms/secondary , Spinal Nerve Roots/diagnostic imaging , Adenocarcinoma of Lung/diagnostic imaging , Adenocarcinoma of Lung/surgery , Aged , Diagnosis, Differential , Female , Foraminotomy , Humans , Magnetic Resonance Imaging , Neoplasm Metastasis , Peripheral Nervous System Neoplasms/diagnostic imaging , Peripheral Nervous System Neoplasms/surgery , Sacrum
13.
Medicine (Baltimore) ; 96(39): e8185, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28953678

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.


Subject(s)
Hydrocephalus, Normal Pressure/surgery , Postoperative Complications , Prosthesis Fitting/methods , Ventriculoperitoneal Shunt , Adult , Aged , Costs and Cost Analysis , Equipment Failure Analysis , Female , Humans , Hydrocephalus, Normal Pressure/epidemiology , Male , Middle Aged , Outcome and Process Assessment, Health Care , Postoperative Complications/diagnosis , Postoperative Complications/economics , Postoperative Complications/etiology , Postoperative Complications/prevention & control , Reoperation/economics , Reoperation/methods , Reoperation/statistics & numerical data , Turkey/epidemiology , Ventriculoperitoneal Shunt/adverse effects , Ventriculoperitoneal Shunt/classification , Ventriculoperitoneal Shunt/economics , Ventriculoperitoneal Shunt/methods
14.
Asian Pac J Cancer Prev ; 17(8): 3737-9, 2016.
Article in English | MEDLINE | ID: mdl-27644609

ABSTRACT

BACKGROUND: The purpose of this study is to evaluate if there is a relation between platelet:lymphocyte ratio (PLR) and neutrophil lymphocyte ratio (NLR) values and tumour histology and spread in bladder cancer cases. MATERIALS AND METHODS: Bladder cancer patients undergoing TUR-M operation, with histopathologically verified diagnosis, followed-up and treated at the Private Medical Park Gaziantep Hospital between 2010 and 2015, were included in the study. NLR and PLR values were calculated using complete blood count data obtained at the first presentation. RESULTS: A total of 99 patients were included in the study, 7 (7.1%) women and 92 men (92.9%). When NLR was used as the indicator of systemic inflammatory response (SIR), it was determined that 52 (52.5%) of the patients were SIR negative and 47 (47.5%) SIR positive. No significant relation could be detected between NLR and tumour grade and muscle invasion (p=0.948, p=0.480). When PLR was used as SIR indicator, it was determined that 71 (71.7%) of the patients were found as negative and 28 (28.3%) as positive. No significant relation could be detected between PLR and tumour grade and muscle invasion (p=0.651, p=0.494). CONCLUSIONS: In our study we did not detected a relation between tumour histological behavior and PLR and NLR in bladder cancer. However, NLR and PLR are easily calculated, accessible, inexpensive and simple-to-use laboratory data from whole blood counts.


Subject(s)
Inflammation/pathology , Muscles/pathology , Urinary Bladder Neoplasms/pathology , Adult , Aged , Aged, 80 and over , Blood Cell Count/methods , Blood Platelets/pathology , Female , Humans , Leukocyte Count/methods , Lymphocyte Count/methods , Lymphocytes/pathology , Male , Middle Aged , Neutrophils/pathology , Platelet Count/methods , Prognosis , Retrospective Studies
15.
Neuroradiol J ; 29(3): 219-21, 2016 Jun.
Article in English | MEDLINE | ID: mdl-26969197

ABSTRACT

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.


Subject(s)
Neurilemmoma/pathology , Spinal Cord Neoplasms/pathology , Spinal Nerve Roots/pathology , Adult , Humans , Laminectomy , Lumbar Vertebrae , Magnetic Resonance Imaging , Male , Neurilemmoma/diagnostic imaging , Neurilemmoma/surgery , Spinal Cord Neoplasms/diagnostic imaging , Spinal Cord Neoplasms/surgery , Spinal Nerve Roots/diagnostic imaging , Spinal Nerve Roots/surgery , Treatment Outcome
16.
Pediatr Neurol ; 51(6): 806-813.e8, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25456301

ABSTRACT

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.


Subject(s)
Cerebral Cortex/metabolism , Collagen Type XVIII/genetics , Encephalocele/genetics , Encephalocele/pathology , Exome/genetics , Retinal Detachment/congenital , Adolescent , Adult , Cerebral Cortex/embryology , Cerebral Cortex/growth & development , Consanguinity , Female , Fetus , Humans , Male , Mutation , Retinal Degeneration , Retinal Detachment/genetics , Retinal Detachment/pathology , Young Adult
17.
Turk Neurosurg ; 24(2): 256-8, 2014.
Article in English | MEDLINE | ID: mdl-24831371

ABSTRACT

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.


Subject(s)
Dermoid Cyst/pathology , Dermoid Cyst/surgery , Rupture, Spontaneous/pathology , Spinal Neoplasms/pathology , Spinal Neoplasms/surgery , Subarachnoid Space/pathology , Adult , Dermoid Cyst/diagnosis , Humans , Magnetic Resonance Imaging/methods , Male , Spinal Neoplasms/diagnosis , Treatment Outcome
18.
Pediatr Neurosurg ; 46(1): 54-7, 2010.
Article in English | MEDLINE | ID: mdl-20516741

ABSTRACT

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.


Subject(s)
Craniotomy , Factor X Deficiency/complications , Hematoma, Subdural, Chronic , Severity of Illness Index , Hematoma, Subdural, Chronic/diagnosis , Hematoma, Subdural, Chronic/etiology , Hematoma, Subdural, Chronic/surgery , Humans , Infant , Magnetic Resonance Imaging , Male , Tomography, X-Ray Computed
19.
Swiss Med Wkly ; 140(23-24): 335-40, 2010 Jun 12.
Article in English | MEDLINE | ID: mdl-20349366

ABSTRACT

UNLABELLED: QUESATIONS UNDER STUDY / PRINCIPLES: This study was designed to compare CT and MR appearances of chronic subdural haematomas as well as CT- and MR-guided measurements of haematoma thicknesses. METHODS: CT and MR images of 48 chronic subdural haematomas of 34 patients were reviewed retrospectively. The thickness measurements and imaging characteristics of haematomas were compared. RESULTS: Levelling was observed in 25% of haematomas, and most of them (60%) had intrahaematomal membranes. All membranes could be delineated by MR imaging, whereas only 27% were defined by CT. Mixed density (52%) and T1 hyperintensity (59%) were commonly observed in membraned haematomas, but the difference was not statistically significant. Haematomas were measured significantly thicker on MR images. All patients had been treated with burr-hole cranio-tomy and irrigation. CONCLUSIONS: MR imaging is more sensitive than CT in determining the size and internal structures of chronic subdural haematomas.


Subject(s)
Hematoma, Subdural, Chronic/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Female , Hematoma, Subdural, Chronic/diagnostic imaging , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Tomography, X-Ray Computed , Young Adult
20.
Indian J Otolaryngol Head Neck Surg ; 62(2): 186-8, 2010 Jun.
Article in English | MEDLINE | ID: mdl-23120711

ABSTRACT

Petrous apex effusions can present with aural fullness, hearing loss and dizziness. Although they can be followed-up when asymptomatic, clinical management of symptomatic patients is controversial. In this study, we present clinical and radiological findings of a 24-year-old patient with bilateral petrous apex effusion. She had been complaining of bilateral aural fullness and dizziness for 2 years. Radiological examinations revealed bilateral petrous apex effusion. After medical treatment, her symptoms gradually disappeared. In all previous published studies, unilateral petrous apex effusions were reported. To our best knowledge, this is the first patient with trapped fluid in bilateral petrous apex.

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