Interhemispheric Cyst Research Articles

Pediatric interhemispheric arachnoid cyst: An institutional experience.

Background:Interhemispheric arachnoid cysts (IHACs) are a rare type of congenital arachnoid cyst accounting for <5% of all cases. The optimum surgical management of symptomatic IHAC is still controversial, and there are no clear guidelines.Materials and Methods:Retrospective analysis of six pediatric patients of IHAC operated from 2012 to 2015 at our institute. There was definitive sex predisposition with all patients being males. Endoscopic cystoventriculostomy, cystocisternostomy, and cystoperitoneal shunt surgeries were performed in three patients each.Results:The median age at presentation was 13 months. The most common clinical presentations were macrocrania with rapidly increasing head size, seizures, infantile spasms, and developmental delay. The mean duration of follow-up was 24.16 months (range: 3–36 months). Cyst size decreased in all the patients on follow-up imaging. Head size stabilized in all the patients. None of the patients required a second surgical procedure till the last follow-up.Conclusions:Both endoscopic cyst fenestration and shunt surgery are safe and effective in management of IHAC.

CT Imaging in Pediatric Nasofrontal Cephaloceles

The purpose of this study was to describe the use of cranial computerized tomography (CT) imaging in children with nasofrontal cephaloceles. We report the results in six children, four females and two males, aged day 1 to ten years. We include clinical notes, photographs and CT images collected over 2 years in Burkina Faso. We found various aspects of facial dysmorphisms and cranial CT associated with nasofrontal cephaloceles as observed in five children; the sixth showed a complex form of mixed nasofrontal and nasoorbital defects. Other common malformations were interhemispheric cysts and agenesis of the corpus callosum. The joint description of facial dysmorphism and cranial CT features in nasofrontal cephaloceles emphasizes the importance of making the correct diagnosis in developing countries. This allows planning for reconstructive surgery, which can have a favorable impact on the family’s and society’s attitude towards these children.

Aicardi syndrome with type 2b interhemispheric cyst

Agenesis of corpus callosum is a rare malformation of the brain. In Aicardi syndrome, it is associated with retinal lacunae and infantile spasms. Once Aicardi syndrome is diagnosed, one should look for other central nervous system malformations. We report a child who presented with developmental delay, chorioretinal lacunae and infantile spasms, due to Aicardi syndrome, associated with a type 2b interhemispheric cyst diagnosed on magnetic resonance imaging.

Bilateral Parkinsonism: when to image?

A 51-year-old man presented with a 1-year history of gait imbalance and difficulties in the execution of fine movements. On examination, he had hypomimia, bilateral and symmetrical bradykinesia and rigidity...

Four Steps in Diagnosing Complete Agenesis oftheCorpus Callosum in Prenatal Life.

Among congenital brain anomalies, complete agenesis of the corpus callosum (cACC) including cases of callosal hypoplasia has a prevalence of 1.8 per 10 000 in the general population. It is also one of the most challenging brain anomalies to detect during the mid-trimester ultrasound scan. Standard axial planes do not provide enough information to make the definitive diagnosis of cACC. From our library of images and ultrasound reports, we reviewed our most recent cases of complete agenesis of the corpus callosum in the fetus at the mid-trimester scan. In our analysis we included only cases that were confirmed postnatally or by autopsy. Exams were performed between January 2010 and June 2012. All of the patients were scanned transabdominally by means of 2 D and static 3 D. From the 2 D and 3 D images we identified 4 anatomical views that consistently gave us enough information to identify cACC: axial biparietal transthalamic view (AX1); axial biparietal falx view (AX2); coronal transthalamic view (COR); mid-sagittal view (SAG). From our library 30 cases were selected with confirmed cACC postnatally or in autopsy findings. The mean gestational age at the time of referral to our center was 20.7 weeks (range 19 - 23 weeks). In all analyzed cases sufficient 2 D images were found and in 93.3 % of them informative 3 D volumes were also available for off-line review. We identified the following patterns of cACC at the mid-trimester scan: A- normal size of 3 rd ventricle + normal size of the lateral ventricles or mild ventriculomegaly; B1- dilated 3 rd ventricle + normal size of the lateral ventricles; B2- dilated 3 rd ventricle + mild or moderate ventriculomegaly; C- dilated 3 rd ventricle + severe ventriculomegaly; D- gross dilatation of 3 rd ventricle with the appearance of interhemispheric cyst. The AX1 view revealed: absence of the cavum septum pellucidi in all cases; dilatation of the third ventricle in 86.6 % of cases; separation of frontal horns in 83.3 % of cases; ventriculomegaly in 73.3 % of cases, including 13.6 % with severe forms. The AX2 view showed separation of the interhemispheric fissure (IHF) in 90 % of cases and upward displacement of the 3 rd ventricle in 80 % of cases. The COR view confirmed separation of the interhemispheric fissure in 90 % of cases including gross separation in 7.4 % of cases; absence of CC fibers at this level and descent of the falx towards the roof of the 3 rd ventricle in all cases, and upward displacement of the 3 rd ventricle in 80 % of cases. The SAG view revealed the absence of the CSP-CC complex in all cases and dilatation of the 3 rd ventricle in 86.6 % of cases. 1. We suggest a stepwise ultrasound diagnostic approach for cACC and variations of this condition. 2. We suggest a classification of characteristic patterns found in fetuses with proven cACC based on findings presented in axial views.

Nevus Comedonicus Syndrome.

A case of nevus comedonicus syndrome with atypical cutaneous presentation (widespread involvement without any particular pattern, midline lesions involving lower abdomen and involvement of bilateral pinna), and some unusual skeletal (adduction deformity involving bilateral metatarsal along with medial deviation at the level of tarsometatarsal joint), central nervous system (agenesis of corpus callosum with a interhemispheric cyst), visceral (pancreatic cyst) and neurological manifestations have been illustrated.

Left frontal convexity arachnoid cyst extending to interhemispheric fissure: case report

Convexity or interhemispheric fissure arachnoid cysts are rarely seen lesions (5%). Although they are usually asymptomatic and do not require treatment, neurological symptoms like headache and seizures should be considered for surgical approaches. We reported a 47-year-old man with severe headaches. Computed tomography revealed a cystic lesion on the left cerebral convexity extending to interhemispheric fissure. Magnetic resonance imaging revealed displacement of corpus callosum with a slight midline shift caused by an arachnoid cyst. A cystoperitoneal shunt was performed. Radiologically, the cyst was partially resolved after cystoperitoneal shunting. Arachnoid cyst can cause local ischemia that triggers symptoms via compression, which can require surgical management, but an optimal treatment method can not be determined.

An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies.

Less than 100 cases of primordial dwarfism have been reported worldwide out of which Microcephalic osteodysplastic primordial dwarfism type I comprise about <30 cases. We report a rare case of extreme growth failure in a neonate with primordial dwarfism of antenatal onset due to Microcephalic osteodysplastic primordial dwarfism type I. Our case is also unique in being associated with hitertho unreported association of subpulmonic ventricular septal defect and a dorsal interhemispheric cyst in the brain.

Gómez‐López‐hernández syndrome versus rhombencephalosynapsis spectrum: A rare co‐occurrence with bipartite parietal bone

Rhombencephalosynapsis (RES) is a rare hindbrain malformation that could occur in isolation or as a part of a syndrome for example, Gómez-López-Hernández syndrome (GLH) or VACTERL-H. We identified male patient with severe RES. Ventriculomegaly, agenesis of septum pellucidum, very thin corpus callosum with interhemispheric cyst were additional neuroimaging findings. He had brachyturricephaly, midface retrusion, low-set posteriorly rotated ears and bilateral parietal well circumscribed areas of alopecia. No corneal anesthesia was observed; thus, demonstrating many of the diagnostic criteria of GLH. Interestingly, he additionally had bilateral bipartite parietal bone (BPB) that is an extremely rare anomaly of the parietal sutures. This is the first co-occurrence of this rare anomaly with GLH. We believe the presence of this unique finding could represent an important clue for understanding the pathogenesis of this malformation.

Agenesis of the corpus callosum with interhemispheric cyst, associated with aberrant cortical sulci and without underlying cortical dysplasia

Agenesis of the corpus callosum with interhemispheric cyst, associated with aberrant cortical sulci and without underlying cortical dysplasia

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I

We describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), which was molecularly confirmed by homozygosity for the g.51G >A and g.55G >A mutations in RNU4ATAC, respectively. The patients showed the classical phenotype and demonstrated in addition variable degrees of gyration abnormalities and malformations of the callosal body with an interhemispheric cyst. One patient also showed underdevelopment of the cerebellar vermis. This confirms that cortical malformations should be considered cardinal manifestations of MOPD I. Oculocutaneous albinism, brain hemorrhage and chilblains have been found to be associated with MOPD I. The present study showed lack of retinal pigmentation in three patients of whom two had an unusually fair complexion of hair and skin. One patient was found to have a hematoma in the left thalamus. This may indicate that both pigmentary abnormalities and vascular anomalies may be part of the phenotype of MOPD I as well.

Meningomyeloselin eşlik ettiği interhemisferik araknoid kist: Olgu sunumu

Meningomyeloselin eşlik ettiği interhemisferik araknoid kist: Olgu sunumu

Asymmetric Ventriculomegaly, Interhemispheric Cyst, and Dysgenesis of the Corpus Callosum (AVID)

A series of 20 cases from 2 academic institutions is presented with a characteristic imaging triad of asymmetric ventriculomegaly, a large interhemispheric cyst, and partial or complete agenesis of the corpus callosum. Most cases were initially referred as aqueduct stenosis and hydrocephalus or focal porencephaly. We describe the imaging findings that identify an abnormal or absent corpus callosum associated with a type 1 interhemispheric cyst in fetuses initially thought to have hydrocephalus attributable to aqueductal stenosis. We suggest that the acronym AVID (asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum) may be useful in recognition of these cases. All cases presented with markedly asymmetric ventriculomegaly on initial sonography, with progressive hydrocephalus throughout gestation. Fetal magnetic resonance imaging was performed in 15 of 20 cases. Thirteen of 20 cases were identified in male fetuses. Associated fetal and postnatal abnormalities are also reported. Technological improvements in sonography and fetal magnetic resonance imaging allow improved characterization of associated intracranial anomalies in the setting of hydrocephalus. Accurate diagnosis can aid parental counseling, especially because isolated aqueductal stenosis suggests a better prognosis than hydrocephalus with anomalies. Markedly asymmetric ventriculomegaly in this series was the key to excluding isolated aqueductal stenosis and was associated with callosal malformation with a type 1a interhemispheric cyst.

Novel Mutations Including Deletions of the EntireOFD1Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

OFD1, now recognized as a ciliopathy, is characterized by malformations of the face, oral cavity and digits, and is transmitted as an X-linked condition with lethality in males. Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson-Golabi-Behmel syndrome type 2 (SGBS2). We have studied 55 sporadic and six familial cases of suspected OFD1. Comprehensive mutation analysis in OFD1 revealed mutations in 37 female patients from 30 families; 22 mutations have not been previously described including two heterozygous deletions spanning OFD1 and neighbouring genes. Analysis of clinical findings in patients with mutations revealed that oral features are the most reliable diagnostic criteria. A first, detailed evaluation of brain MRIs from seven patients with cognitive defects illustrated extensive variability with the complete brain phenotype consisting of complete agenesis of the corpus callosum, large single or multiple interhemispheric cysts, striking cortical infolding of gyri, ventriculomegaly, mild molar tooth malformation and moderate to severe cerebellar vermis hypoplasia. Although the OFD1 gene apparently escapes X-inactivation, skewed inactivation was observed in seven of 14 patients. The direction of skewing did not correlate with disease severity, reinforcing the hypothesis that additional factors contribute to the extensive intrafamilial variability.

Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome

We describe two sibs with a lethal form of profound congenital microcephaly, intrauterine and postnatal growth retardation, subtle skeletal changes, and poorly developed brain. The sibs had striking absent cranial vault with sloping of the forehead, large beaked nose, relatively large ears, and mandibular micro-retrognathia. Brain magnetic resonance imaging (MRI) revealed extremely simplified gyral pattern, large interhemispheric cyst and agenesis of corpus callosum, abnormally shaped hippocampus, and proportionately affected cerebellum and brainstem. In addition, fundus examination showed foveal hypoplasia with optic nerve atrophy. No abnormalities of the internal organs were found. This profound form of microcephaly was identified at 17 weeks gestation by ultrasound and fetal brain MRI helped in characterizing the developmental brain malformations in the second sib. Molecular analysis excluded mutations in potentially related genes such as RNU4ATAC, SLC25A19, and ASPM. These clinical and imaging findings are unlike that of any recognized severe forms of microcephaly which is believed to be a new microcephalic primordial dwarfism (MPD) with developmental brain malformations with most probably autosomal recessive inheritance based on consanguinity and similarly affected male and female sibs.

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX

Mutations in the ARX gene, at Xp22.3, cause several disorders, including infantile spasms, X-linked lissencephaly with abnormal genitalia (XLAG), callosal agenesis and isolated intellectual disability. Genotype/phenotype studies suggested that polyalanine tract expansion is associated with non-malformative phenotypes, while missense and nonsense mutations cause cerebral malformations, however, patients with structural normal brain and missense mutations have been reported. We report on a male patient born with cleft lip and palate who presented with infantile spasms and hemiplegia. MRI showed agenesis of corpus callosum (ACC), an interhemispheric cyst, periventricular nodular heterotopia (PVNH), and extensive left frontal polymicrogyria (PMG). Sequencing of the ARX gene in the patient identified a six basepair insertion (c.335ins6, exon 2). The insertion leads to a two-residue expansion of the first polyalanine tract and was described previously in a family with non-syndromic X-linked mental retardation. To our knowledge, ARX mutation causing PMG and PVNH is unique, but the spasms and ACC are common in ARX mutations. Clinicians should be aware of the broad clinical range of ARX mutations, and further studies are necessary to investigate the association with PMG and PVNH and to identify possible modifying factors.

Chudley-McCullough Syndrome: Case Report and Review of the Neuroimaging Spectrum

We report on a child with Chudley-McCullough syndrome and re-evaluate the spectrum of imaging findings (in 15 previously reported patients) which appear to be variable and, to some extent, ambiguous in the literature. Magnetic resonance imaging of the brain revealed asymmetric colpocephaly with agenesis of the splenium corporis callosi, ribbon-like subcortical gray matter heterotopia along the cingulate gyri, malrotation of both hippocampi, and dysplasia of the cerebellum. Macrocrania together with sensorineural hearing loss, colpocephaly, and posterior or complete agenesis of the corpus callosum can be considered the hallmarks of the autosomal recessive Chudley-McCullough syndrome. These may be variably associated with interhemispheric arachnoid cyst, cortical dysplasia, gray matter heterotopia, and cerebellar dysplasia. While early support with hearing aids may lead to improved language and cognitive outcome, shunting of ventricular dilatation is not indicated in the Chudley-McCullough syndrome.

Williams-Beuren syndrome: the prenatal phenotype

Using prenatal BACs-on-Beads technology, the first prenatal case of Williams-Beuren syndrome (WBS) was diagnosed. In light of this result, an ultrasound scan confirmed the presence of well-characterized features of WBS. This case report emphasizes the fact that new genomic technologies will generate prenatal information and provide helpful additional information.

Persistence of the left superior vena cava in a patient with duplication of chromosome 8p—A case report

The authors report a child born with duplication of chromosome 8p. Associated findings have included an interhemispheric cyst with hydrocephalus, persistent left superior vena cava, large secundum-type atrial septal defect, bilateral inguinal hernias, right preauricular skin tag, hypertelorism, cleft palate, cortical thumbing, syndactyly of the toes, and clinodactyly. At three years of age, the patient does not crawl, is developmentally delayed, and has a ventriculoperitoneal shunt to treat his hydrocephalus. With further reports, this case may shed light on a genetic locus related to regression of the left superior vena cava.

New ependymal cells are born postnatally in two discrete regions of the mouse brain and support ventricular enlargement in hydrocephalus

A heterogeneous population of ependymal cells lines the brain ventricles. The evidence about the origin and birth dates of these cell populations is scarce. Furthermore, the possibility that mature ependymal cells are born (ependymogenesis) or self-renewed (ependymal proliferation) postnatally is controversial. The present study was designed to investigate both phenomena in wild-type (wt) and hydrocephalic α-SNAP mutant (hyh) mice at different postnatal stages. In wt mice, proliferating cells in the ventricular zone (VZ) were only found in two distinct regions: the dorsal walls of the third ventricle and Sylvian aqueduct (SA). Most proliferating cells were monociliated and nestin+, likely corresponding to radial glial cells. Postnatal cumulative BrdU-labeling showed that most daughter cells remained in the VZ of both regions and they lost nestin-immunoreactivity. Furthermore, some labeled cells became multiciliated and GLUT-1+, indicating they were ependymal cells born postnatally. Postnatal pulse BrdU-labeling and Ki-67 immunostaining further demonstrated the presence of cycling multiciliated ependymal cells. In hydrocephalic mutants, the dorsal walls of the third ventricle and SA expanded enormously and showed neither ependymal disruption nor ventriculostomies. This phenomenon was sustained by an increased ependymogenesis. Consequently, in addition to the physical and geometrical mechanisms traditionally explaining ventricular enlargement in fetal-onset hydrocephalus, we propose that postnatal ependymogenesis could also play a role. Furthermore, as generation of new ependymal cells during postnatal stages was observed in distinct regions of the ventricular walls, such as the roof of the third ventricle, it may be a key mechanism involved in the development of human type 1 interhemispheric cysts.