Large Cisterna Magna Research Articles

Quantitative Analysis of Computer Tomography in Patients with First-Episode Paranoia Schizophrenia

Objective: The computer tomography (CT) feature in patients with first-episode paranoia schizophrenia (FEPS) changes obviously. The aim of this study is to explore the CT changes quantitatively in patients with FEPS, and to analyze its relationship with the clinical features. Method: The brain CT images of 30 patients diagnosed as FEPS clinically were retrospectively analyzed. The abnormal expression of brain structure and CT value in various left cerebral lobe were measured in them (FEPS group) and compared with that of 30 healthy subjects (control group). The relationship between CT value and clinical data was further analyzed. Result: The incidence of enlarged ventricles, widened sulc, large cisterna magna, and arachnoid cyst in FEPS group was larger than that in control group. The mean value of frontal lobe CT in FEPS group was significantly lower than that in control group (P < 0.05). There were no statistical significance in CT values of other cerebral lobe between two groups. The CT value of left fontal lobe of in male (32.24 ± 2.39 HU) was lower than that in female (34.56 ± 2.18 HU) patients (t = 2.402, P = 0.023). The correlation analysis showed no correlation was founded between CT value and age (r = 0.139, P = 0.531). There was no statistical significance of CT value in different level of education, Positive and Negative Syndrome Scale (PANSS) grades, disease course, living environment and occupation (all P > 0.05). Conclusion: Abnormal brain structure is prone to be found in patients with FEPS. CT value in left frontal lobe of FEPS patients is decreased, and is relative to the sex.

Dandy-Walker Malformation

Dandy-Walker Malformation

Cerebrovascular and Brain Abnormalities in Autosomal- Dominant Polycystic Kidney Disease: Role of 3d Time-of-Flight Magnetic Resonance Angiography

Introduction: The association of intracranial aneurysms and autosomal-dominant polycystic kidney disease (ADPKD) is well recognized. The aim of this study was to assess the prevalence of asymptomatic intracranial aneurysms and to verify the presence of other cerebral abnormalities in patients with ADPKD by Magnetic Resonance Angiography screening. Materials and methods: From January 2009 to September 2013, 56 patients with ADPKD (25 M, 31 F; mean age 40 years, range 24- 63 years) underwent brain Magnetic Resonance Imaging including 3D time-of-flight MR angiography and T2-weighted Turbo-Spin-Echo axial sequences. Magnetic Resonance studies were examined by two experienced neuroradiologists (20 years). If an intracranial aneurysm was detected, cerebral Computed Tomography Angiography was recommended and further action were discussed with the interventional neuroradiologist. Results: Nine saccular intracranial aneurysms were detected in 56 patients, located in the anterior circulation (5 internal carotid arteries, 1 anterior communicating artery and 3 middle cerebral arteries). Four patients underwent endovascular treatment with flow-diverter devices. We additionally found internal carotid artery abnormal diameter and course (6), basilar artery hypoplasia (1), basilar artery dolichoectasia (1), asymmetric anterior cerebral (4) and vertebral (14) arteries, vascular anatomic variants (3), venous drainage anomaly (1), arachnoid cysts (6), large bilateral choroid plexus cysts (1) and mega cisterna magna (2). Conclusions: The prevalence of asymptomatic intracranial aneurysms (16.1%), higher compared to the general population (1%) and similar to literature reports in autosomal dominant polycystic kidney disease (6-16%), confirmed the importance of the Magnetic Resonance Angiography screening in these patients.

Panventriculomegaly with a wide foramen of Magendie and large cisterna magna.

OBJECT The authors' goal in this paper is to provide the first clinical, radiological, and genetic studies of panventriculomegaly (PaVM) defined by a wide foramen of Magendie and large cisterna magna. METHODS Clinical and brain imaging data from 28 PaVM patients (including 10 patients from 5 families) were retrospectively studied. Five children were included. In adult patients, the age at onset was 56.0 ± 16.7 years. Tetraventricular dilation, aqueductal opening with flow void on T2-weighted images, and a wide foramen of Magendie and large cisterna magna (wide cerebrospinal fluid space at the fourth ventricle outlet) were essential MRI findings for PaVM diagnosis. 3D fast asymmetrical spin echo sequences were used for visualization of cistern membranes. Time-spatial labeling inversion pulse examination was performed to analyze cerebrospinal fluid movement. Copy number variations were determined using high-resolution microarray and were validated by quantitative polymerase chain reaction with breakpoint sequencing. RESULTS Adult patients showed gait disturbance, urinary dysfunction, and cognitive dysfunction. Five infant patients exhibited macrocranium. Patients were divided into 2 subcategories, those with or without downward bulging third ventricular floors and membranous structures in the prepontine cistern. Patients with bulging floors were successfully treated with endoscopic third ventriculostomy. Genetic analysis revealed a deletion in DNAH14 that encodes a dynein heavy chain protein associated with motile cilia function, and which co-segregated with patients in a family without a downward bulging third ventricular floor. CONCLUSIONS Panventriculomegaly with a wide foramen of Magendie and a large cisterna magna may belong to a subtype of congenital hydrocephalus with familial accumulation, younger age at onset, and symptoms of normal pressure hydrocephalus. In addition, a family with PaVM has a gene mutation associated with dysfunction of motile cilia.

Panventriculomegaly with a wide foramen of Magendie and large cisterna magna: clinical, radiological, and genetic analysis

The purpose of this study is to provide the first clinical, radiological, and genetic analysis of panventriculomegaly (PaVM) defined by a wide foramen of Magendie and large cisterna magna.

Impacted cisterna magna without syringomyelia associated or not with basilar impression and/or Chiari malformation

Abstract Objective: The objective of this paper is to analyze the surgical treatment of impacted cisterna magna without syringomyelia (SM) associated or not with basilar impression (BI) and/or Chiari malformation (CM). Method: The authors present, in this work, the results of five cases with impacted cisterna magna without SM which were associated with BI in four cases, tonsillar herniation in three patients when they were in the sitting position and in the other two cases there was not herniation in the sitting position. Results: The surgical treatment was characterized by a large craniectomy with the patient in the sitting position, tonsillectomy, large opening of the fourth ventricle and duraplasty with creation of a large artificial cisterna magna. An upward migration of the posterior fossa structures was detected by postoperative magnetic resonance imaging (MRI). Conclusion: The surgical treatment of impacted cisterna magna without SM remains unclear, however, a large craniectomy associated with tonsillectomy and creation of a large cisterna magna showed good results and a tendency of upward migration of the posterior fossa structures.

Resolution of syringomyelia in ten cases of "up-and-down Chiari malformation" after posterior fossa decompression

The authors describe ten cases of syringomyelia without hindbrain herniation depicted by preoperative magnetic resonance imaging (MRI) in supine position. However, the herniation was observed in all cases during the operation with the patient in sitting position. The postoperative MRI revealed an intense reduction of the syrinx in all patients, as well as it was also observed a clinical amelioration in all cases. The surgical treatment was based on a large craniectomy with the patient in sitting position, tonsillectomy, large opening of the fourth ventricle and duraplasty with creation of a large cisterna magna.

Developmental Outcome of Children With Enlargement of the Cisterna Magna Identified in Utero

An enlarged cisterna magna can be identified during routine ultrasound screening in the second half of pregnancy. It is important to be able to give an accurate prognosis. We evaluated the developmental outcome of these children. A total of 29 fetuses with a large cisterna magna identified in utero were compared to 35 children with a normal fetal ultrasound. The children were evaluated by the Gesell Developmental Schedules and the Peabody Developmental Motor Scale. The study group showed a significantly worse performance in the Gesell test. However, the overall performance for both groups was within normal limits. Four children in the study group had a borderline developmental quotient. Both groups performed similarly in the Peabody test. Walking age was significantly delayed in the study group. Children with an enlarged cisterna magna may be at risk for mild developmental delay. In cases of nonisolated enlargement of the cisterna magna, the outcome may be guarded.

OC033: Developmental outcome of children with a large cisterna magna diagnosed in‐utero

OC033: Developmental outcome of children with a large cisterna magna diagnosed in‐utero

Incidental findings in brain computed tomography scans of 3000 head trauma patients

Background Limited reports exist about intracranial incidental findings on computed tomography (CT) imaging. We studied the frequency of incidental findings on 3000 brain CT scans of trauma patients. Methods Three thousands standard brain CT scans of trauma patients were evaluated for some incidental findings. Cisterna magna was evaluated in 1500 CT scans. Results In this study we found 30 incidental abnormalities that include 8 cases of tumor: 3 meningioma, 2 craniopharyngioma, 1 oligodendroglioma, 1 low-grade astrocytoma, and 1 medulloblastoma. Suspect osteoma was found in 3 cases. In 3 cases, abnormal calcification was found in pineal region, basal ganglia, and temporal horn area. Three suspect lipomas were found in midline and near midline of the brain. Arachnoid cyst was found in 7 cases and hydrocephaly in 3 cases. Large cisterna magna (>10 cm 3) was found in 11 cases. Conclusion Cisterna magna enlargement was the most common incidental finding and brain tumor and arachnoid cyst were next in frequency.

KID Syndrome: Report of a Scandinavian Patient with Connexin‐26 Gene Mutation

Keratitis-ichthyosis-deafness syndrome is a rare genodermatosis, which has recently been connected with mutations in the connexin-26 gene, GJB2. We present a 15-year-old boy with erythroderma, hyperkeratotic plaques and deafness. Sequencing analysis showed a heterozygous missense mutation D50N (148G>A) in GJB2. The boy has not yet manifested characteristic eye lesions but his case shows that tardy development of eye signs should not preclude a clinical diagnosis of keratitis-ichthyosis-deafness syndrome. Besides the typical clinical features, the patient's height was above the 98th percentile and he displayed a delayed bone age in his hands. Additionally, he suffered from migrainoid headaches and the results of a magnetic resonance scan of the cerebrum showed he had a large cisterna magna which probably occurred independently from the syndrome. This patient is the first Danish patient in whom the keratitis-ichthyosis-deafness syndrome has been verified by mutation analysis.

Fetal magnetic resonance imaging.

Ultrafast magnetic resonance imaging (MRI) sequences have changed the use of MRI to evaluate fetal abnormalities. Currently, the best application is the evaluation of suspected brain abnormalities found on ultrasound. MRI differentiates the various types of fetal ventriculomegaly. Superior posterior fossa visualization allows differentiation of Dandy-Walker malformation from a large cisterna magna. Anomalies of the corpus callosum can be seen. MRI also is valuable in the evaluation of fetal giant neck masses for planning delivery of the baby and surgery for life-threatening airway obstruction. In the chest, MRI differentiates masses such as diaphragmatic hernia, cystic adenomatoid malformation, and sequestration, and it aids in planning fetal surgery because MRI directly visualizes the position of the lung, liver, and bowel.

Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: An inherited encephalopathy of childhood?

Two brothers with severe mental retardation of unknown origin were found to share several physical anomalies, including large round head, small concave nose, downslanted palpebral fissures, and gingival hyperplasia. In addition to relative macrocephaly, magnetic resonance imaging (MRI) showed severe cerebral atrophy, especially fronto-temporally. The brothers also had a thin corpus callosum and atrophic caudate nuclei. The reduced white matter showed patchy periventricular signal intensity changes. The lateral and third ventricles were large, but the fourth ventricle was of normal size. The boys had large cisterna magna, communicating widely with the fourth ventricle, but no vermian hypoplasia. Both boys had Lennox-Gastaut spectrum type epilepsy. No chromosomal anomalies were found, despite the suggestive clinical picture. Some of the clinical findings resembled fetal alcohol effects/fetal alcohol syndrome (FAE/FAS), which was also suggested by history. Current diagnostic criteria for FAE/FAS, however, excluded full-blown FAS in these cases and failed to explain the entire clinical picture in the boys. We argue that these boys had an unidentified inherited syndrome, possibly modified by fetal alcohol exposure.

MRI for the assessment of the malformed fetus

Ultrafast MRI sequences have changed the use of MRI for evaluating fetal abnormalities. Currently, the best application is the demonstration of normal fetal brain development and the further definition of suspected brain abnormalities found on ultrasound. MRI differentiates well the various types of fetal ventriculomegaly. Superior posterior fossa visualization allows differentiation of Dandy Walker malformation from a large cisterna magna. Anomalies of the corpus callosum and some disorders of neuronal migration can be seen. MRI is also valuable in the evaluation of fetal giant neck masses for planning delivery of the baby and surgery for life threatening airway obstruction. In the chest, MRI differentiates masses such as diaphragmatic hernia, cystic adenomatoid malformation and sequestration, and aids in planning fetal surgery because MRI directly visualizes the position of the lung, liver and bowel. MRI defines abnormalities of the urinary tract by demonstrating dysplastic pathology in the renal cortex and dilation of the collecting systems. Oligohydramnios does not effect MRI.

Severe Saethre-Chotzen syndrome in an infant with a complex chromosome rearrangement

Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostosis syndrome with variable expression. Analysis of chromosome translocations found in patients with SCS played an important role in mapping the SCS gene to 7p21 and the subsequent identification of the TWIST gene. SCS has been associated with point mutations within the TWIST gene as well as deletion of the entire gene. The purpose of this report is to present a patient with severe craniofacial features of SCS who has a complex chromosome anomaly.The patient was a product of a term gestation complicated by fetal ventriculomegaly and oligohydramnios. Physical examination in the neonatal period revealed cranial and facial asymmetry, brachycephaly, low posterior and anterior hairlines, midface hypoplasia, ptosis, broad thumbs and toes, and cryptorchidism. Imaging demonstrated bilateral coronal suture fusion, dilated lateral ventricles, partial agenesis of the corpus callosum, and a large cisterna magna. An echocardiogram revealed a VSD and ASD. At two months of age the infant had a bifrontal craniotomy and bilateral orbito-zygomatico-temporal osteotomies. At three months of age he appears to be developmentally delayed.The infant has a balanced four-way translocation between 1q, 2q, 7p, and 18p and a separate translocation between 7q and 18q. Parental karyotypes are normal. Successive FISH analyses using dual color whole chromosome paints, centromeric alpha satellite probes, and a telomeric probe for 18p confirmed these findings. The breakpoint on the short arm of chromosome 7p is assigned to 7p 15.3 and does not appear to interrupt band 7p21. Sequencing of the TWIST gene and FISH analysis using a probe specific for the TWIST region were normal. Southern blot analysis to assess dosage of the TWIST gene is pending. Mutation analysis of the FGFR genes and comparative genomic hybridisation are planned.It is possible that this infant's phenotype is the result of position effect on the TWIST gene or disruption of other genes associated with craniosynostosis This expanded cytogenetic and molecular armamentarium may allow us to determine the pathogenesis of this infant's condition and may provide further insight into the mechanisms for SCS.

Central nervous system abnormalities assessed with prenatal magnetic resonance imaging

Objective: To determine the frequency at which magnetic resonance imaging (MRI) provides additional information in fetuses with suspected central nervous system (CNS) abnormalities on ultrasound. Methods: Between May 1, 1996, and March 26, 1999, 83 women with 90 fetuses (including seven sets of live twins) had 91 ultrasonographic and MRI examinations of the fetal CNS. Eight women were studied twice, one for two different indications. If referrals came from outside our institution, a confirmatory sonogram was obtained. Indications for examination were ventriculomegaly ( n = 25), suspected neural tube defect ( n = 16), arachnoid cyst ( n = 12), large cisterna magna ( n = 11), and miscellaneous indications ( n = 20). Results: Magnetic resonance imaging findings led to changed diagnoses in 26 (40%) of 66 fetuses with abnormal confirmatory sonograms. Magnetic resonance imaging findings not found by ultrasound included partial or complete agenesis of the corpus callosum ( n = 11), porencephaly ( n = 6), hemorrhage ( n = 5), tethered cord ( n = 3), cortical gyral abnormality ( n = 2), cortical cleft ( n = 2), midbrain abnormality ( n = 2), and partial or complete agenesis of the septi pellucidi ( n = 3), as well as holoprosencephaly, cerebellar hypoplasia, subependymal and cortical tubers, vascular malformation, and vermian cysts (one case each). Abnormalities better delineated by MRI than ultrasound included three cephaloceles, a dural arteriovenous malformation, one distal sacral neural tube defect, and the mass effect of three arachnoid cysts. That information was used to alter patient counseling and at times management. Conclusion: When a CNS anomaly is detected by sonography or suspected on ultrasound, MRI findings might lead to altered diagnosis and patient counseling.

Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations?

We report two children of nonconsanguineous parents, with hypotonia, severe psychomotor retardation, short stature, a prominent forehead, ptosis, a wide flat nasal bridge, broad nasal tip, a high arched palate, bilateral small cerebellar hemispheres, vermis hypoplasia, a large cisterna magna, and an atrial septal defect and a duodenal stenosis in one case. These features are part of the 3C syndrome. The duodenal stenosis present in one of our sibs has not been reported before in this syndrome.

Fryns-Soekerman syndrome: Case report and review

Fryns-Soekerman syndrome has been described in three previous males. X-linked inheritance appears likely based on only males being affected and minor stigmata present in two of the mothers. Karyotypes in all cases have been 46,XY with no evidence for micro-deletion on high resolution studies. In our case, the pregnancy was complicated by oligohydramnios and left ovarian dermoid cysts. At delivery, the infant was cyanosed and hypotonic and required ventilatory support. The birth weight was 2400 grams (<5th percentile) with a length of 44.5 cm (<5th percentile). He was noted to have severe micrognathia and a cleft palate in keeping with Pierre Robin sequence. At age 3 months, he was found to have a patent ductus arteriosus and on ECG had a Wolff-Parkinson-White type B conduction defect. At age 9 years, because of increasing neurologic problems, an MRI scan of the cranium and spine was done which showed small cerebellum, large cisterna magna and fourth ventricle and two areas of syringomyelia. Imaging studies of the spine showed the marked kyphoscoliosis and high vertebral bodies in relation to the AP diameter and only eleven ribs. Bone age was delayed. Radiographs of the hips showed bilateral coxa vara, shallow acctabula and superolateral subluxation of the femoral heads. On examination at 9 years, occipitofrontal circumference was 51.6 cm (40th percentile) with his weight below the 5th percentile. The frontal hairline was upswept and hair sparse. The ears had 15° of posterior rotation. The nasal bridge was prominent with a high insertion. The repaired cleft palate was narrow and elevated with a bifid uvula. There was moderate retrognathia with prominent large central incisors and hypodontia. Sweat pores on the dermal ridges were not reduced.The mother had mild scoliosis which never required treatment but no other features suggesting she carried the gene. A maternal uncle had micrognathia and the maternal grandmother had scoliosis and a VSD. Review of family photographs did not suggest features of Fryns-Soekerman syndrome in these individuals.We feel our case represents the fourth case of Fryns-Soekerman syndrome and expands the phenotype to include syringomyclia, eleven ribs and Wolff-Parkinson-White type B.

Clinical significance of isolated enlargement of the cisterna magna (> 10 mm) on prenatal sonography.

Enlargement of the cisterna magna has been reported to be associated with aneuploidy. In prior studies of cisterna magna enlargement, however, those fetuses with abnormal chromosomes have had other sonographic abnormalities in addition to a large cisterna magna. Our goal was to assess the clinical significance of the isolated finding of a cisterna magna measuring more than 10 mm in anteroposterior dimension on a prenatal sonogram. We retrieved all prenatal sonograms performed at our institution between 1989 and 1996 in which an enlarged cisterna magna was the only sonographic abnormality. Cases were included in our study if the cisterna magna measured more than 10 mm in the appropriate plane and the fetal survey was otherwise normal, including normal cerebellar size and morphology. Pregnancy outcome and postnatal follow-up were obtained in each case. Fifteen cases comprised our study population. In all 15 fetuses, the enlarged cisterna magna was first seen in the third trimester (gestational age range, 26 to 37 weeks). The cisterna magna ranged from 11 to 19 mm in size (mean, 12.9 mm). All 15 pregnancies resulted in phenotypically normal liveborn infants. All the mother and infants had short hospital stays (1 to 4 days), and the infants were normal at discharge. Longer follow-up was available in eight cases (range, 2 to 69 months), and all eight of these infants were normal. Our results suggest that isolated enlargement of the cisterna magna to more than 10 mm is associated with normal pregnancy and neonatal outcome.

Perlman syndrome: report of a case with additional radiographic findings

Perlman syndrome is a rare autosomal recessive syndrome of macrosomia and nephromegaly associated with a significant predisposition to Wilms tumor. We report a premature infant with Perlman syndrome to demonstrate additional manifestations of this condition: large cisterna magna, intestinal malrotation, and skeletal abnormalities.