WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts.

A rare form of osteogenesis imperfecta (OI) caused by Wingless-type MMTV integration site family 1 (WNT1) mutations combines central nervous system (CNS) anomalies with the characteristic increased susceptibility to fractures. We report an additional case where arachnoid cysts extend the phenotype, and that also confirms the association of intellectual disabilities with asymmetric cerebellar hypoplasia here. Interestingly, if the cerebellum is normal in this disorder, intelligence is as well, analogous to an association with similar delays in a subset of patients with sporadic unilateral cerebellar hypoplasia. Those cases typically appear to represent vascular disruptions, and we suggest that most brain anomalies in WNT1-associated OI have vascular origins related to a role for WNT1 in CNS angiogenesis. This unusual combination of benign cerebellar findings with effects on higher functions in these two situations raises the possibility that WNT1 is involved in the pathogenesis of the associated sporadic cases as well. Finally, our patient reacted poorly to pamidronate, which appears ineffective with this form of OI, so that a lack of improvement is an indication for molecular testing that includes WNT1.

Bilateral cerebellopontine arachnoid cyst: A rare entity.

Bilateral cerebellopontine angle (CPA) arachnoid cysts (ACs) are very rare: only one case is reported in literature. Pathogenesis of those cysts is unknown; they are thought to be congenital. The presenting symptoms of CPA AC are frequently nonspecific or otological. The management of ACs of the CPA is controversial. We are reporting two cases of bilateral CPA AC with their pathophysiology and review of literature.

[Arachnoid cysts. Historical evolution of the concept and pathophysiological theories]. / Quistes aracnoideos. Evolución histórica del concepto y teorías fisiopatológicas.

Arachnoid cysts of central nervous system are benign collections filled with a liquid that is equal o similar to cerebrospinal fluid, coated with a single layer or flattened arachnoid cells membrane, congenital or secondary to trauma, meningitis or hemorrhage. First described by Bright in 1931, its definition and possible pathophysiology has been debated to date. Our objective is to present a summary of this process.

Pre- and post-operative dizziness and postural instability in temporal arachnoid cyst patients.

OBJECTIVES: Arachnoid cysts (AC) are benign, congenital malformations of the leptomeninges, with a predilection for the temporal fossa. In our clinical experience, patients with temporal AC often complain of dizziness and imbalance. However, these symptoms and the effect of surgery on them have not been studied before. MATERIALS AND METHODS: Dizziness and imbalance in patients with temporal AC were quantified before and after surgical cyst decompression, using the Dizziness Handicap Inventory (DHI), Vertigo Symptom Scale - Short-Form (VSS-SF) and computerized dynamic posturography (CDP). The study includes 16 patients with temporal AC and 15 control subjects undergoing surgery for benign lesions of the larynx (n = 10) or the parotid glands (n = 5). All participants answered the DHI and VSS-SF and underwent CDP the day before and 3-6 months after surgery. The patients with AC also graded their dizziness through the use of a visual analogue scale (VAS). RESULTS: Preoperatively, cyst patients scored higher than controls on subjective symptoms (DHI, VSS-SF A and VSS-SF V), but not on postural sway (CDP). Symptom scores decreased after surgery; the cyst patients improved significantly in the subjective tests (DHI, VAS and VSS-SF), while CDP scores did not. In the controls, symptom and CDP scores were unchanged after surgery. CONCLUSIONS: Patients with temporal AC have a significant preoperative impairment and post-operative improvement in their subjective dizziness, but not in postural sway as measured by CDP.

Maze learning in patients with intracranial arachnoid cysts.

BACKGROUND: The temporal lobe is of importance for visuospatial orientation. Intracranial arachnoid cysts have a predilection for the temporal fossa, and might therefore affect visuospatial orientation. The aim was to find out whether temporal cysts affect maze learning and if surgical cyst decompression improves maze performance. METHODS: Forty-five patients with a temporal arachnoid cyst and 17 control patients with cervical disc disease were tested in a labyrinth route in the hospital corridors the day before surgery and at least 3 months postoperatively. RESULTS: Thirty-five cyst patients (78 %) experienced postoperative improvement of their preoperative complaints. The cyst patients spent significantly longer time than the controls navigating through the maze in the preoperative test, 161 s and 127 s, respectively, but there was no difference in number of errors between the two groups. However, the cyst patients improved significantly in the postoperative test, both with regards to number of errors they made and time spent, contrary to the control patients, whose postoperative performance equalled that of the preoperative test. For the cyst patients, postoperative improvement in the labyrinth test correlated with the clinical outcome-but not the neuroradiological outcome-after the operation. CONCLUSIONS: Thus, temporal arachnoid cysts may affect visuospatial orientation and learning in a reversible manner.

The endocrine spectrum of intracranial cysts in childhood and review of the literature.

Intracranial cysts (ICC) may cause a wide spectrum of endocrinological disorders. We evaluated 27 patients who were diagnosed with ICC during investigation for neuroendocrine dysfunctions and reviewed the relevant literature. The types of ICC in the patients were arachnoid cysts (n = 13); Rathke cleft cysts (n = 7); pineal cysts (n = 5); an ependymal cyst (n = 1) and a cavum septum pellucidum cyst (n = 1). The neuroendocrine dysfunctions of the patients were obesity (n = 7), isolated growth hormone deficiency (n = 6), central precocious puberty (n = 6), multiple pituitary hormone deficiency (n = 3), central diabetes insipidus (n = 1), growth hormone deficiency and central precocious puberty (n = 1), obesity and galactorrhea (n = 1), obesity and hypogonadotropic hypogonadism (n = 1) and growth hormone neurosecretory dysfunction (n = 1). Only three patients, who had arachnoid cysts, showed neurologic symptomatology. Although three patients underwent surgery, no improvements in endocrinological dysfunctions were observed. ICC should be considered when evaluating patients with endocrinological problems and patients with coincidental ICC should be recommended for follow-up.

Rupture of middle fossa arachnoid cyst simulating new-onset migraine with aura.

Arachnoid cysts represent a common, innocent, finding in routine neuroimaging of headache patients. We present the first report of symptomatic migraine with aura caused by the spontaneous rupture of a middle fossa arachnoid cyst into the subdural space. Brain imaging enabled an accurate diagnosis and, subsequently, adequate surgical management.

Arachnoid cysts of the fourth ventricle - short illustrated review.

Arachnoid cysts are frequent anomalies of the CNS. They are benign lesions within the arachnoid membrane and have been reported to occur in virtually all locations where arachnoid is present. An intraventricular location, however, is rare and occurrence within the fourth ventricle is particularly uncommon. The first report was published in 1979 on a paediatric patient. Since then, only a few further examples have been reported. Most of these patients presented with hydrocephalus. Shunting procedures were performed, but did not afford long-term improvement of symptoms. Definitive treatment consisted of open resection of the cyst-wall. We report a 34-year-old woman with a large arachnoid cyst within the fourth ventricle who suffered from progressive cerebellar dysfunction. MRI showed massive enlargement of the fourth ventricle by an intraventricular arachnoid cyst which contained multiple septations. Complete excision of the cyst was necessary to reinstitute free CSF-flow and was performed via a median suboccipital approach. This report gives an overview of examples published to date and discusses pathogenesis and clinical features of arachnoid cysts in this location as well as operative strategies including neuroendoscopic techniques.

Cerebellopontine angle arachnoid cyst containing ectopic choroid plexus--case report.

We present a rare and interesting case of a cerebellopontine angle cyst containing ectopic choroid plexus tissue in a 26 year-old female. Surgical resection was performed, and histological examination confirmed the presence of choroid plexus in the cyst wall. This is the first reported case of ectopic choroid plexus at the cerebellopontine angle in an adult. We present the case and review the literature.

Pulsatile wall movement of spinal arachnoid cyst deteriorates spinal cord symptoms: report of three cases.

INTRODUCTION: Symptomatic spinal arachnoid cyst is a rare disease and the pathophysiology causing spinal cord symptoms has not been well clarified. PATIENTS AND METHODS: The authors report three symptomatic cases of spinal arachnoid cyst at the thoracic level. These patients, aged from 70 to 73 years, showed progressive gait disturbance for a few months before admission. Phase-contrast cine magnetic resonance imaging demonstrated significant compression at the rostral side of the cyst during the diastolic phase of the cardiac cycle. Intraoperative ultrasonography demonstrated that the maximum expansion of the cyst and compression of the dorsal spinal cord occurred when the cerebrospinal fluid moved rostrally during diastole. All patients showed good improvement of their symptoms after surgical removal of the arachnoid cyst. CONCLUSION: This report proposes the pathophysiology that the pulsatile enlargement of the arachnoid cyst during diastolic cardiac phase can be an important factor for deterioration of spinal cord symptoms.

Intra-dural spinal arachnoid cysts: a short series of 10 patients.

OBJECTIVE: To describe intra-dural arachnoid cysts as the cause of compressive myelopathy. MATERIAL AND METHODS: A short series of 10 patients harbouring intra-dural arachnoid cysts is described. A detailed description of symptomatology, radiological findings, surgical approach, techniques and outcome is discussed. Microsurgical excision was performed in all patients. In two patients, intra- and extra-spinal communications of cysts were found and were ligated. RESULTS: Good long-term results were achieved in all 10 patients, after surgical intervention. CONCLUSION: Rarely, intradural, extramedullary lesions like arachnoid cysts may lead on to compressive myelopathy causing spastic paraparesis. Except for the catastrophic complication like intra-cystic haemorrhage or subdural haematoma, the fatal complication is unlikely. The congenital dural defect is considered the cause behind the development of these cysts. Though uncommon, but intradural arachnoid cysts are important cause of compressive myelopathy. These lesions are curative, if excised surgically with precision.

Endoscopic removal of a suprasellar arachnoid cyst: an anatomical study with special reference to skull base.

BACKGROUND: Suprasellar arachnoid cysts are rare entities in adults, representing 10% of all cysts. Endoscopic treatment is now preferred for this pathology, allowing a new anatomical approach to skull base structures. OBJECTIVES: The aim of this study is to present the relevant anatomy of the skull base viewed during an endoscopic procedure for a suprasellar arachnoid cyst. METHOD: A 77-year-old man with 6 months history of walking disorder was referred for neurosurgical evaluation. Physical examination did not show any oculomotor or endocrine disorder. Sagittal T1-weighted MRI demonstrated a large suprasellar arachnoid cyst. The patient underwent a ventriculocystocisternostomy without complications. Postoperative neurologic examination showed an initial improvement of walking disorders. Cerebral CT scan showed a slight reduction in cyst dimensions. RESULTS: During the endoscopic procedure, the anatomical view of the skull base was demonstrative. From the interior of the cyst we were able to identify the following structures: the clivus, pituitary stalk, pituitary gland, basilar artery, posterior cerebral arteries, posterior communicating arteries, oculomotor nerves and the superior wall of cavernous sinus. We identified a slit valve mechanism in the arachnoid next to the basilar artery. CONCLUSION: Ventriculocystocisternostomy is a useful procedure in treating arachnoid cyst. Moreover, during this procedure, the endoscope allows for better and safer visualization of skull base structures.

Clinical performance of fixed-pressure Sphera Duo® hydrocephalus shunt.

INTRODUCTION: Cerebral hydrodynamics complications in shunted patients are due to the malfunction of the system. The objective of this retrospective, single-center, single-arm cohort study is to confirm the safety and performance of Sphera® Duo when used in adult patients suffering from hydrocephalus, pseudotumor cerebri or arachnoid cysts. METHODS: Data were generated by reviewing 112 adult patient's charts, who were submitted to a ventriculoperitoneal shunt surgery and followed for one year after surgery. RESULTS: The results show us that 76% of patients had their neurological symptoms improved and that the reoperation rate was 15% in the first year following surgery. DISCUSSION: Sphera Duo® shunt system is an applicable shunt option in routine neurosurgical management of hydrocephalus by several causes. It has presented good results while mitigating effects of overdrainage. Overdrainage is especially important in adults with non-hypertensive hydrocephalus and can cause functional shunt failure, which causes subnormal ICP (particularly in the upright position) and is associated with characteristic neurological symptoms, such as postural headache and nausea. CONCLUSION: Sphera Duo® shunt system is safe when used in adult patients suffering from hydrocephalus, pseudotumor cerebri or arachnoid cyst.

Endoscopic treatment of intraventricular cerebrospinal fluid cysts: 10 consecutive cases.

INTRODUCTION: The use of the endoscope for lesions of the central nervous system has been progressively widened in the past decades. Among these lesions, the intraventricular cyst is one of the most attractive targets for this less invasive procedure. METHODS: Between 2003 and 2007, ten consecutive patients with IVC underwent endoscopic surgery in our department. The location of the cyst was the lateral ventricle in nine, the lateral and third ventricles in one. The cyst was resected or fenestrated according to the degree of adhesion of the cyst wall with the ventricular wall. The follow-up ranged from 6 months to 54 months (mean: 22.5 months). RESULTS: The cyst was totally removed in three, subtotally removed in one, and fenestrated in six cases. Except for transient fever, there was no post-operative morbidity. During follow-up, all patients were doing well. CONCLUSION: The endoscopic technique is a good treatment option with the advantage of minimal invasiveness and less complications. The extension of the cyst and whether the hemisphere involved is dominant or not, determines the ideal endoscopic trajectory. The long-term efficacy of the endoscopic technique in treatment of IVC needs further evaluation.

Association between ELP4 rs986527 polymorphism and the occurrence and development of intracranial arachnoid cyst.

OBJECTIVE: The association between ELP4 rs986527 polymorphism and the occurrence and development of intracranial arachnoid cyst was studied in this paper. METHODS: Eighty-five patients diagnosed with intracranial arachnoid cysts by cerebral computed tomography scan were selected. Sixty-three healthy volunteers for medical examination in hospitals served as controls. The cognition, depressive symptoms, and the likelihood of headache, dizziness, head trauma history, dementia, depression, and epilepsy were assessed. ELP4 genotypes and its allele frequency were determined by PCR, endonuclease restriction analysis, and gel electrophoresis. RESULTS: ELP4 rs986527 had three genotypes: TT, TC, and CC. The intracranial arachnoid cyst group showed no statistically significant difference in genotype frequencies compared with healthy controls. There was no significant correlation between ELP4 rs986527 polymorphism and location of intracranial arachnoid cyst. TC and C genotype frequencies were associated with a higher incidence of clinical symptoms than TT genotype frequencies, and C allele frequencies were associated with a significantly higher incidence of clinical symptoms compared with T allele frequencies. There was no significant difference in TNF-α and IL-1ß levels between TT/TC/CC genotypes before treatment. After treatment, the levels of TNF-α and IL-1ß were significantly decreased in different genotypes, and the decrease in CC was the greatest. The frequency of TT and TC genotypes was higher than that of CC genotypes. CONCLUSION: ELP4 rs986527 polymorphism affected the incidence of clinical symptoms and the levels of TNF-α and IL-1ß in patients with intracranial arachnoid cysts.

Spinal Arachnoid Cysts: Presentation, management and pathophysiology.

OBJECTIVE: Evaluation of the presentation and outcomes associated with surgical marsupialisation of spinal arachnoid cysts and formulation of a putative hypothesis explaining their pathogenesis. PATIENTS AND METHODS: Cases were identified from electronic and theatre records at a single centre. All patients underwent pre-operative assessment and radiographic evaluation with subsequent spinal multidisciplinary discussion. Following surgery patients were reviewed at 6, 12 weeks, 6-months and beyond. RESULTS: A total of 17 patients with dorsal thoracic arachnoid cysts with a mean age at time of surgery of 58 years with a male to female ratio of 1.8:1 were identified. Paraesthesia (76%), neuropathic pain (76%), weakness (47%) and unsteadiness (53%) were the commonest presenting complaints. Abnormal gait (76%), altered sensation (71%) and weakness (47%) were the most commonly observed signs. Average cyst volume was observed to be 2570 mm3 (sd ±1682, range 544 to 7644 mm3), spanning a median of 2 thoracic levels, with a resultant reduction of cord volume of 33% (sd 12%). A syrinx was associated with 35% of SAC. All cases underwent marsupialisation of the arachnoid cyst. Six months following surgery all patients experienced improvement in at least of one their presenting symptoms and or clinical signs. Weakness, gait and paraesthesia were most likely to improve following surgery. Only 29% of cases had resolution of neuropathic pain, with 13% of the rest reporting an improvement in the sensitivity component of their pain. Clinical improvements correlated with an average 45% (sd 18%) volume increase in previously compressed cord. CONCLUSION: Intradural arachnoid cysts commonly present with paraesthesia, neuropathic pain and gait disturbance. Marsupialisation of the SAC heralds immediate and long-term improvement in symptoms. Cysts putatively arise within a dissection in the septum posticum and give rise to both dynamic and static compression of cord parenchyma secondary to the complex CSF flow dynamics within the thoracic spine.

Visualization of cerebrospinal fluid movement with spin labeling at MR imaging: preliminary results in normal and pathophysiologic conditions.

Institutional review board approval and informed consent were obtained for this study. This study was HIPAA compliant. The purpose of this study was to visualize the movement of cerebrospinal fluid (CSF) noninvasively by using an unenhanced magnetic resonance imaging technique. A time-spatial labeling inversion pulse (SLIP) technique was applied to label, or tag, CSF in a region of interest. The tagged CSF was clearly visualized at inversion times of 1500-4500 msec after pulse labeling in both intracranial and intraspinal compartments. Noninvasive visualization of CSF movement, including bulk and turbulent flow, in normal (n = 7) and altered (n = 2) physiologic conditions was possible by using the unenhanced time-SLIP technique.

A case with prepontine (clival) arachnoid cyst manifested as trigeminal neuralgia.

Most cases of "idiopathic" trigeminal neuralgia are thought to originate from vascular compression of the trigeminal root entry zone. In this case, we describe a young man presenting with the symptoms of trigeminal neuralgia associated with a prepontine (clival) arachnoid cyst.

Asymptomatic massive subdural hematoma in a patient with bitemporal agenesis and bilateral temporal arachnoid cysts.

The case of a 38-year-old man with a history of chronic migraine is reported. Despite a 3 week history of changes in his migraine pattern, a normal neurologic examination led to conservative treatment. He later presented with worsening headaches and imbalance; tendon reflexes were increased on the right side, and brain computed tomography and magnetic resonance imaging revealed a massive subacute subdural hematoma over the left hemisphere, developing on the grounds of bilateral temporal agenesis. The presence of bilateral temporal arachnoid cysts along with bitemporal agenesis altered clinical findings, causing only mild symptoms where an otherwise acute and devastating neurologic deterioration would be expected.