A primary third ventricle mixed germ cell tumor with leptomeningeal dissemination of immature teratoma component.

A 17-year-old male patient presented to the clinic with a headache, nausea, and vomiting. Magnetic resonance imaging demonstrated a fat-containing and -enhancing heterogeneous tumor in the third ventricle, and fat droplets within the ventricles and the subarachnoid space. Obstructive hydrocephalus was also present. Emergency subtotal removal of the mass was performed via interhemispheric transcallosal approach. The histopathological diagnosis was a mixed germ cell tumor that was composed of embryonal carcinoma, yolk-sac tumor, germinoma, and immature teratoma containing a large amount of mature elements. The patient was referred for postoperative chemoradiotherapy. A mixed germ cell tumor is a rare type of nongerminomatous germ cell tumor that is made up of at least two different types of germ cell tumors. These may include germinoma, choriocarcinoma, embryonal carcinoma, yolk sac tumor, mature teratoma, immature teratoma, or teratoma with malignant degeneration. As far as we know, this is the first reported case of a primary third ventricle mixed germ cell tumor with leptomeningeal dissemination of the immature teratoma component that contains grossly visible mature elements at admission.

Is endoscopic endonasal transsphenoidal surgery increases the susceptibility to rhinosinusitis.

The aim of the study was to analyze whether the measurement of changes in the anatomical position and volume of middle concha, the volume changes in the area between the middle concha and lamina papyracea, the evaluation of opacification in major paranasal sinuses, and osteomeatal complex occlusion in cases with middle concha by out-fracture technique during endoscopic endonasal transsphenoidal approach is a minimally invasive surgery, and also to find out whether these changes lead to the development of tendency to rhinosinusitis. It was a retrospective clinical study. Forty-five cases, between 2013 and 2015, planned for endoscopic endonasal transsphenoidal surgery due to hypophyseal pathology at the Neurosurgery Departments of Marmara University Hospital were evaluated retrospectively. The patients were evaluated for the changes in the anatomy of the middle concha and the effects of these changes to paranasal sinuses by paranasal computed tomographies were studied at the preoperative second week and postoperative 12 month. The Lund-Mackay scoring system was used for the evaluation of opacification in the five major paranasal sinuses and occlusion of the osteomeatal complex in the pre- and postoperative period. The Lund-Mackay scoring system was used to analyze the paranasal computed tomography of the patients at the preoperative 2 weeks and postoperative first year. According to the Lund-Mackay scoring system, no significant difference was detected between the preoperative and postoperative opacification of paranasal sinuses (p > 0.05). Besides, there was also no significant difference between the preoperative and postoperative osteomeatal complex occlusion (p > 0.05). Considering the distance between middle concha and lamina papyracea following the out-fracture of the middle concha, a significant lateralization of 0.5 mm between the preoperative and postoperative period was observed (p < 0.05). In addition, a significant change was also detected in the volume of middle concha (p < 0.05). The volume of the area between the middle concha and lamina papyracea was decreased with a statistical significance (p < 0.05). The endoscopic endonasal transsphenoidal surgery causes some variations in the structures of the middle concha, paranasal sinuses, and OMC, but these changes do not lead to significant rhinologic pathologies.

Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.

We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and whole-exome sequencing analysis. Three patients from the same family shared common features of progressive complicated spastic paraplegia. They shared a single homozygous stretch area on chromosome 6. Whole-exome sequencing revealed a homozygous mutation (c.853_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). Meanwhile, the unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type. The 19 bp deletion in exon 6 generates a stop codon and thus a truncated messenger RNA and protein. The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.

Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31.

PURPOSE: Meningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect. METHODS: We identified a neural tube defect family in eastern Turkey, where two of six offspring had operations due to thoracolumbar meningomyelocele. The parents were of a consanguineous marriage. We collected venous blood from six offspring of the family. Whole genome linkage analysis was performed in all offspring. RESULTS: A theoretical maximum logarithm of an odds score of 3.16 was identified on chromosome 9q21.12-21.31. This result shows a strong genetic linkage to this locus. CONCLUSIONS: Our results identified a novel chromosomal locus related to meningomyelocele and provide a base for further investigations toward the discovery of a new causative gene.

Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene.

Pantothenate kinase-associated neurodegeneration (PKAN) syndrome is an autosomal-recessive neurodegenerative disease that causes progressive generalized dystonia. Currently, the disorder remains pharmacologically intractable. Herein we report the first case in which deep brain stimulation helped to relieve dystonic storm in a patient with PKAN syndrome who had homozygous c.628 2 T > G mutation of the PANK2 gene. A 10-year-old boy with PKAN disease presented with dystonic storm and was admitted to the emergency department. Examination revealed generalized dystonia and impaired breathing due to involvement of the respiratory muscles. The patient underwent surgery for bilateral globus pallidus internus deep brain stimulation. The patient showed marked response to treatment.

The Supraorbital Keyhole Approach.

AIM: The major aim of the present anatomical study was to demonstrate the anatomical structures that can be visualized using the supraorbital keyhole approach, both endoscopically and microscopically, from an eyebrow incision to intracranial structures. Furthermore, it defines an optimal craniotomy for surgery. METHODS: Fine dissection was performed on each side of 5 formalin-fixed adult cadavers according to the surgical procedures of the supraorbital keyhole approach, and each step was documented both endoscopically and microscopically. Furthermore, the distance between the superior temporal line and the supraorbital notch/foramen was measured from the 10 total sides of the 5 cadavers and from the 118 sides of the 59 autopsies. RESULTS: Tumors and aneurysms of the anterior cranial fossa can be visualized during the supraorbital keyhole approach. The average distance between the superior temporal line and the supraorbital notch/foramen was measured. The distance obtained from the autopsies on the 25 females was 31.56 ±â€Š4.03  mm on the right side and 31.04 ±â€Š5.40  mm on the left side. The average distance obtained from the autopsies on the 34 males was 34.00 ±â€Š4.59  mm on the right side and 33.59 ±â€Š5.41  mm on the left side. There was no statistically significant difference between right and left in the female and male autopsies or between sexes. CONCLUSIONS: This anatomical study showed that structures in the anterior and middle cranial fossa can be reached via the supraorbital keyhole craniotomy approach with minimal brain retraction and adequate exposure and with minimal craniotomy size.

A sine-wave-shaped skin incision for inserting deep-brain stimulators.

BACKGROUND: The sine-wave-shaped skin incision is a technique that minimizes skin-related complications near burr hole caps after electrode placement for deep-brain stimulation (DBS). METHODS: Between 2011 and 2013, 54 DBS electrodes were implanted in 27 consecutive patients with Parkinson's disease (PD), essential tremor, or dystonia. The sine-wave incision was used in 26 patients and conventional bilateral linear scalp incisions were used in one patient. RESULTS: None of the patients whose operations involved sine-wave-shaped incisions developed hardware-linked complications such as skin infection or skin erosion. The one patient who underwent conventional bilateral linear scalp incisions developed a skin infection. CONCLUSION: By preserving the vascular anatomy of the scalp and reducing skin tension at the wound site, the sine-wave-shaped incision promotes wound healing.

The Impact of Subthalamic Deep Brain Stimulation on Apathy in Parkinson's Disease Patients.

AIM: To investigate the impact of subthalamic deep brain stimulation (STN DBS) on apathy and the possible relationship between apathy, depression, and levodopa equivalent dosage (LED) in Parkinson's Disease (PD) patients. MATERIAL AND METHODS: A total of 26 patients have been evaluated via the Unified Parkinson Disease Rating Scale (UPDRS), Beck Depression Inventory (Beck D), and Beck Anxiety Inventory (Beck A), Montreal Cognitive Assessment (MoCA), Parkinson Disease Questionnaire (PDQ-39) just before and 6 months after DBS. RESULTS: Apathy scores (AES) showed a slight decrease from 54.00 ± 10.30 to 52.69 ± 8.88 without any statistical significance (p=0.502) after DBS therapy. No correlation was detected between the post-treatment changes in apathy and UPDRS scores, Beck D, Beck A. Although the direction of the correlation between changes in AES scores and LED values was negative, the results did not reach statistical significance. CONCLUSION: STN DBS therapy does not have a negative effect on apathy in PD Patients. Despite the satisfactory motor improvement, conservative dopaminergic dose reduction after surgery seems to be the main point to prevent apathy increase in PD patients after STN DBS.

Falcine venous plexus within the falx cerebri: anatomical and scanning electron microscopic findings and clinical significance.

BACKGROUND: Only limited attention has been paid to the anatomy and clinical importance of the falcine venous plexus. The aim of this study was to evaluate the falcine venous plexus anatomically using scanning electron microscopy (SEM), and to provide guidance for neurosurgical approaches. METHODS: Latex or ink was injected into the superior and inferior sagittal sinus. The falcine venous plexus lying within the connective tissue of the falx cerebri was observed by dividing the falx into thirds (anterior, middle and posterior). Further, the SEM appearance of the falcine venous plexus was evaluated. RESULTS: The anterior third of the falx cerebri consisted of small diameter falcine venous vessels. These vessels were localized close to either the superior or inferior sagittal sinus, and none extended as far as mid-falx cerebri levels in any of the 16 cases. They communicated with either superior or inferior sagittal sinuses, but not with both of these sinuses. In the middle third of the falx cerebri, the majority of the vessels of the falcine venous plexus had larger diameter compared to those of the anterior third. These vessels extended the length of the falx cerebri levels. They communicated with both superior and inferior sagittal sinuses. In the posterior third of the falx cerebri, the vessels of the falcine venous plexuses had the largest diameter and were located at the junction of the inferior sagittal sinus and the straight sinus. They were localized at the lower two-thirds of the falx cerebri. In all cases, the dense venous networks communicated with the inferior sagittal sinus but not with the superior sagittal sinus. The falcine venous plexus observed in the posterior third of the falx cerebri was denser than in the anterior and middle portions. The SEM revealed small vessels whose diameter ranged between 42 and 138 µm. The vessels of the falcine venous plexus in the anterior third had a mean diameter of 0.42 ± 0.1 mm, in the middle third a mean diameter of 0.87 ± 0.17 mm, and in the posterior third, 1.38 ± 0.21 mm. CONCLUSION: The falcine venous plexus is a network of venous channels that exists within the connective tissue of the falx; the sizes and patterns of communication of these structures showed regional differences. Neurosurgeons should be aware of the regional differences when making an incision or puncturing the falx during a surgical approach.

Laboratory training in the retrosigmoid approach using cadaveric silicone injected cow brain.

BACKGROUND: A neurosurgical laboratory training model is designed for trainees in microneurosurgery to learn to handle surgical microscopes and microneurosurgical instruments. The silicone injection of a fresh cadaveric cow cranium is an alternative to using a cadaveric human brain for becoming familiar with the cerebellopontine angle (CPA) via the retrosigmoid approach. To report an improved method for training in the CPA via the retrosigmoid approach, using a fresh cadaveric cow cranium injected with silicone. METHODS: The material consists of a cadaveric cow brain injected with silicone. Preparation consists of irrigation of the major vessels followed by injection of silicone, coloured either red or blue. RESULTS: A three-step approach was designed to simulate microneurosurgical dissection along with the cerebellopontine angle and to dissect cranial nerves emerging from the brain stem. CONCLUSION: This laboratory training model is useful in allowing trainees to gain experience with the use of an operating microscope and familiarity with the CPA via the retrosigmoid approach. The aim of this study was to develop a novel model and to adapt it to create a life-like neurosurgical training system.

Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature.

INTRODUCTION: Thyrotropin-producing pituitary adenoma (TSHoma) is a very rare disease, representing less than 1% of the pituitary tumours and presenting with elevated thyroid hormones and normal/high TSH concentrations. CASE PRESENTATION: A 7-year-old boy with nervousness was referred by his psychiatrist for elevated free T4, T3, and TSH levels. Initial evaluation revealed an elevated α-subunit. Pituitary magnetic resonance imaging (MRI) demonstrated a macroadenoma. The patient underwent a trans-sphenoidal tumour resection (TSS) which showed positive immunohistochemical staining for TSH, growth hormone, and prolactin in tumoral tissue. Euthyroidism was achieved for 1 year after TSS, then recurrence of tumour with elevated TSH and thyroid hormone levels necessitated a re-operation with TSS followed by gamma-knife radiosurgery. The euthyroid state was achieved and lasted for 2.5 years this time, but due to the recurrence, medical treatment had been commenced with cabergoline and octreotide. Euthyroidism was maintained for the last 4 years on monthly octreotide treatment. A repeat MRI demonstrated no pituitary mass, but a mass in the sphenoidal sinus had been detected. Removal of this mass by surgery did not achieve euthyroidism. 68Ga-DOTA-TATE positron emission tomography/computed tomography showed residual tissue extending from the pituitary region to the sphenoid sinus. The patient's bone age was advanced by 2 years at diagnosis which became 4 years in 1 year after the diagnosis and remained so throughout follow-up, leading to a final height of -3.3 SDS below his target height at the age of 16 years. CONCLUSION: The diagnosis, treatment, and follow-up of TSHomas are challenging, and short stature due to accelerated bone maturation is a complication of paediatric TSHomas.

The denticulate ligament: anatomical properties, functional and clinical significance.

BACKGROUND: It is widely believed that the main function of denticulate ligaments (DLs) is to stabilize the spinal cord within the vertebral canal. The aim of this study was to assess the anatomical and histological structure of the DLs and to document any regional differences. METHODS: Five formalin-fixed adult cadavers were used. The DLs were exposed via the posterior approach, and detailed anatomy and histology of these structures were documented. RESULTS: The main findings were: (1) each DL is composed of a single narrow fibrous strip that extends from the craniovertebral junction to T12, and each also features 18-20 triangular extensions that attach to the dura at their apices; (2) the triangular extensions are smaller and more numerous at the cervical levels, and are larger and less numerous at the thoracic levels; (3) the apices of the extensions attach to the dura via fibrous bands at cervical levels (each band 3-5 mm long) and lower thoracic levels (21-26 mm long), whereas they attach directly to the dura at upper thoracic levels; (4) the narrow fibrous strip of the DL features longitudinally oriented collagen fibers, whereas the triangular extensions are composed of transverse and obliquely oriented collagen fibers. The collagen fibers are thicker and more abundant at the cervical than at the thoracic levels. CONCLUSION: DL histology and anatomy are strongly correlated with the function of this structure at different spinal levels. It is important to have accurate knowledge about DLs as these structures are relevant for clinical procedures that involve the spinal cord or craniovertebral junction.

Assessment of the Effect of Subthalamic Deep Brain Stimulation on Sleep Quality of Parkinson's Disease Patients.

AIM: To investigate the effects of subthalamic deep brain stimulation (STN DBS) therapy on sleep quality of Parkinson?s Disease (PD) patients and the relationship between sleep, motor symptoms, depression, and adverse effects of dopamine replacement therapies. MATERIAL AND METHODS: A total of 26 PD patients have been included and assessed using various tools both 1 week before and 8 months after the STN DBS therapy. The data collection tools were the Unified Parkinson?s Disease Rating Scale (UPDRS), Beck Depression Inventory (BDI), Montreal Cognitive Assessment (MoCA), Parkinson?s Disease Questionnaire (PDQ-39), Pittsburgh Sleep Quality Index (PSQI), Insomnia Severity Index (ISI), Epworth Sleepiness Scale (ESS) and Polysomnography. RESULTS: PSQI, ISI, and ESS scores were found to have significantly improved after the STN DBS therapy (p=0.002, p=0.006, p < 0.001, respectively), as were the scores obtained from several PSQI sub-scales, that is, sleep duration, sleep disturbance and daytime dysfunction (p=0.023, p=0.005, p=0.032, respectively). Additionally, Wake Times After Sleep Onset (WASO) (p=0.047) and Rapid Eye Movement (REM) sleep latency values (p=0.005) were found to have decreased after the STN DBS treatment, whereas REM sleep durations (p=0,028) and REM sleep percentages (p=0.007) were found to have increased, after the STN DBS therapy. No correlation was found between the ESS scores and Levodopa Equivalent Dosage (LED) or between the scores obtained from the sleep scales and the scores obtained from the UPDRS and BDI. There was also no correlation between sleep scores and other PD-related factors. CONCLUSION: The findings of this study indicated that STN DBS therapy positively affected the PD patients? sleep. This result was attributed to the neuromodulatory effects of the STN DBS independent of the motor symptoms, depression levels, and LED decrease.

Gamma knife radiosurgery for cranial neurocytomas.

Gamma-knife surgery may be an effective alternative for treatment of central neurocytomas owing to its relative safety compared with conventional radiotherapy. In this paper we present results of gamma-knife treatment (GKS) of residual or recurrent neurocytomas. Twenty-two patients (14 female, 8 male) with recurrent or residual neurocytomas who underwent GKS were included. Diagnosis was based on histological findings. The proliferative potential of the tumors was examined by immunostaining with MIB-1 antibody, which is specific for detection of Ki-67 antigen. Tumor volume was determined by using post-gadolinium magnetic resonance images. After GKS treatment, MR imaging was scheduled at three-month intervals in the first year, at six months intervals in the second year, and yearly thereafter. Histopathological diagnoses were: 18 cases of central neurocytomas, two liponeurocytomas, one cerebral neurocytoma and one cerebellar neurocytoma. The MIB1 labeling index (LI) varied from 0 to 5.7%. Marked reduction in tumor volume was seen in 15 patients. In six patients, the tumor volume remained unchanged, and progression was observed for one patient. No complications because of GKS were noted. Shrinking effect on tumor volume increased with increasing duration of follow-up. On the other hand, high MIB labeling index did not seem to have an effect on tumor response to GKS treatment. Findings of this study suggest that GKS is an effective and safe treatment alternative for residual or recurrent neurocytomas. However, its effectiveness should be confirmed with larger studies.

Asystole due to trigemino-cardiac reflex: a rare complication of trans-sphenoidal surgery for pituitary adenoma.

The trigemino-cardiac reflex (TCR) is a well-known reflexive response in which bradycardia, hypotension, and gastric hypermotility are induced by stimulation of a peripheral or central portion of the trigeminal nerve. This reflex occurs during craniofacial surgery and other operations on or near the cerebellopontine angle, petrosal sinus, orbit and trigeminal ganglion. TCR is a well-known, although not well documented, phenomenon commonly observed during trans-sphenoidal surgery for resection of pituitary adenomas. We report a case in which asystole occurred during trans-sphenoidal surgery on a pituitary adenoma that was infiltrating the right cavernous sinus. When the anesthesiologist reported asystole, the team stopped manipulation and administered intravenous atropine. Intra-operative MRI showed a small tumour remnant in the right cavernous sinus. The operation was terminated but subsequent radiosurgery was planned for the residual tumor. Although TCR is rare and usually self-limiting, this case led us to change our treatment strategy. Surgeons who perform trans-sphenoidal surgery should be aware of this potential problem. Invasive pituitary adenomas should be removed gently and the risk of triggering TCR should be kept in mind.

Anterior third ventricular height and infundibulochiasmatic angle: two novel measurements to predict clinical success of endoscopic third ventriculostomy in the early postoperative period.

OBJECTIVE: The authors sought to develop a set of parameters that reliably predict the clinical success of endoscopic third ventriculostomy (ETV) when assessed before and after the operation, and to establish a plan for MRI follow-up after this procedure. METHODS: This retrospective study involved 77 patients who had undergone 78 ETV procedures for obstructive hydrocephalus between 2010 and 2015. Constructive interference in steady-state (CISS) MRI evaluations before and after ETV were reviewed, and 4 parameters were measured. Two well-known standard parameters, fronto-occipital horn ratio (FOHR) and third ventricular index (TVI), and 2 newly defined parameters, infundibulochiasmatic (IC) angle and anterior third ventricular height (TVH), were measured in this study. Associations between preoperative measurements of and postoperative changes in the 4 variables and the clinical success of ETV were analyzed. RESULTS: Of the 78 ETV procedures, 70 (89.7%) were successful and 8 (10.3%) failed. On the preoperative MR images, the mean IC angle and anterior TVH were significantly larger in the successful procedures. On the 24-hour postoperative MR images of the successful procedures, the mean IC angle declined significantly from 114.2° to 94.6° (p < 0.05) and the mean anterior TVH declined significantly from 15 to 11.2 mm (p < 0.05). The mean percentage reduction of the IC angle was 17.1%, and that of the anterior TVH was 25.5% (both p < 0.05). On the 1-month MR images of the successful procedures, the mean IC angle declined significantly from 94.6° to 84.2° (p < 0.05) and the mean anterior TVH declined significantly from 11.2 to 9.3 mm (p < 0.05). The mean percentage reductions in IC angle (11%) and anterior TVH (16.9%) remained significant at this time point but were smaller than those observed at 24 hours. The 6-month and 1-year postoperative MR images of the successful group showed no significant changes in mean IC angle or mean anterior TVH. Regarding the unsuccessful procedures, there were no significant changes observed in IC angle or anterior TVH at any of the time points studied. Reduction of IC angle and reduction of anterior TVH on 24-hour postoperative MR images were significantly associated with successful ETV. However, no clinically significant association was found between FOHR, TVI, and ETV success. CONCLUSIONS: Assessing the IC angle and anterior TVH on preoperative and 24-hour postoperative MR images is useful for predicting the clinical success of ETV. These 2 measurements could also be valuable as radiological follow-up parameters.

In vivo effect of pregnancy on angiogenesis potential of arteriovenous malformation tissue samples: an experimental study.

BACKGROUND: Increased angiogenic potential of cerebrovascular malformations during pregnancy may help to explain the complications of arteriovenous malformations (AVMs) in this group of patients. This experimental study investigated the effect of pregnancy on angiogenic activity of implanted AVM tissue samples. METHODS: A subject group of 10 pregnant rats and 10 non-pregnant rats as controls were used. Surgical AVM resection samples were implanted into the micropocket created in both eyes of each animal. Vascular development was assessed by vessel count throughout the study period. In addition, immunohistochemical studies were done for vascular endothelial growth factor (VEGF), platelet derived growth factor (PDGF), and their receptors (VEGFR, PDGFR). RESULTS: Statistically significant increase in the number of vessels was found in both groups (P<0.0001); however, the increase in the pregnant group was greater (P=0.0032). The difference between the two groups was evident at the 25th day of the experiment. Despite both groups showed increased level, there was no difference with the level of VEGF, VEGF receptor, PDGF, or PDGF receptor (P>0.05 for all comparisons). CONCLUSIONS: Findings of this study suggest that angiogenic activity of AVM tissues may increase during late pregnancy, hence physicians should inform pregnant patients with AVM of the potential risk.

CCM2 expression parallels that of CCM1.

BACKGROUND AND PURPOSE: Mutations in CCM2 (MGC4607 or malcavernin) cause familial cerebral cavernous malformation (CCM), an autosomal dominant neurovascular disease. Both the function of this molecule and the pathogenesis of the disease remain elusive. METHODS: We analyzed the mRNA expression of Ccm1 and Ccm2 in the embryonic and postnatal mouse brain by in situ hybridization. Subsequently, we generated CCM2-specific polyclonal antibodies and tested their specificity using transient transfection experiments in various cell lines. We then investigated CCM2 protein expression in cerebral and extracerebral tissues by Western blot analysis as well as immunohistochemistry and compared these results with CCM1 (KRIT1) protein expression. RESULTS: In situ analysis shows similar temporal and spatial expression patterns for Ccm1 and Ccm2, although Ccm1 expression appears more widespread. Immunohistochemical analysis shows that CCM2 is expressed in various human organs, most noticeably in the arterial vascular endothelium. As is the case with CCM1, CCM2 is not expressed in other vascular wall elements such as smooth muscle cells or the venous circulation. Within cerebral tissue, it is also expressed in pyramidal neurons, astrocytes, and their foot processes. In extracerebral tissues, CCM2 is present in various epithelial cells necessary for blood-organ barrier formation. CONCLUSIONS: CCM1 and CCM2 have similar expression patterns during development and postnatally thereafter. Given the fact that the disease phenotypes caused by mutations in either gene are clinically and pathologically indistinguishable, the significant overlap in expression pattern supports the hypothesis that both molecules are involved in the same pathway important for central nervous system vascular development.

Congenital glioblastoma multiforme. Case report and review of the literature.

Congenital intracranial tumors are rare. If such a lesion is detected before birth, it is usually an incidental finding on fetal ultrasonography. The definition of a "congenital" tumor is controversial. The authors report the case of a "definite" congenital glioblastoma multiforme (GBM) diagnosed with the aid of ultrasonography and fetal magnetic resonance (MR) imaging in the 37th week of gestation. Postnatal MR imaging revealed a massive tumor occupying the patient's left temporoparietooccipital area. Angiography was performed to assess vascularity and embolize the main feeding arteries. Surgery was performed, and the tumor was successfully excised completely. The histopathological diagnosis of the tumor was GBM. An examination of the tumor cells revealed no p53 accumulation, a high MIB-1 index (87.5%), and no staining for epidermal growth factor receptor (EGFR). Adjuvant chemotherapy was administered, and the patient is doing well at 23 months of age. Congenital GBM should be considered in the differential diagnosis in cases in which a fetal ultrasonography study or fetal MR image reveals a tumor, especially in the presence of intratumoral hemorrhage. Radical tumor removal, administration of adjuvant therapy, and biological findings (such as a lack of the overexpression of p53 and EGFR in the tumor cells) all point to a longer survival time.

Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations.

BACKGROUND AND PURPOSE: Pathogenesis of cerebral venous malformation (CVM) is unknown. Because of coexistence of CVM and cerebral cavernous malformations (CCM), some studies have suggested that these 2 entities share a common origin and pathogenetic mechanism. METHODS: We have identified and ascertained over 200 families with CCM. Among these, 1 unique family was found to have members affected by both disorders. We have performed mutational analysis in all 3 CCM genes, KRIT1, Malcavernin, and PDCD10, to identify the causative gene in the family. RESULTS: Mutational analysis revealed a frameshift mutation affecting exon 19 of the CCM1 gene (KRIT1) in members with CCM, whereas no such mutation was observed in the member with CVM. CONCLUSIONS: These findings support the hypothesis that CVM and CCM are 2 distinct entities with different pathogenetic mechanisms. This data further supports the hypothesis that CVM has a distinct biology and clinical behavior when compared to CCM. CVM is a benign developmental anomaly and should be managed separately from CCM.