White matter abnormalities in 15 subjects with SPG76.

BACKGROUND AND OBJECTIVES: Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders characterized by progressive pyramidal tract involvement. SPG76 is a recently identified form of HSP, caused by biallelic calpain-1 (CAPN1) variants. The most frequently described MRI abnormality in SPG76 is mild cerebellar atrophy and non-specific white matter abnormalities were reported in only one case. Following the identification of prominent white matter abnormalities in a subject with CAPN1 variants, which delayed the diagnosis, we aimed to verify the presence of MRI patterns of white matter involvement specific to this HSP. METHODS: We performed a retrospective radiological qualitative analysis of 15 subjects with SPG76 (4 previously unreported) initially screened for white matter involvement. Moreover, we performed quantitative analyses in our proband with available longitudinal studies. RESULTS: We observed bilateral, periventricular white matter involvement in 12 subjects (80%), associated with multifocal subcortical abnormalities in 5 of them (33.3%). Three subjects (20%) presented only multifocal subcortical involvement. Longitudinal quantitative analyses of our proband revealed increase in multifocal white matter lesion count and increased area of periventricular white matter involvement over time. DISCUSSION: SPG76 should be added to the list of HSPs with associated white matter abnormalities. We identified periventricular white matter involvement in subjects with SPG76, variably associated with multifocal subcortical white matter abnormalities. These findings, in the presence of progressive spastic paraparesis, can mislead the diagnostic process towards an acquired white matter disorder.

Frequency of Nerve Root Sleeve Cysts in Autosomal Dominant Polycystic Kidney Disease.

BACKGROUND: There is sporadic data about the occurrence of spinal meningeal cysts in patients with autosomal dominant polycystic kidney disease (ADPKD). We suggest that there is a relationship with the frequency and size of spinal meningeal cysts and headache, intracranial aneurysms, and cerebrospinal fluid leakage in patients with ADPKD. AIM: To investigate the relationship with spinal meningeal cyst, cerebrospinal fluid leakage, and headache in patients with ADPKD. STUDY DESIGN: Cross-sectional study. METHODS: We enrolled 50 patients with ADPKD and 37 healthy volunteers. This cross-sectional study included patients with ADPKD and matched healthy volunteers. Magnetic resonance imaging myelography was performed using the 3D-T2 HASTE technique in an MRI scanner. We questioned our subjects regarding presence of headache and evaluated headache severity using a visual analog scale. The relationship between the number and size of spinal meningeal cysts with headache, intracranial aneurysms, and liver cysts was also investigated. RESULTS: Spinal meningeal cysts were more numerous and larger in patients than in controls (14.8±11.6 vs. 6.4±4.6 cysts respectively, p<0.001, 68.3±49.3 vs. 25.4±20.1 mm, p<0.001, respectively). Spinal cyst number and size were similar in APDKD patients with or without intracranial aneurysms. Headache score was correlated with the size and number of spinal meningeal cysts. This was valid only in patients with ADPKD. CONCLUSION: Abnormality involving the vessel wall in ADPKD may explain the increased number of spinal meningeal cysts in ADPKD. Moreover, leakage of cerebrospinal fluid secondary to spinal meningeal cyst may be responsible for recurrent severe headache by causing spontaneous intracranial hypotension in these patients.

Aneurysmal Bone Cyst of Sphenoid Bone and Clivus Misdiagnosed as Chordoma: A Case Report.

Aneurysmal bone cysts (ABCs) are benign and rapidly expanding bone destructive lesions of any bone. They are commonly localized in the metaphysis of long bones, whereas skull base ABCs are rare. We report a case of a 21-year-old man who had been misdiagnosed as chordoma and undergone surgery. However, histopathological examination revealed it to be an ABC.

Primary Psammomatous Melanotic Schwannoma of the Spine.

Schwannoma is an easily identifiable and frequently diagnosed lesion of the spinal column. However, if the schwannoma contains a melanin component, the diagnosis is challenging. Our purpose in this case report is to discuss the imaging and histopathologic findings of a rarely seen psammomatous type of melanotic schwannoma diagnosed in a 31-year-old woman.

The prevalence of pineal cyst in patients with cerebral palsy.

PURPOSE: Pineal cysts are common incidental findings during magnetic resonance imaging (MRI) examinations. The etiology of pineal cyst development is still unclear. We aimed to determine whether there is an association between periventricular leukomalacia and pineal cyst prevalence. METHODS: Clinical and MRI data of 201 patients with periventricular leukomalacia (110 female, 91 male; mean age, 6 years; range, 2-18 years) and 687 control patients (355 female, 332 male; mean age, 6 years¸ range, 2-18 years) who did not have any evidence of periventricular leukomalacia were independently evaluated by two radiologists for presence or absence of pineal cyst. RESULTS: Pineal cysts were detected in 32.3% of the study group (65/201) and 8.4% of the control group (58/687) (P < 0.001). Patients with periventricular leukomalacia were more likely to have a pineal cyst. In terms of pineal cyst detection on MRI, interobserver reliability was high between the two radiologists. CONCLUSION: The prevalence of pineal cysts is higher in patients with periventricular leukomalacia. We suggest that an ischemic process may have a role in the etiopathogenesis of pineal cyst development.

Primary diffuse leptomeningeal gliomatosis mimicking tuberculous meningitis.

Primary diffuse leptomeningeal gliomatosis is a disease with an aggressive course that can result in death. To date, 82 cases have been reported. Here, the case of a 3-year-old male patient presenting with strabismus, headache, and restlessness is reported. Physical examination revealed paralysis of the left abducens nerve, neck stiffness, and bilateral papilledema. Tuberculous meningitis was tentatively diagnosed, and antituberculosis treatment was initiated when cranial imaging revealed contrast enhancement around the basal cistern. Craniocervical magnetic resonance imaging (MRI) was performed when there was no response to treatment, and it revealed diffuse leptomeningeal contrast enhancement around the basilar cistern, in the supratentorial and infratentorial compartments, and in the spinal region. Primary diffuse leptomeningeal gliomatosis was diagnosed by a meningeal biopsy.

Cavernous hemangioma of the cavernous sinus misdiagnosed as a meningioma: a case report and MR imaging findings.

Cavernous hemangioma (CH) is a benign vascular malformation. Intracranial CH is generally localized as an intracranial-intraaxial and responsible for 5-13% of all intracranial vascular malformations. Intracranial-extraaxial CHs are rare rather than intracranial-intraaxial CHs. Clinical findings, imaging characteristics, and surgical approach of extraaxial CHs are rather different than intraaxial CHs. Diagnosing cavernous sinus CH preoperatively is very important, but its radiological differential diagnosis is quite difficult. In this study, we present magnetic resonance imaging findings of a 48-year-old male who was considered preoperatively to have meningioma but was diagnosed with cavernous sinus CH during surgery by pathological examination.

Total agenesis of superior sagittal sinus and falx cerebri in a patient who has a subacute subdural hematoma crossing midline: case report.

BACKGROUND AND IMPORTANCE: Anatomic variations of the superior sagittal sinus (SSS) and falx cerebri (FC) are uncommon in that agenesis of these structures is extremely rare. We report an extremely rare anatomic variation, total agenesis of the SSS and FC, and briefly discuss it from the anatomical, embryological, radiological, and clinical perspectives. CLINICAL PRESENTATION: A 49-year-old woman presented with long-standing headache, gait disturbance, and nausea. Imaging studies showed a bilateral subdural hematoma crossing the midline, dilated venous structures, and perineural cysts, but SSS and FC. Following right-sided hemiparesis and consciousness disturbances, the subdural hematoma was evacuated from a left-sided parietal burr hole because of thick hematoma in this side. After the surgical evacuation, the hemiparesis and consciousness disturbances were regressed; however, she still had severe headache. On account of ongoing headaches and related imaging findings, it was thought that she had possible spontaneous intracranial hypotension. She was treated with autologous epidural blood patch and recovered well. CONCLUSION: Agenesis of the SSS and FC are extremely rare variations. Agenesis of the SSS results in development of alternative venous pathways and may lead to misdiagnosis as dural arteriovenous fistulas. Agenesis of FC may cause diagnostic confusion, because subdural pathologies such as hematomas can cross the midline in rare occasions.

Lung parenchymal changes in patients with ankylosing spondylitis.

AIM: To assess lung parenchymal changes in ankylosing spondylitis (AS) using high resolution computed tomography (HRCT). METHODS: We included 78 AS patients whose average age was 33.87 (18-56) years with a ratio of 53 males to 25 females who were followed up for 3.88 (1-22) years on average. Pneumonia and tuberculosis were excluded. In a detailed examination of lung HRCT findings, we investigated the presence of parenchymal micronodules, parenchymal bands, subpleural bands, interlobular and intralobular septal thickening, irregularity of interfaces, ground-glass opacity, consolidation, mosaic pattern, bronchial wall thickening, bronchial dilatation, tracheal dilatation, pleural thickening, emphysema, thoracic cage asymmetry, honeycomb appearance, structural distortion, apical fibrosis and other additional findings. RESULTS: In detailed HRCT evaluations, lung parenchymal changes were found in 46 (59%) of all patients. We found parenchymal bands in 21 (27%) cases, interlobular septal thickening in 9 (12%), emphysema in 9 (12%), apical fibrosis in 8 (10%), ground-glass opacities in 7 (9%), parenchymal micronodules in 5 (6%), irregularity in interfaces in 3 (4%), bronchial dilatation in 3 (4%), mosaic pattern in 2 (3%), pleural thickening in 2 (3%), consolidation in 1 (1%), bronchial wall thickening in 1 (1%) and a subpleural band in 1 (1%) case. Furthermore, we detected subsegmental atelectasis in 2 patients and a cavitary lesion in 1 patient. CONCLUSION: Our study had the highest number of AS cases of all previous studies in evaluating lung parenchymal changes. The rate of lung parenchymal changes was slightly lower than that reported in recent literature.

Assessment of CSF flow dynamics using PC-MRI in spontaneous intracranial hypotension.

AIM: Spontaneous intracranial hypotension (SIH) is caused by spontaneous cerebrospinal fluid (CSF) leaks and is known to cause orthostatic headaches. Phase-contrast magnetic resonance imaging (PC-MRI) is a non-invasive technique that can be used to quantify variation in CSF flow. The aim of this study was to assess CSF flow dynamics using PC-MRI in SIH. MATERIALS AND METHODS: Twenty-five patients with a definitive diagnosis of SIH and 25 healthy subjects were evaluated with PC-MRI. Magnetic resonance (MR) images were acquired using a 1.5-T unit with an 8-channel head coil. Differences between SIH patients and control subjects were assessed statistically using Wilcoxon's rank sum test, Spearman's rho test, or Pearson's chi-square test, as appropriate. RESULTS: CSF flow volumes toward the third ventricle, CSF flow volumes toward the fourth ventricle, the absolute stroke volume, the peak systolic velocity, and the peak diastolic velocity in SIH patients were significantly smaller than those in control subjects (P < .0001). On the other hand, the net CSF flow volume (P = .9227) and the net CSF flow direction (P = .2472) for SIH patients and control subjects were not significantly different. CONCLUSIONS: The results obtained by CSF flow analysis were directly related to values of CSF opening pressure, determined by lumbar puncture, and clinical findings, such as headache scores. Thus, CSF flow analysis with PC-MRI, which has a short performance time and is non-invasive, may contribute to assessment of SIH patients.

Direct venous spinal reabsorption of cerebrospinal fluid: a new concept with serial magnetic resonance cisternography in rabbits.

OBJECT: For nearly 100 years it has been believed that the main reabsorption of CSF occurs in arachnoid projections into the superior sagittal sinus, but a significant number of experiments and cases conflict with this hypothesis. According to recently published studies, CSF is permanently produced and absorbed in the whole CSF system. Clusters of arachnoidal villi, which are speculated to have a role in the reabsorption of CSF, have recently been revealed in the dorsal root of the spinal nerves. Huge absorptive surface areas of microvessels have been suggested to serve a putative role in reabsorption. The authors' aim was to observe direct venous connections between the subarachnoid space and the perispinal veins. METHODS: Eleven adult (6 months old) New Zealand white male rabbits weighing approximately 3.0 kg each were used in this experiment. After obtaining precontrast MR cisternography images, subarachnoid access was gained percutaneously via a cisternal approach by using a 20-gauge intravenous indwelling cannula. One rabbit died as a result of brainstem trauma during percutaneous cannulation before contrast administration, but contrast agent was still injected to see the possible MR imaging results of spinal CSF reabsorption after death. Magnetic resonance imaging was performed at 15, 60, 120, and 180 minutes after the administration of contrast agent. After intramuscular injections of anesthetic, 2 rabbits died 120 and 150 minutes after contrast injection, but the MR imaging study at 180 minutes after contrast injection was still performed. RESULTS: Direct connections between the subarachnoid space and the perispinal veins were observed in all rabbits during serial MR cisternography. The enhancement power was not affected by the amount of injected contrast agent or by cervical or lumbar penetration but was increased at higher contrast concentrations or upon seizure (physical activity). CONCLUSIONS: Extracranial reabsorption of CSF has been finally proved with direct radiological confirmation of spinal venous reabsorption of CSF using serial MR cisternography. The authors believe that this study can help to develop a more accurate model of CSF dynamics, which will allow understanding of many CSF-related diseases, as well as the development of new strategies for treatment.

A case of primary Sjögren's syndrome presenting primarily with central nervous system vasculitic involvement.

Sjögren's syndrome is primarily a chronic systemic autoimmune disease that affects exocrine organs. Neurologic symptoms frequently present as peripheral neuropathy due to small vessel vasculitis. Type and prevalence of central nervous system involvement are still controversial. In this report, we present a 35-year-old woman with primary Sjögren's syndrome with central nervous system vasculitic involvement.

Primary intracranial abscess localized in the basal ganglia: a case report.

Brain abscesses are serious infections that cause neurological problems and generally require antibiotic treatment and surgical drainage. Hematogenous brain abscesses are generally located in the region fed by the middle cerebral artery, but are occasionally found in deep tissues, such as the basal ganglia and thalamus.

Magnetic resonance imaging of rheumatoid meningitis: a case report and literature review.

Rheumatoid meningitis is a rare and serious complication of rheumatoid arthritis (RA) with high mortality rate. Clinical importance of the disease is high because diagnosis is difficult, and the disease is treatable if diagnosed successfully. We present the clinical and cranial magnetic resonance imaging findings of 62-year-old female patient with RA who has been followed up for 4 years.

Diffusion-weighted imaging findings in brain death.

INTRODUCTION: The purpose of the present study was to determine the role of diffusion-weighted imaging (DWI) and to investigate the use of DWI in the diagnosis of brain death (BD). METHODS: We prospectively evaluated 22 patients diagnosed with clinical BD (9 women, 13 men; mean age, 39.63 ± 15.1 years; age range, 9-66 years). All clinical criteria for BD were present in all 22 patients before magnetic resonance imaging, including a positive apnea test. For all cases, DW images, T2-weighted images, and fluid-attenuated inversion recovery were obtained. Thirteen distinct neuroanatomical structures were selected for analysis in all the cases. For each region of interest, the mean, standard deviation, and range of the average apparent diffusion coefficient (ADCav) values were obtained. RESULTS: For BD patients, ADC values in all neuroanatomical structures were significantly lower than those for control subjects. We determined how ADC values in all structures were related to the diagnostic condition as well as the appropriate threshold ADC values to classify a subject as BD or control. The sensitivity, specificity, positive and negative predictive values, and correct classification rate of ADC cutoff values to distinguish BD from control groups were 100%. CONCLUSIONS: DWI might be used as a noninvasive confirmatory test for the diagnosis of BD in the future.

CT-guided percutaneous translaminar approach for blood patching: case report and technical note.

In this article the authors describe a novel technique for performing epidural blood patch (EBP) by percutaneous CT-guided translaminar approach in challenging cases where interlaminar approach is not possible. A 24-year-old woman with medical history of multiple spinal surgeries and instrumentations for the treatment of scoliosis, presented 3 months post-operatively with acute and severe orthostatic headaches that began 1 week after surgery. Neurological examination was normal. Brain magnetic resonance imaging (MRI) showed mild thickening and contrast enhancing in the bilateral dura. Computed tomography (CT) myelography revealed CSF leakage in the level of T3 vertebra. EBP was attempted using fluoroscopic and then CT guidance; however, despite multiple attempts, the epidural space could not be accessed through the interlaminar route due to extensive instrumentation of the spine and profound structural bony abnormalities. EBP was performed successfully via a CT-guided translaminar approach using an Ostycut trephine needle (Angiomed(®)/Bard, Karlsruhe), without complications.

Spontaneous intracranial hypotension due to intradural thoracic osteophyte with superimposed disc herniation: report of two cases.

Spontaneous intracranial hypotension (SIH) is a clinical syndrome in which absolute or relative hypovolemia of the cerebrospinal fluid (CSF) results in various neurological symptoms. The etiology of spontaneous CSF leaks often remains unknown. However, it is believed that the most common cause is the fragility of spinal meninges at the level of radicular nerve root sleeve. These tears can be spontaneous (primary) or secondary. Spinal pathologies can cause this tear with resultant CSF leak and SIH, which include spinal trauma, degenerative diseases and spinal surgery. Uncommonly, SIH is developed by osteophyte with disc herniation without any other pathology. In this article, we reported two cases of SIH secondary to spinal dural tear due to intradural thoracic osteophyte with superimposed disc herniation, with the absence of other pathologies, which were treated successfully with epidural blood patch (EBP).