Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.

Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain and present significant challenges for clinical management. While most cases of ACs are sporadic, nearly 40 familial forms have been reported. Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, including Chudley-McCullough syndrome, acrocallosal syndrome, and autosomal recessive primary ciliary dyskinesia. These findings suggest that genetic factors contribute to AC pathogenesis. However, traditional linkage and segregation approaches have been limited in their ability to identify causative genes for ACs because the disease is genetically heterogeneous and often presents asymptomatically and sporadically. Here, we comprehensively review theories of AC pathogenesis, the genetic evidence for AC formation, and discuss a different approach to AC genomics that could help elucidate this perplexing lesion and shed light on the associated neurodevelopmental phenotypes seen in a significant subset of these patients.

Intracranial cysts: incidental or neurodevelopmental?

OBJECTIVES: Intracranial cysts are fluid-filled sacs within the brain. There is a diversity of intracranial cysts with different incidences in addition to the growing awareness about comorbidities and the consequences. The present study aimed to evaluate cystic findings in children who were admitted to the department of pediatric neurology. METHODS: Children who were admitted to the Clinic of Pediatric Neurology and who had an MRI between 2016 and 2021 were evaluated. The MRI examination was performed with the pediatric epilepsy protocol. Children with primary intracranial cysts were enrolled in the study. Demographic and clinical findings were evaluated from the hospital's database and patients' files. RESULTS: Among the 78 patients, 36 (46.2%) were male and 42 (53.8%) were female. The mean age was 7 ± 5.4 years. The most frequent presenting complaint was a seizure (47.4%). Approximately one-quarter (28.2%) had mental and/or motor retardation. Nine (11.5%) of the children had a neuropsychiatric diagnosis. Most of the cysts were located at the midline (41%) with the majority located extra-axial (71.8%) and supratentorial (78.2%). Arachnoid cysts were observed most frequently with a percentage of 64.1%, followed by pineal cysts (15.4%). The history of seizure, epilepsy, presence of mental retardation, and neuropsychiatric problems were evaluated according to the population ratios based on z approximation in which significantly higher rates were observed among cases with intracranial cysts. CONCLUSION: Intracranial cysts should be taken into consideration for comorbid pathologies, especially in the childhood period. Early evaluation in patients with intracranial cysts for developmental delay and neuropsychiatric problems is important.

How to understand an enlarged Meckel's cave? An anatomical study.

PURPOSE: Dilatation of the trigeminal cavum, or Meckel's cave (MC), is usually considered a radiological sign of idiopathic intracranial hypertension. However, the normal size of the trigeminal cavum is poorly characterized. In this study, we describe the anatomy of this meningeal structure. METHODS: We dissected 18 MCs and measured the length and width of the arachnoid web and its extension along the trigeminal nerve. RESULTS: Arachnoid cysts were clearly attached to the ophthalmic (V1) and maxillary (V2) branches until they entered the cavernous sinus and foramen rotundum, respectively, without extension to the skull base. Arachnoid cysts were close to the mandibular branch toward the foramen ovale, with a median anteromedial extension of 2.5 [2.0-3.0] mm, lateral extension of 4.5 [3.0-6.0] mm, and posterior extension of 4.0 [3.2-6.0] mm. The trigeminal cavum arachnoid had a total width of 20.0 [17.5-25.0] mm and length of 24.5 [22.5-29.0] mm. CONCLUSION: Our anatomical study revealed variable arachnoid extension, which may explain the variability in size of the trigeminal cavum in images and calls into question the value of this structure as a sign of idiopathic intracranial hypertension. The arachnoid web extends beyond the limits described previously, reaching almost double the radiological size of the cavum, particularly at the level of V3 afference of the trigeminal nerve. It is possible that strong adhesion of the arachnoid to the nerve elements prevents the formation of a true subarachnoid space that can be visualized by magnetic resonance imaging.

Optic nerve ultrasonography in the evaluation of the relationship between arachnoid cyst and headache.

AIM: This study is aimed to show the difference between optic nerve sheath diameter (ONSD) values in migraine patients with and without arachnoid cysts from migraine patients and control groups, and to evaluate the relationship with the arachnoid cyst size on magnetic resonance imaging (MRI) and their clinical severity. METHODS: This cross-sectional study included pediatric patients who were previously diagnosed with migraine and the control group. The patients consist of 3 groups. The first group was 24 patients with arachnoid cysts on brain magnetic resonance imaging (MRI) who met the diagnostic criteria for migraine (group 1); the second group was 20 patients with only headache without arachnoid cysts or other findings on brain magnetic resonance imaging (MRI) (group 2); the third group was completely healthy 20 control group. Demographic data of the patients, the onset of headache time, clinical severity, electroencephalography (EEG) findings, optic nerve sheath diameter (ONSD) measurements by ultrasonography, and the volume of arachnoid cyst on brain MRI were determined and compared. RESULTS: The optic nerve sheath diameter (ONSD) value was the highest in group 1 and the lowest in the control group (p: 0.001). The clinical severity was statistically different between the groups (p: 0.038). Accordingly, the majority of the clinical severity of group 1 was determined in grades 3 and 4. A weak positive correlation was found between the arachnoid cyst size on MRI and the ONSD measurement (r = 0.410, p = 0.047). The ONSD value statistically significantly increased with clinical severity in group 1 (p: 0.003). CONCLUSION: The reliability of the optic nerve sheath diameter (ONSD) measurements in determining the increase of the intracranial pressure was shown in previous studies. This is the first study in the literature presenting that the intracranial pressure effects of arachnoid cysts can be demonstrated by ONSD. We have considered that arachnoid cysts detected in headaches can create a compression effect and cause the pain to intensify.

[Symptomatic arachnoid cyst in an elderly patient who developed motor aphasia].

The patient was an 83-year-old woman with a history of breast cancer, distal right radial edge bone fracture, and cervical spine symptoms who had been diagnosed with an arachnoid cyst 9 years previously. She was examined by a nearby doctor, because of an approximately 1-year history of reduced verbal output; she also begun experiencing difficulties with walking. However, she was diagnosed with aging, a history of cervical spondylosis, and the effects of past fractures.At the time of this consultation, she was conscious and lucid, with mild right-sided hemiparesis, was unable to write, and had mild motor aphasia. Head magnetic resonance imaging revealed an arachnoid cyst (longer axis: 10 cm) in the left frontal lobe that did not take up contrast media. There was also a midline shift. The cause of the right hemiparesis and motor aphasia was probably compression of the left frontal lobe by the arachnoid cyst.We performed excision of the cyst wall by craniotomy and placed a cyst-peritoneal shunt under general anesthesia. At approximately one week after surgery, the patient was able to write and her motor aphasia improved. She was discharged 20 days after the operation.It is rare for an arachnoid cyst to increase in size after childhood. In the present case, surgical treatment led to a good outcome in an elderly patient with a symptomatic arachnoid cyst. Arachnoid cysts rarely increase in size. These cysts may become symptomatic in elderly people after lying clinically dormant for a long time.

Endoscopic treatment of suprasellar arachnoid cysts indenting third ventricle with obstructive hydrocephalus in children: Thirteen cases.

AIMS: The present study aimed to evaluate the clinical usefulness of endoscopic treatment of suprasellar arachnoid cysts indenting the third ventricle with obstructive hydrocephalus and discuss the clinical features and outcomes of thirteen children treated at our institution. METHOD: We treated thirteen pediatric cases of suprasellar arachnoid cysts indenting the third ventricle with obstructive hydrocephalus between January 2012 and September 2018. Five female and eight male patients were enrolled in the study. The patients had increased intracranial pressure symptoms due to hydrocephaly. Endoscopic treatment was performed in all cases. RESULTS: The patients were followed-up for an average of 36.8 months. The postoperative intracranial pressure findings improved. There was a reduction in the size of the cyst and ventricles and enlargement of the cortical sulci. One patient suffered transient oculomotor nerve deficit. No further surgical interventions, such as shunt placement, were required during the follow-up period. The head circumference of two of the patients with macrocephaly were stable during the follow-up. There were no postoperative recurrences detected. CONCLUSIONS: Endoscopic cyst fenestration and third ventriculostomy are less invasive, safer, and more effective ways to treat suprasellar arachnoid cysts indenting the third ventricle with obstructive hydrocephalus in children with hydrocephaly.

Volume change of cranial arachnoid cysts after successful endoscopic fenestration in symptomatic children.

INTRODUCTION: Endoscopic fenestration remains a first-line treatment option for symptomatic arachnoid cysts. After fenestration, the cyst does not collapse but reaches an equilibrium state. The aim of this study was to evaluate the change in cyst volume following successful fenestration and symptomatic improvement. METHODS: Cyst volume was measured on serial MR scans of 4 children (1 female, 3 males) with symptomatic arachnoid cysts (middle fossa n = 2, choroidal fissure n = 1 and posterior fossa n = 1), who experienced symptom resolution after endoscopic fenestration. Average follow-up was 20.5 months (range 3-48). RESULTS: Significant cyst volume reduction was seen in all four patients. In patient 1, preoperative cyst volume was 336 cm3 and decreased to 194 cm3 at 7 months (42% reduction). In patient 2, preoperative volume was 12.64 cm3 and reduced to 1.51 cm3 at 3 months (88% reduction). In patient 3, preoperative volume was 105 cm3 and reduced to 72 cm3 in 2 months (30% reduction). In patient 4, preoperative volume was 125 cm3 and reduced to 54 cm3 at 7 months (56% reduction). All remained stable after 7 months and there has been no late increase in volume. CONCLUSIONS: Significant reduction in arachnoid cyst volume at the order of 30-40% is seen after successful endoscopic fenestration. The cyst volume appears to decrease gradually in the first 3-7 months and reaches a plateau after that. Complete resolution of symptoms in the presence of residual volume may indicate that cyst volume below a threshold may not correlate directly with clinical status.

Spinal Extradural Arachnoid Cyst: Significance of Intrathecal Infusion after Fistula Closure.

The spinal extradural arachnoid cyst is a rare entity. Obtaining the correct diagnosis and detecting the fistula location are critical for providing effective treatment. A 41-year-old man had numbness in the soles of his feet for 2 years with accompanying gait disturbance, and a defecation disorder. Computed tomography myelography performed at another hospital revealed an epidural arachnoid cyst from Th11 to L2. He received a subarachnoid-cyst shunt at the rostral part of the cyst. However, his symptoms worsened and he was admitted to our hospital. Neuroradiological investigations revealed the correct location of the fistula at the level of Th12. We performed partial removal of the cyst wall with fistula closure via right hemilaminectomy of Th11 and 12. The complete closure of the fistula was confirmed by intrathecal infusion of artificial cerebrospinal fluid through the shunt tube. The shunt tube was removed with the sutures. The patient's symptoms improved, although numbness remained in his bilateral heels. There has been no recurrence in 15 months since the surgery. Fistula closure may work as a balanced therapeutic strategy for spinal extradural arachnoid cyst, and intrathecal cerebrospinal fluid infusion is useful for the confirmation of complete fistula closure.

Pediatric intraventricular arachnoid cysts in the body of lateral ventricle: surgical outcome and its embryologic background.

PURPOSE: The aim of this study is for the surgical treatment and outcome of the endoscopic fenestration of the arachnoid cyst located in the ventricular body to trigone in the pediatric population. Special concern was paid for the developmental origin of the intraventricular cysts estimated from the postoperative follow-up neuroimagings. PATIENTS AND METHODS: Between July 2002 and June 2015, we performed endoscopic and partly CT/MRI navigated fenestrations of intraventricular arachnoid cysts located at the body to trigone of the lateral ventricle in ten pediatric patients aged 2 months to 5 years. Based on the long axis of the cyst, we have opted for two surgical approaches: anterior approach via burr hole at Kocher's point and posterior approach via burr hole at the posterior occipital region. Fenestration was performed based on the intraoperative findings, either ventriculocystostomy, ventriculocystoventriculostomy, or ventriculocystocisternostomy. RESULTS: Intraventricular arachnoid cysts located in the body-trigone region showed a favorable outcome after endoscopic fenestration. All of the cysts shrank postoperatively. Follow-up neuroimagings taken between 6 and 126 months after surgery strongly suggested its relationship with the midline cisterns. Of our ten cases, eight were suggestive for originating from the velum interpositum cistern while two seemed to root from the quadrigeminal cistern. CONCLUSION: In the present study, we found that endoscopic fenestration of intraventricular arachnoid cysts in the body to trigone is a safe procedure with a satisfactory outcome. In our limited experience, there are two anatomic backgrounds; velum interpositum cistern and quadrigeminal cistern. Differentiation can be possible by neuroimagings, especially those obtained after surgery.

Congenital left temporal large arachnoid cyst causing intraorbital optic nerve damage in the second decade of life.

AIM: Intracranial sylvian arachnoid cysts are often asymptomatic lesions. We present a 16-year-old female patient with progressive loss of vision together with an unusual visual field defect on the left eye accompanied by headache. METHOD: A left frontotemporal sylvian arachnoid cyst was known since she was 9 months old, but observed ever since in the asymptomatic patient. Now, ophthalmological examination revealed bi-upper quadrant anopia on the left eye. Magnetic resonance imaging (MRI) and computed tomography showed erosion of the lateral orbital wall associated with intraorbital compression of the optic nerve by the cyst at the entrance into the optic canal. Microsurgical cyst fenestration to the basal cisterns was performed using a temporal mini-craniotomy. RESULT: Full improvement of vision and visual field defects was observed in the follow-up. On postoperative MRI, an increase of the tissue surrounding the optic nerve in the conus and better delineation at the entrance of optic canal was noted. CONCLUSION: Long-standing asymptomatic sylvian arachnoid cysts may suddenly produce severe unilateral visual deficits if the cyst erodes the lateral orbital wall. These deficits may rapidly revert to normal if surgical action is not delayed. If surveillance MRIs of sylvian arachnoid cysts show a narrowing of the conus diameter compared to the contralateral side, a yearly ophthalmological surveillance examination seems to be warranted in else wise asymptomatic patients.

Ectopic cerebellar tissue of the posterior cranial fossa: diffusion tensor tractography and MR spectroscopy findings.

PURPOSE: Well-differentiated ectopic cerebellar tissue is extremely rare, with only 12 cases in the literature. Here, we describe a unique case of radiologically proven ectopic cerebellar tissue, using diffusion tensor tractography (DTT) and MR spectroscopy (MRS) findings, in a 6-day-old newborn. CASE: A 6-day-old newborn who had previously a fetal MRI referred to our department with the suspicion of an arachnoid cyst of the posterior fossa. Including the central nervous system, all of his physical examination tests were normal. Postnatal transcranial ultrasound (US) imaging and brain MRI also revealed a large posterior fossa cyst and a solid mass nearby the cerebellar tissue. The tissue showed a small connection and isointense signal with the cerebellum. Upon DTT, both the cerebellum and nearby solid tissue represented the same FA values. Tractographic studies showed a connection with fibers extending along the left cerebellar hemisphere from this tissue. The single voxel MRS of this solid tissue also revealed high choline (Cho) and a smaller N-acetylaspartate (NAA) concentration similar to that of the normal newborn cerebellum. CONCLUSION: Ectopic cerebellar tissue can be characterized by advanced neuroimaging tools, like DTT and MRS, which provide information about brain metabolite concentrations and the microstructural integrity. In this way, unnecessary surgery can be avoided in order to obtain a histopathological diagnosis.

[Rare location of arachnoid cysts. Extratemporal cysts]. / Quistes aracnoideos de localización infrecuente. Quistes extratemporales.

The therapeutic management of arachnoid cysts depends largely on its location. Almost 50% of arachnoid cysts are located in the temporal fossa-Sylvian fissure, whereas the other half is distributed in different locations, sometimes exceptional. Under the name of infrequent location arachnoid cysts, a description is presented of those composed of 2 sheets of arachnoid membrane, which are not located in the temporal fossa, and are primary or congenital.

[Intracranial arachnoid cysts in the clinical and radiological aspect].

Arachnoid cysts are intracranial pathologies in the space between the pia mater and the dura mater of the brain and cerebellum. Arachnoid cysts are derived from the arachnoidea mater, which while yielding to germination or splitting creates a space filled with liquid with a composition similar to cerebrospinal fluid. The aim of the study is to present possible clinical symptoms and radiological presentation of intracranial arachnoid cysts. The symptoms of intracranial arachnoid cysts are dependent on its size and location. Small cysts are often asymptomatic, while reaching a large size they have the effect of weight, which can lead to oppression and displacement of neurovascular structures, increased intracranial pressure, and therefore such cysts may be the reason for the occurrence of neurological symptoms. Increasing headaches, dizziness, nausea with or without vomiting, stiff neck may even feign subarachnoid hemorrhage (SAH). In neuroimaging arachnoid cysts account for 1-2% of all intracranial pathologic masses. The most common location of arachnoid cysts is down the middle and rear of the skull in natural bodies of cerebrospinal fluid. Arachnoid cysts have a high rate of change. They can undergo spontaneous growth as well as the reduction or disappearance. Headaches, nausea or vomiting, worsening of mood, mental status changes, ataxia, seizures, hearing loss may be symptoms of serious intracranial pathology requiring diagnosis based on neuroimaging.

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the clinically well-established Chudley-McCullough syndrome (CMS). Although not always reported in the literature, frontal polymicrogyria and gray matter heterotopia are uniformly present, whereas cerebellar dysplasia, ventriculomegaly, and arachnoid cysts are nearly invariant. Despite these striking brain malformations, individuals with CMS generally do not present with significant neurodevelopmental abnormalities, except for hearing loss. Homozygosity mapping and whole-exome sequencing of DNA from affected individuals in eight families (including the family in the first report of CMS) revealed four molecular variations (two single-base deletions, a nonsense mutation, and a canonical splice-site mutation) in the G protein-signaling modulator 2 gene, GPSM2, that underlie CMS. Mutations in GPSM2 have been previously identified in people with profound congenital nonsyndromic hearing loss (NSHL). Subsequent brain imaging of these individuals revealed frontal polymicrogyria, abnormal corpus callosum, and gray matter heterotopia, consistent with a CMS diagnosis, but no ventriculomegaly. The gene product, GPSM2, is required for orienting the mitotic spindle during cell division in multiple tissues, suggesting that the sensorineural hearing loss and characteristic brain malformations of CMS are due to defects in asymmetric cell divisions during development.

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: Embriology and pathology]. / Quistes aracnoideos: embriología y anatomía patológica.

There is still great controversy surrounding the origin of the arachnoid cyst. The most accepted theory in the case of congenital cysts explains how they are formed from an anomalous development of the arachnoid membrane, which is unfolded allowing the accumulation of cerebrospinal fluid inside and creating a cyst. This theory seems to explain the origin of convexity and sylvian cistern arachnoid cysts, whereas those in other locations might be due to other mechanisms. In the anatomopathological analysis, the arachnoid cyst wall can be seen as having few differences from normal, although thickened due to an increase quantity of collagenous material. A description of the embryological development of the arachnoid layer and cyst formation is presented, describing the main anatomopathological findings.

Headache and arachnoid cysts.

Arachnoid cysts are commonly encountered when neuroimaging is obtained for headaches. Their clinical relevance is not always immediately clear and they may confound medical management.

The efficacy of neuroendoscopic treatment for middle cranial fossa arachnoid cysts assessed by MRI 3D segmentation and modeling.

PURPOSE: The purpose of this study was to present a more precise and objective way to assess the effectiveness of neuroendoscopic application in the treatment of middle cranial fossa arachnoid cysts. METHODS: Between March 2009 and December 2012, 28 patients affected by middle cranial fossa arachnoid cysts were initially treated with endoscopic fenestration at the three spaces. The volumes of the cysts on MR images at the time of pre-op and 4 months after surgery were reconstructed by 3D Slicer and quantitatively calculated to compare the volumetric changes. The possible predisposing factors of surgical outcomes were analyzed as well. RESULTS: All the models of the cysts were successfully reconstructed, and the mean volume of the cysts was 135.77 ± 90.43 cm(3) before surgery and 93.08 ± 100.31 cm(3) after surgery at 4 months follow-up (t = 2.98, P = 0.006). The volumes of those two cases (7.14 %), presenting intracranial hypertension and ventricular dilation after surgery, were dramatically increased, whereas the others were decreased in 20 cases (71.43 %) or remained unchanged in 6 cases (21.43 %). There was significant difference on the age factor among the three result groups (P = 0.001). CONCLUSIONS: The reconstruction of 3D for the assessment of the endoscopic fenestration outcomes is a feasible and precise way for clinical work. The variety of outcomes probably depends on age discrepancy.

Acute hydrocephalus in a child with a third ventricle arachnoid cyst and coincidental enteroviral meningitis.

We present a 2.5-year-old child suffering from acute hydrocephalus. First, the child was diagnosed with aseptic viral meningitis. The PCR of the cerebrospinal fluid (CSF) was positive for enterovirus. Subsequently, MRI revealed that the hydrocephalus was caused by a cyst in the third ventricle. During ventriculoscopy, the cyst had all aspects of an arachnoid cyst. An endoscopic fenestration and partial removal of the cyst was performed, combined with a ventriculocisternostomy. The coincidental finding of viral meningitis and a third ventricle arachnoid cyst in a patient with acute hydrocephalus has, to our knowledge, not been described in literature before. If there is a relation between the enteroviral meningitis, the arachnoid cyst (possibly causing a pre-existing subclinical hydrocephalus) and the rapidly evolving neurological deterioration, remains speculative. Proposed mechanisms, by which the viral meningitis could accelerate the disease process, are slight brain swelling or increased CSF production. This rare combination of diagnoses could also be coincidental.