Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?

Familial cerebral cavernous malformation syndromes are most commonly caused by mutations in one of three genes. The overlap of these genetic malformations with other acquired neoplastic lesions and congenital malformations is still under investigation. To the best of our knowledge, the concurrent occurrence of familial cavernous malformations and ependymoma has not been previously reported in the literature. Herein, we describe a patient with familial cerebral cavernous malformation syndrome and posterior fossa ependymoma. A 17-year-old asymptomatic male was referred to our outpatient neurosurgery clinic after genetic testing identified a familial KRIT1 (CCM1) mutation. The patient's sister had presented with a seizure disorder previously; multiple cavernous malformations were discovered, and a symptomatic large cavernous malformation required a craniotomy for resection. Two years later, she was diagnosed with follicular thyroid cancer due to HRAS (c.182A>G) mutation. The patient and his sister were found to have a novel germline KRIT1 disease-causing variant (c.1739deletion, p.ASN580Ilefs*2) and a variant of uncertain significance, potentially pathogenic (c.1988 A>G, p.Asn663Ser) in cis in CCM1 (KRIT1), of paternal inheritance. Due to the presence of genetic abnormalities, the patient underwent screening imaging of his neuraxis. Multiple cavernous malformations were identified, as was an incidental fourth ventricular mass. Resection of the fourth ventricular lesion was performed, and histopathological examination was consistent with ependymoma. We report a unique case of posterior fossa ependymoma in an individual with a familial cerebral cavernous malformation syndrome and a novel genetic abnormality in KRIT1. The association of these two findings may be valuable in determining a potential genetic association between the two pathologies and elucidating the pathogenesis of both cavernous malformations and ependymomas.

Natural history of intraventricular meningiomas: systematic review.

Review the data published on the subject to create a more comprehensive natural history of intraventricular meningiomas (IVMs). A Medline search up to March 2018 using "intraventricular meningioma" returned 98 papers. As a first selection step, we adopted the following inclusion criteria: series and case reports about IVMs, as well as papers written in other languages, but abstracts written in English were evaluated. Six hundred eighty-one tumors were evaluated from 98 papers. The majority of the tumors were located in the lateral ventricles (602-88.4%), fourth ventricle (59-8.7%), and third ventricle (20-2.9%). These tumors accounted for a mortality rate of 4.0% (25 deaths) and a recurrence rate of 5.3% (26 recurrences). The majority of the tumors were grade I (89.8%) and consisted of the following subtypes: fibrous, 39.7% (n = 171); transitional, 22.0% (n = 95); meningothelial, 18.6% (n = 80); angiomatosus, 3.2% (n = 14); psammomatous, 2.6% (n = 11); and others, 13.9% (n = 60). Forty-five patients (7.4%) presented with grade II (GII) tumors, and 17 patients (2.8%) presented with grade III (GIII) tumors. These tumors follow the histopathological distribution of meningiomas in general, with the exception of the higher prevalence of the fibrous subtype, possibly due to its embryonic origin. Recurrence and mortality were lower than in other localizations likely due to a complete surgical resection rate than in the convexity and skull base, which suggests that GTR is the gold standard for the management of IVMs.

Intraventricular pleomorphic xanthoastrocytoma: a case report.

Pleomorphic xanthoastrocytoma (PXA), an uncommon glial neoplasm, typically affects adolescents and young adults and accounts for less than 1% of all astrocytic neoplasms. The authors present a case of PXA located entirely in the third ventricle in a 24-year-old male patient. The patient presented with a 6-month history of headaches, progressive decline in cognitive function and profound behavioral disturbances. He was admitted to the hospital with signs of increased intracranial pressure. Magnetic resonance imaging showed a well-enhanced solid tumor, located entirely inside the third ventricle. The tumor was totally removed via a right fronto-pterional trans-lamina terminalis approach and neuropathology report confirmed PXA diagnosis. No further treatment was indicated. To the best of our knowledge, this is the first case report of a solid PXA confined to the third ventricle.

Cytologic features during intraoperative assessment of central neurocytoma: a report of three cases and review of the literature.

BACKGROUND: Central neurocytomas (CNs) are infrequent intraventricular tumors with features of neuronal differentiation that affect young adults and have an excellent prognosis after total resection. The main differential intraoperative diagnoses are oligodendrogliomas, ependymomas and non-Hodgkin's lymphomas; therefore, an accurate and precise intraoperative diagnosis is essential, making the cytologic features the hallmark for cytopathologists, surgical pathologists and neurosurgeons alike. Seven previous reports have described 18 cases of CNs and have addressed the cytodiagnostic criteria during intraoperative assessment in the English medical literature. CASES: Three patients (23 years old/male, 29 years old/female and 28 years old/male) were evaluated during intraoperative assessment as CNs. They showed intraventricular tumors that measured 6.5, 3.5 and 6.6 cm, respectively. The cytologic features common in these cases were: (1) monotonous or isomorphic round cells, (2) small nuclei with stippled or granular chromatin, and (3) acellular fibrillary areas or neuropil (islands). Other cytologic features often encountered were: rosette-like structures, micronucleoli, perinuclear haloes, well-formed capillary-sized vessels and calcifications. CONCLUSION: Differential diagnosis of CNs can be a diagnostic challenge. The integration of radiologic imaging and touch preparations taking into account specific cytologic features and frozen sections is necessary for an optimal intraoperative assessment.

Supratentorial intraventricular solitary schwannoma. Case report and literature review.

OBJECTIVE: The objectives of this study were to present a case of a solitary intraventricular schwannoma with a review of the literature and to analyse the current theories of its origin. DESCRIPTION: A 16-year-old male patient, without any pathological, genetic or familial history of significance, presented with symptoms of intracranial hypertension and progressive left brachiocrural paresis. The magnetic resonance image showed a bulky intraventricular space-occupying lesion emerging from the posterior horn of the right lateral ventricle, with an irregular nodular component intimately connected to the choroid plexus, and a multiloculated cystic component extending beyond the ventricle. SURGICAL APPROACH: A right parietal craniotomy was performed, revealing a multiloculated cyst with xantochromic fluid and a soft brownish red nodule. The lesion was dissected surrounding the periphery and coagulating a vascular pedicle related to the wall of the right lateral ventricle and its choroid plexus. Total excision was achieved. The pathological exam reported an intraventricular schwannoma (WHO grade 1). The patient evolved favourably, with no recurrence at 36-month follow-up. CONCLUSION: The literature describes less than 45 cases of schwannomas not associated to cranial nerves of the following locations: intramedullary, leptomeningeal and only 12 intraventricular cases. The three theories explaining the origin of this last group describe: (1) a neoplastic transformation of peripheral nerve fibres, (2) a neoplastic transformation of autonomic neural tissue located within the intraventricular choroid plexus and (3) an abnormal embryogenesis leading to a failed migration of the neural crest cells. Complete resection is the therapeutic goal for this benign pathology to avoid recurrence.

Purely neuroendoscopic resection of an intraventricular cavernous angioma: case report.

BACKGROUND: Intraventricular cavernomas are rare and generally treated by microsurgical approach. With the advances in neuroendoscopy, intraventricular lesions have been managed by this technique. However, tumor size and vascular nature are considered restrictive factors. As far as we are concerned, there are two cases in the literature of intraventricular cavernoma resection done by neuroendoscopy. CASE: We describe a case of a man who presented with hydrocephalus secondary to a mesencephalic cavernoma and a second cavernous angioma located at the dorsum thalamus. This second lesion was successfully removed using a pure neuroendoscopic technique at the same time as a third ventriculostomy was performed. CONCLUSION: As neuroendoscopy evolves, we see that lesions considered impossible to be managed by neuroendoscopy before today are being treated with the advantages that the minimally invasive surgery offers.

Clinical and cytogenetic analysis of an intracranial inflammatory myofibroblastic tumor induced by a ventriculoperitoneal shunt.

The authors report the first case of an intracranial inflammatory myofibroblastic tumor (IMT) associated with the placement of a ventriculoperitoneal shunt, which occurred in a 7-year-old boy. Neuroradiological features showed a mass surrounding the ventricular catheter. The lesion was completely resected. Histological study revealed the mass to be an IMT. The patient's postoperative course was complicated by a local recurrence requiring a second surgery. Cytogenetic analysis of the sample by comparative genome hybridization revealed several chromosomal amplifications and regional losses. The occurrence of IMT in the CNS has rarely been reported. For treatment of this condition, the authors recommend a total removal of the shunt with a mass excision to prevent local recurrence.

[Subependymal nodules-sudependymal giant cell astrocytoma complex in children with tuberous sclerosis]. / Complejo nódulo subependimario-astrocitoma subependimario gigantocelular en niños con esclerosis tuberosa.

The object of this paper is to describe the imaging and clinical characteristics of subependymal nodule (SN) - subependymal giant cell astrocytoma (SGCA) complex in tuberous sclerosis and analyze its evolution in order to attempt early detection and the prevention of intracranial hypertension. We evaluated 22 patients with the pathological diagnosis of SGCA. The diagnosis was made at a median of 10.1 years old. We were able to observe the evolution of SN to ASGC: these SN were localized adjacent to the foramen of Monro and with time they underwent an important development with intense contrast enhancement and hydrocephalus. The acceleration in SN growth and its "transformation" into SGCA occurred at an average of 10 years of age, with a mean diameter of 9 mm. No SN located far from the foramen of Monro evolutioned to SGCA. Fifteen patients (68%) were operated with symptoms of intracranial hypertension. Average age at surgery was 10.8 years old. Six patients presented visual deficit and in these, the average diameter of the tumor was 31.5 mm, a high value when compared to 18.7 mm in the patients without visual deficit. The imaging and clinical follow-up of any subependymal lesion close to the foramen of Monro will permit, at a presymptomatic stage, an anticipation of surgical treatment thus reducing intracranial hypertension incidence. Prospective studies could determine whether the SN-SGCA complex corresponds to the same entity in distinct evolution stages or to two lesions with different growth potential.

Complejo nódulo subependimario-astrocitoma subependimario gigantocelular en niños con esclerosis tuberosa / Subependymal nodules-subependymal giant cell astrocytoma complex in children with tuberous sclerosis

El objetivo fue describir las características clínico imagenológicas de niños con esclerosis tuberosa que presentaron el complejo Nódulo Subependimario (NS)-Astrocitoma Subependimario Gigantocelular(ASGC) y analizar el comportamiento evolutivo de dicho "complejo" para detectar precozmente su crecimiento y evitar las complicaciones de la hipertensión endocraneana (HTE). Evaluamos 22 pacientes con diagnóstico anátomo patológico de ASGC. El diagnóstico del tumor se realizó a una media de 10.1 años. Pudimos observar la evolución de NS a ASGC; estos NS se ubicaron adyacentes al agujero de Monro y con el tiempo tuvieron un importante crecimiento con intensa captación de contraste e hidrocefalia. La aceleración en el crecimiento de estos NS y su "transformación" en ASGC se produjo a los 10 años de edad promedio, con un diámetro medio de 9 mm. Ningún NS alejado de los forámenes de Monro evolucionó a ASGC. Quince pacientes (68%) fueron operados con síntomas de hipertensión endocraneana. La edad media de la cirugía fue 10.8 años. Seis pacientes presentaron déficit visual. En estos últimos, el diámetro medio mayor del tumor fue 31.5 mm, mayor que los 18.7 mm del grupo de pacientes que no presentó secuela visual. El seguimiento clínico imagenológico periódico de toda lesión subependimaria próxima a los agujeros de Monro, permitiría en etapa presintomática anticipar un tratamiento quirúrgico, que reduciría la incidencia de HTE. Estudios prospectivos podrían determinar si el complejo NS-ASGC corresponde a una misma entidad en distinta etapa evolutiva, o son dos lesiones con diferente potencial de crecimiento.

The object of this paper is to describe the imaging and clinical characteristics of subependymal nodule (SN) - subependymal giant cell astrocytoma (SGCA) complex in tuberous sclerosis and analyze its evolution in order to attempt early detection and the prevention of intracranial hypertension. We evaluated 22 patients with the pathological diagnosis of SGCA. The diagnosis was made at a median of 10.1 years old. We were able to observe the evolution of SN to ASGC: these SN were localized adjacent to the foramen of Monro and with time they underwent an important development with intense contrast enhancement and hydrocephalus. The acceleration in SN growth and its "transformation" into SGCA occurred at an average of 10 years of age, with a mean diameter of 9 mm. No SN located far from the foramen of Monro evolutioned to SGCA. Fifteen patients (68%) were operated with symptoms of intracranial hypertension. Average age at surgery was 10.8 years old. Six patients presented visual deficit and in these, the average diameter of the tumor was 31.5 mm, a high value when compared to 18.7 mm in the patients without visual deficit. The imaging and clinical follow-up of any subependymal lesion close to the foramen of Monro will permit, at a presymptomatic stage, an anticipation of surgical treatment thus reducing intracranial hypertension incidence. Prospective studies could determine whether the SN-SGCA complex corresponds to the same entity in distinct evolution stages or to two lesions with different growth potential.

Choroid plexus acinar adenoma: a case report.

Mucus-secreting adenomas or acinar adenoma of the choroid plexus are very rare. We report the case of a 79-year-old male with a 3-year history of occipital headaches with vomiting, ataxia and cerebellar signs. He was first seen due to difficulty while walking. He was admitted to the hospital with significant tumor expansion and clinical deterioration. CT and MRI revealed obstructive hydrocephalus secondary to a large fourth ventricular cyst mass, which enhanced markedly on contrast administration. Pathological findings were consistent with an acinar choroid plexus adenoma. The tumor was attached to the ependymal lining and was strongly adhered to the walls and floor of the IV ventricle. Post-operative bleeding complicated partial removal of this tumor. The patient died 6 h after surgery.

Peritoneal dissemination from central neurocytoma: case report

OBJECTIVE: central neurocytoma is a low grade tumor of neuroglial origin and a relatively new histological entity. Only a few cases have been reported and its biological behavior is still uncertain. Some cases have shown an aggressive behavior (local recurrence, malignant dedifferentiation or CSF dissemination) and challenged the initial view of its relative benignity. A case of central neurocytoma with peritoneal dissemination is presented. CASE: a six years-old boy with recurrent neurocytoma of III ventricle and left thalamus showed fast growth of tumor rest and ascites three and a half years after subtotal removal of the lesion. Tumor cells were identified in the ascitic fluid and implanted in the peritoneum. Chemotherapy was initiated immediately after diagnosis of peritoneal dissemination (etoposide, carboplatin, doxorubicin and cyclophosphamide). The patient developed metabolic imbalance and respiratory failure due to rapid formation of ascitic fluid and died 3 days after the diagnosis of peritoneal dissemination was established. CONCLUSION: central neurocytoma is a low grade tumor with low values of the proliferative index in the majority of cases. In spite of that, some tumors may present a very aggressive behavior and extraneural dissemination. Evaluation of proliferative index may be a guideline parameter for planning adjuvant therapies after surgical treatment in selected cases. Extraneural dissemination may occur in some cases specially in patients with ventriculoperitoneal shunt

Peritoneal dissemination from central neurocytoma: case report.

OBJECTIVE: Central neurocytoma is a low grade tumor of neuroglial origin and a relatively new histological entity. Only a few cases have been reported and its biological behavior is still uncertain. Some cases have shown an aggressive behavior (local recurrence, malignant dedifferentiation or CSF dissemination) and challenged the initial view of its relative benignity. A case of central neurocytoma with peritoneal dissemination is presented. CASE: A six years-old boy with recurrent neurocytoma of III ventricle and left thalamus showed fast growth of tumor rest and ascites three and a half years after subtotal removal of the lesion. Tumor cells were identified in the ascitic fluid and implanted in the peritoneum. Chemotherapy was initiated immediately after diagnosis of peritoneal dissemination (etoposide, carboplatin, doxorubicin and cyclophosphamide). The patient developed metabolic imbalance and respiratory failure due to rapid formation of ascitic fluid and died 3 days after the diagnosis of peritoneal dissemination was established. CONCLUSION: Central neurocytoma is a low grade tumor with low values of the proliferative index in the majority of cases. In spite of that, some tumors may present a very aggressive behavior and extraneural dissemination. Evaluation of proliferative index may be a guideline parameter for planning adjuvant therapies after surgical treatment in selected cases. Extraneural dissemination may occur in some cases specially in patients with ventriculoperitoneal shunt.

[Central nervous system neurocytomas: clinicopathological analysis of tree cases]. / Neurocitomas do sistema nervoso central: análise clínico-patológica de três casos.

Central nervous system neurocytoma is a rare benign tumor of neuronal origin. Because of some clinical and radiological findings CNS neurocytomas were confused with other intraventricular lesions (ependymomas, choroid plexus papilloma, oligodendrogliomas, subependymal astrocytomas). Pathological diagnosis improved with immunohistochemical and electron microscopic studies. We present three cases of intraventricular neurocytomas confirmed by immunohistochemical studies. According to the literature clinical signs, radiological features, surgical and pathological findings are discussed.

Neurocitomas do sistema nervoso central: análise clínico-patológica de três casos / Central nervous system neurocytomas: clinicopathological analysis of 3 cases

Os neurocitomas do sistema nervoso central säo tumores raros, na maioria intracranianos e caracterizados pela sua benignidade. Por muito tempo permaneceram insuficientemente conhecidos, em razäo da sua distinçäo clínica e radiológica difícil entre os tumores intraventriculares (ependimomas, papilomas do plexo coróide, oligodendrogliomas, astrocitomas sub-ependimßrios) e da semelhança histolóógica com os oligodendrogliomas. O diagnóstico passou a ser possível através da análise imuno-histoquínica específica e da microscopia eletrônica. Nós apresentamos três casos clínicos de neurocitomas intraventriculares confirmados pelo estudo imuno-histoquínico. A apresentaçäo clínica, os dados radiológicos, cirúrgicos, anatomopatológicos e o prognóstico seräo discutidos em comparaçäo aos dados recentes da literatura

[Third ventricle meningioma in a child: case report]. / Meningioma do terceiro ventrículo na infância: relato de caso.

Meningiomas in childhood are rare, and those located in the third ventricle are even rarer, with only 16 cases reported. A five-year-old girl was seen at our hospital with headache and bilateral papilledema. CT scan showed a large third ventricular mass and associated hydrocephalus. Transcallosal interfornical approach was performed with total removal of the tumor, that was attached to the choroid plexus of the anterior third ventricle. Histologically the lesion proved to be a transitional meningioma. The recovery was uneventful, a permanent shunt was not necessary. The diagnosis of these tumors can be done using CT scan or MRI, that usually are sufficient for surgical planning. Angiography usually is not required, unless a vascular lesion is concerned, or embolization is necessary. The treatment of these tumors is surgical, aiming the total removal of the lesion, usually curative once it is acomplished. We report this case, and add a brief review of the literature on third ventricle meningiomas.

[Cavernoma of the lateral ventricle: case report]. / Cavernoma do ventrículo lateral: relato de caso.

UNLABELLED: Cavernous malformations are uncommon lesions that are usually present in the cerebral hemispheres. They occur rarely in the ventricular system, and even more rarely in the lateral ventricle. Only 28 cases have been previously reported in the literature. CASE: We present one case of lateral ventricle cavernoma in a 15-years-old female patient, who suffered of mild chronic headache for 8 months, followed by two episodes of sudden intensive headache and stupor with complete recovery after 48 hours. CT scan was performed and revealed a voluminous size, hiperdense mass in the frontal horn of the lateral ventricle. The surgical access to site was through transcallosal interhemisphere approach. The patient had a good recovery without complications. CONCLUSION: Although lateral ventricle cavernomas are rare they should be considered in the differential diagnosis of intraventricular tumors. A wrong preoperative diagnosis has sometimes induced a wrong therapy, such as radiotherapy, for these surgically curable benign lesions.

Meningioma do terceiro ventrículo na infância: relato de caso / Third ventricle meningioma in a child: case report

OBJETIVO: Meningiomas intraventriculares sao lesoes raras, mais ainda as que acometem o terceiro ventrículo. Na infância, somente 16 casos foram relatados na literatura. Acrescentamos este relato de meningioma da parte anterior do terceiro ventrículo em uma menina, juntamente com breve revisao da literatura. APRESENTAÇAO E INTERVENÇAO: Criança previamente hígida, de 5 anos, foi internada com história de vômitos e cefaléa de 2 meses de duraçao. Ao exame clínico e neurológico, foi notado somente papiledema. Foi realizada tomografia computadorizada de crânio, que mostrou volumosa lesao na linha média supratentorial, ocupando toda a regiao do terceiro ventrículo, captante, com dilataçao ventricular suprajacente. A paciente foi submetida a craniotomia frontal direita, e a lesao totalmente removida através da via transcalosa interfornical. O pós-operatório foi sem intercorrências, e nao foi necessária derivaçao ventricular permanente. Hoje, dois anos e meio após a alta, a criança está em acompanhamento ambulatorial, sem déficits neurológicos, com bom desempenho escolar e sem evidência de recidiva nas tomografias de controle. CONCLUSAO: Meningiomas da parte anterior do terceiro ventrículo sao lesoes raras na infância. O tratamento cirúrgico dos meningiomas intraventriculares no passado era associado a altas taxas de morbidade e mortalidade. Com o advento das modernas técnicas neuroanestésicas e neurocirúgicas, e do suporte intensivo pós-operatório, atualmente estas lesoes podem ser removidas na sua totalidade, com morbidade e mortalidade praticamente nulas