Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor.

We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2-year-old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemotherapy and radiotherapy. At the age of 11 years, a renal tumor was found and nephrectomy was performed.

Histological and genetic analysis of anaplastic pleomorphic xanthoastrocytoma suspected of malignant progression over a 12-year clinical course.

We report a case of anaplastic PXA for which histological study and molecular analysis were performed at the time of the first resection and two recurrences. A 15-year-old girl had a temporal lobe tumor that had been followed as a cystic lesion from three years of age without histopathological examination. The first and second surgical specimens exhibited typical histological features of PXA such as nuclear and cytoplasmic pleomorphism.

A long-term survivor of pediatric midline glioma with H3F3A K27M and BRAF V600E double mutations.

We report a case of 2-year-old female with lateral ventricular glioma harboring both H3F3A K27M and BRAF V600E mutations. By the methylation analysis, the tumor was classified as a diffuse midline glioma H3 K27M mutant, WHO grade IV. However, the tumor was pathologically low-grade and likely localized rather than diffusely infiltrating.

Successful treatment of metastatic cerebral recurrence of pleuropulmonary blastoma.

Pleuropulmonary blastoma (PPB) is a rare pediatric tumor. The central nervous system (CNS) is the most common site of extrathoracic metastasis. The prognosis of PPB patients with CNS metastases is dismal: most patients die within one year after recurrence.

Significance of molecular classification of ependymomas: C11orf95-RELA fusion-negative supratentorial ependymomas are a heterogeneous group of tumors.

Extensive molecular analyses of ependymal tumors have revealed that supratentorial and posterior fossa ependymomas have distinct molecular profiles and are likely to be different diseases. The presence of C11orf95-RELA fusion genes in a subset of supratentorial ependymomas (ST-EPN) indicated the existence of molecular subgroups. However, the pathogenesis of RELA fusion-negative ependymomas remains elusive.

Anatomic Understanding of Posterior Quadrant Disconnection from Cadaveric Brain, 3D Reconstruction and Simulation Model, and Intraoperative Photographs.

Background: Posterior quadrant disconnection is a surgery for refractory unilateral temporoparieto-occipital epilepsy to limit propagation of epileptic discharges. As incomplete disconnection can lead to residual seizures, detailed procedures are presented using a cadaveric brain, three-dimensional (3D) reconstruction and simulation models, and intraoperative photographs.

Methods: A formalin-fixed adult cadaveric brain was dissected to show each step in posterior quadrant disconnection.

Efficacy and safety of everolimus in patients younger than 12 months with congenital subependymal giant cell astrocytoma.

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder that activates mammalian target of rapamycin and produces tumor growth in several organs. We present five patients younger than 12 months who were diagnosed with TSC and treated with everolimus (EVL), after which congenital subependymal giant astrocytoma (cSEGA) promptly regressed in all patients. All patients achieved at least 50% reduction in the volume of cSEGA within 6 months.

Physiological Changes and Clinical Implications of Syndromic Craniosynostosis.

Syndromic craniosynostosis has severe cranial stenosis and deformity, combined with hypoplastic maxillary bone and other developmental skeletal lesions. Among these various lesions, upper air way obstruction by hypoplastic maxillary bone could be the first life-threatening condition after birth. Aggressive cranial vault expansion for severely deformed cranial vaults due to multiple synostoses is necessary even in infancy, to normalize the intracranial pressure.

Spinal arteriovenous metameric syndrome in a neonate presenting with congestive heart failure: case report.

Background: Spinal arteriovenous metameric syndrome (SAMS) is a combination of more than two separate vascular malformations in the same embryonic metameres. This syndrome, also known as Cobb syndrome, is rare, especially in the neonate.

Case Description: A neonatal girl with a birthmark in the occipital and posterior nuchal regions presented with severe heart failure on the day of birth.

Cranial distraction osteogenesis for syndromic craniosynostosis: long-term follow-up and effect on postoperative cranial growth.

Background: Although cranial distraction osteogenesis (CDO) is beneficial, few studies have reported on detailed operative procedures and postoperative cranial growth. Herein, we demonstrated the objective effectiveness of CDO in younger infants.

Methods: The study included infants who underwent primary cranial distraction for craniosynostosis.

[Spontaneous cerebrospinal fluid rhinorrhea associated with long-standing overt ventriculomegaly in adults (LOVA)].

Objective: Spontaneous cerebrospinal fluid rhinorrhea associated with aqueductal stenosis is rare. CSF diversion is reported to be a failure in the majority of cases. The combination of the repair of the skull base and CSF diversion is reported to be successful.

[Experience in the treatment for intracranial arteriovenous shunts in children].

Purpose: To report our experiences in the treatment for intracranial arteriovenous shunts (AV shunts) in the pediatric population.

Material And Methods: Twelve children with intracranial AV shunts were treated with endovascular embolization between December 1993 and March 2008. These comprised two cases of vein of Galen aneurysmal malformation, three of dural sinus malformation, two of infantile dural AV shunt, five of pial AV fistula including two of vein of Galen aneurysmal dilatation.

Percutaneous angioplasty of a chronic total occlusion of the intracranial internal carotid artery. Case report.

Background: A CTO of the intracranial ICA is usually managed medically and rarely by EC-IC bypass in selected patients. Percutaneous transluminal angioplasty has not been used.

Case Description: A 73-year-old man presented with frequent temporary blindness of the left eye and dizziness due to thrombotic occlusion of the left intracranial ICA, causing hemodynamic compromise.

Acute basilar artery dissection treated by emergency stenting in a 13-year-old boy.

We report a 13-year-old boy who presented with acute basilar artery occlusion due to traumatic arterial dissection. Because a grave prognosis was expected if left untreated, and the chance of neurological recovery was believed to be unlikely but not zero, given that emergency stenting for the dissection was performed within 6 h of ictus. Recanalization of the basilar artery with stent placement did not change the poor prognosis in this patient because there was extension of dissection into the posterior cerebral arteries.

[The usefulness of adjuvant therapy using gamma knife radiosurgery for the recurrent or residual nonfunctioning pituitary adenomas].

We evaluated the treatment results of nonfunctioning pituitary adenomas in the era of radiosurgery. Between January 1994 and December 2003, we operated on 44 patients with nonfunctioning pituitary adenomas. 43 patients were operated on by transsphenoidal surgery and one patient was operated on by the transcranial approach.

Regrowth and fatal rerupture despite proximal occlusion after coil embolization of a ruptured large basilar bifurcation aneurysm--case report.

A 40-year-old man suffered chronic progressive symptoms of brainstem compression after undergoing endosaccular coil placement in a ruptured large basilar bifurcation aneurysm. Radiographical examinations showed coil compaction and regrowth of the aneurysmal mass with perifocal mesencephalic edema. The symptoms did not resolve even after additional clip occlusion of the upper basilar artery and the patient died of rerupture.

Endovascular treatment of dural sinus malformation with arteriovenous shunt in a low birth weight neonate--case report.

A boy was born at 36 weeks gestation weighing 2,135 g, with a prenatal diagnosis of dural sinus malformation with arteriovenous shunts. Congestive heart failure and anuria at birth prompted emergency intervention. Transfemoral-transvenous coil embolization was performed on day 1, resulting in partial occlusion of the huge venous pouch with a total length of 2,355 cm of detachable coils.

A brainstem cavernoma demonstrating a dramatic, spontaneous decrease in size during follow-up: case report and review of the literature.

Background: Many reports have demonstrated a worse prognosis for patients whose cavernomas were subtotally removed than for those whose cavernomas were not surgically treated. Therefore, it is better not to touch the cavernoma if a surgeon is not prepared to totally remove it. This report describes a large brainstem cavernoma showing a spontaneous, dramatic reduction in size after removal of only the biopsy specimen of the lesion.

Radiosurgery for pituitary metastases.

Gamma knife radiosurgery (GKS) was used to treat seven patients with pituitary metastases between November 1994 and February 2003. The diagnoses were based on magnetic resonance imaging and clinical symptoms in six patients and by previous surgery in one patient. The cancer originated in the lung in five patients, and in the breast in two patients.

[The treatment for asymptomatic meningiomas in the era of radiosurgery].

We evaluated the treatment results in asymptomatic meningiomas in the era of radiosurgery. We encountered 56 patients with asymptomatic meningiomas from January, 1994 to December, 2001. There were 16 male patients and 40 female patients.

Acute angle-closure glaucoma after successful embolization of traumatic carotid-cavernous sinus fistula--case report.

A 69-year-old woman developed acute angle-closure glaucoma 2 weeks after successful transvenous coil embolization of a traumatic carotid-cavernous sinus fistula. The angle-closure glaucoma was precipitated by oculomotor palsy caused by transvenous coil packing of the cavernous sinus. Emergency iridotomy resulted in normalization of the intraocular pressure and restoration of vision.