Multimodal management of giant solid hemangioblastomas in two patients with preoperative embolization.

Background: Hemangioblastomas are benign vascular neoplasms, World Health Organization grade I, with the most frequent location in the cerebellum. Complete microsurgical resection can be a challenge due to excessive bleeding, which is why preoperative embolization takes importance. Case Description: Two clinical cases are presented, a 25-year-old woman and a 75-year-old man, who presented with intracranial hypertension symptoms due to obstructive hydrocephalus; a ventriculoperitoneal shunt was placed in both cases; in addition, they presented with cerebellar signs. Both underwent embolization with ethylene vinyl alcohol copolymer, with blood flow reduction. After that, they underwent microsurgical resection within the 1st-week post embolization, obtaining, in both cases, gross total resection without hemodynamic complications, with clinical improvement and good surgical outcome. It is worth mentioning that surgical management is the gold standard that allows a suitable surgical approach, like in our patients, for which a lateral suboccipital craniotomy was performed. Conclusion: Solid hemangioblastomas are less frequent than their cystic counterparts. The treatment is the surgical resection, which is a challenge and always has to be considered as an arteriovenous malformation in the surgical planning, including preoperative embolization to reduce perioperative morbidity and mortality and get good outcomes.

Embryonal tumor with multilayered rosettes arising from the internal auditory canal of an adult: Illustrative case with molecular investigations.

Embryonal tumors with multilayered rosettes (ETMRs) are aggressive central nervous system (CNS) tumors that usually occur in young children. Here, we describe the first incidence of ETMR in an adult patient that also originated in the novel location of the internal auditory canal (IAC). The 36-year-old patient initially presented with unsteadiness, diplopia, and tinnitus. The tumor in the IAC was discovered on brain magnetic resonance imaging, and gross total resection was performed followed by pathological and molecular diagnosis. The patient received whole brain and spinal cord radiotherapy after an intracranial recurrence and adjuvant chemotherapy consisting of four cycles of ifosfamide, cisplatin, and etoposide. Progression was rapid; however, the patient survived for 22 months after diagnosis before succumbing to the disease. Molecular investigation revealed a DICER1 mutation at exon 25, and methylation classification categorized the tumor as ETMR, non-C19MC-altered. This case underscores the diverse possible presentations of ETMR, DICER1-mutated and the importance of molecular techniques to characterize and promptly treat atypical ETMR.

A comprehensive genomic study of 390 H3F3A-mutant pediatric and adult diffuse high-grade gliomas, CNS WHO grade 4.

Malignant brain tumors, known as H3K27-altered diffuse midline glioma (DMG) and H3G34-mutant diffuse hemispheric glioma (DHG), can affect individuals of all ages and are classified as CNS WHO grade 4. We comprehensively characterized 390 H3F3A-mutant diffuse gliomas (201 females, 189 males) arising in pediatric patients (under 20 years old) and adults (20 years and older) evaluated by the CGP program at Foundation Medicine between 2013 and 2020. We assessed information from pathology reports, histopathology review, and clinical data. The cohort included 304 H3K27M-mutant DMG (156 females, 148 males) and 86 H3G34-mutant DHG (45 females, 41 males). Median patient age was 20 years (1-74 years). The frequency of H3K27M-mutant DMG was similar in both pediatric and adult patients in our cohort-48.6% of the patients were over 20 years old, 31.5% over 30, and 18% over 40 at initial diagnosis. FGFR1 hotspot point mutations (N546K and K656E) were exclusively identified in H3K27M-mutant DMG tumors (64/304, 21%; p = 0.0001); these tend to occur in older patients (median age: 32.5 years) and mainly arose in the diencephalon. H3K27M-mutant DMG had higher rates of mutations in NF1 (31.0 vs 8.1%; p = 0.0001) and PIK3CA/PIK3R1 (27.9% vs 15.1%; p = 0.016) compared to H3G34-mutant DHG. However, H3G34-mutant DHG had higher rates of targetable alterations in cell-cycle pathway genes (CDK4 and CDK6 amplification; CDKN2A/B deletion) (27.0 vs 9.0%). Potentially targetable PDGFRA alterations were identified in ~ 20% of both H3G34-mutant DHG and H3K27M-mutant DMG. Overall, in the present study H3K27M-mutant DMG occurred at similar rates in both adult and patient patients. Through our analysis, we were able to identify molecular features characteristic of DMG and DHG. By identifying the recurrent co-mutations including actionable FGFR1 point mutations found in nearly one-third of H3K27M-mutant DMG in young adults, our findings can inform clinical translational studies, patient diagnosis, and clinical trial design.

Trigeminal neuralgia in patients with cerebellopontine angle tumors: should we always blame the tumor? A case report and review of literature.

OBJECTIVES: This report seeks to highlight a pitfall that may be encountered in the management of patients with trigeminal neuralgia with imaging showing both neurovascular conflict as well as tumors. CASE PRESENTATION: A case of a 53 year old male with simultaneous neurovascular conflict and a vestibular schwannoma with trigeminal neuralgia is presented and the management is discussed with reference to managing this particular subset. Pain was noted to be likely generated by neurovascular conflict and not by the tumor, which is usually not the case. CONCLUSIONS: It is suggested that in such cases, microvascular decompression should always be performed in addition to removal of the tumor.

Rotational Occipital Scalp Flap for Occipital Pressure Ulcer.

Occipital pressure ulcers and wound gaping may occur in unconscious and malnourished patients. Most of the time, a large defect requires wound coverage by scalp flaps. This video describes a rotational occipital scalp flap for occipital pressure ulcer and wound gaping in a patient of operated midline posterior fossa mass & ventriculoperitoneal shunt. The defect measured 2.25 × 2.5 cm with exposed inion. The wound was included in an imaginary triangle, and the horizontal and vertical incision lengths were about four times the base of the triangle. The flap was based on the left occipital artery and raised in an avascular plane above the periosteum. The wound margins were freshened and undermined. The flap was rotated to bring it over the defect, and suturing was done in the standard manner. The flap had good healing, and the patient continued to be under care for his cerebellar medulloblastoma.

Preoperative and postoperative high angular resolution diffusion imaging tractography of cerebellar pathways in posterior fossa tumors.

This study aimed to utilize high angular resolution diffusion magnetic resonance imaging (HARDI) tractography in the mapping of the pathways of the cerebellum associated with posterior fossa tumors (infratentorial neoplasms) and to determine whether it is useful for preoperative and postoperative evaluation. Retrospective data from 30 patients (age 2-16 yr) with posterior fossa tumor (17 low grade, 13 high grade) and 30 age-sex-matched healthy controls were used. Structural and diffusion-weighted images were collected at a 3-tesla scanner. Tractography was performed using Diffusion Toolkit software, Q-ball model, FACT algorithm, and angle threshold of 45 degrees. Manually assessed regions of interest were placed to identify reconstructed fiber pathways passing through the superior, medial, and inferior cerebellar peduncles for the preoperative, postoperative, and healthy control groups. Fractional anisotropy (FA), apparent diffusion coefficient (ADC), and track volume measures were obtained and analyzed. Statistically significant differences were found between the preop/postop, preop/control, and postop/control comparisons for the volume of the tracts in both groups. Displacement and disruption of the pathways seemed to differ in relation to the severity of the tumor. The loss of pathways after the operation was associated with selective resection during surgery due to tumor infiltration. There were no FA differences but significantly higher ADC in low-grade tumors, and no difference in both FA and ADC in high-grade tumors. The effects of posterior fossa tumors on cerebellar peduncles and reconstructed pathways were successfully evaluated by HARDI tractography. The technique appears to be useful not only for preoperative but also for postoperative evaluation.

A giant fourth-ventricular tuberculoma mimicking a primary posterior fossa tumor.

Typically, an intracranial tuberculoma occurs within the brain parenchyma. Intraventricular tuberculomas are rare in the absence of systemic tuberculosis (TB), and the differential diagnosis between tuberculoma and other lesions, such as primary brain tumors, can be difficult. We report an extremely unusual case of solitary fourth-ventricular tuberculoma, which occurred in a 3-year-old female patient, with no indication of TB. This lesion appeared as a primary intraventricular tumor in the fourth ventricle in both clinical and radiological examinations. In this scenario, a surgical treatment option was pursued. Histopathological testing supported the diagnosis of tuberculoma. The patient was subsequently treated with 18 months' therapy for tuberculous, without adverse events.

Meningioma of the Fourth Ventricle: Literature Review

Meningiomas are among the most common central nervous system tumors, with an incidence that ranges from 15% to 40% of intracranial tumors. Of these, only 0.5% to 3% are intraventricular, and the rarest of them occurs in the fourth ventricle. Fourth-ventricle meningiomas originate generally fromthe choroid plexus and have no dural adhesions. Most often, they manifest in young patients, around 41 years of age, with a possible predominance in females, through intracranial hypertension and cerebellar syndromes. The treatment consists of surgical resection, which commonly presents good results due to the characteristics of the tumor. So, for better preoperative planning, the radiological differentiation of the most frequent tumors in this location is important. Themost common histologic subtypes are fibroblastic and meningothelial, both grade I according to the World Health Organization (WHO), although there are reports of tumors of grades II and III. We report a case ofmeningioma of the fourth ventricle operated in our institution, and we have conducted a literature review, through which we found that 57 cases have been reported so far, with the first one reported in 1938.

Ondine's curse: myth meets reality.

Ondine's curse is one of the most enchanting mythical tales in the field of Medicine. The nymph Ondine was an immortal water spirit who became human after falling in love for a man, marrying him, and having a baby. In one of the versions of the tale, when she caught her husband sleeping with another woman, she cursed him to remain awake in order to control his own breathing. During the 19th century, the rare syndrome characterized by loss of autonomic breath control, while voluntary respiration remains intact, was cleverly named "Ondine's curse". Nowadays, the term Ondine's curse is usually associated with congenital central hypoventilation syndrome; however, in medical literature, it also designates several respiratory disorders. Here, we present a review of the myth focused on history, arts and medicine.

[A clinical analysis of 5 patients with infratentorial primary angiitis of central nervous system].

Objective: To explore the clinical characteristics of infratentorial primary angiitis in central nervous system(PACNS). Methods: A total of 5 cases diagnosed as infratentorial PACNS in the neurology department of Navy General Hospital of PLA in 2015 were enrolled in the study. The clinical, imaging and pathological data were collected and analyzed. Results: All the 5 cases were male with the median onset age of thirty-four. Five cases presented with dizziness, two with headache, three with walking unstable, two with facial numbness and one with dysarthria. Rising pressure of cerebrospinal fluid (CSF) (190-245 cmH(2)O, 1 cmH(2)O=0.098 kPa) was found in 4 cases by the lumbar puncture, mildly increased number of leukocyte in 2 cases [(12-28)×10(6)/L], increased CSF protein in 3 cases(540-979 mg/L) and increased IgG index in 3 cases(0.84-1.45). Pons lesions were revealed by magnetic resonance imaging(MRI)in 4 cases, brachium pontis lesions in 2 cases, cerebellum lesions in 2 cases, one with midbrain lesion in 1 case, unilateral lesions in 4 cases and bilateral lesion in 1 case. Different degree of edema and mass effect were shown in all lesions by MRI. Patch like enhancement was found by contrast MRI in 5 cases and meningeal enhancement in 2 cases. Elevation of choline(Cho)peak was found by magnetic resonance spectroscopy(MRS)in 4 cases, reduction of N-acetyl aspartate(NAA) peak in 3 cases, appearance of lactate peak in 1 case and lipid peak in another case. Arterial spin labeling(ASL) was performed in 4 cases and no hyperperfusion was found. Susceptibility weighted imaging(SWI) was performed in 3 cases and microhemorrhage in the lesions was found in 2 cases and normal in 1 case. Magnetic resonance arteriography(MRA) was performed in 1 case and no stenosis was found. Digital subtraction arteriography(DSA) was performed in 1 case and multiple stenosis of the intracranial arteries was showed. Two cases had taken the stereotactic brain biopsy and the histopathologic diagnosis was angiitis. Five cases were treated with methylprednisolone and cyclophosphamide was added on in 1 case. Good prognosis was found in all cases. Conclusions: Infratentorial PACNS mostly attacks middle-aged males. The lesions tend to locate in unilateral pons, brachium pontis, cerebellum and midbrain. Hemorrhage or microhemorrhage in lesions is often found by SWI and no hyperperfusion is shown by ASL, which would be useful to distinguish PACNS from malignant tumors. Given the limitations of brain biopsy in clinical practice, clinical and imaging features would be helpful to diagnose PACNS.

Intraoperative neurophysiological monitoring during resection of infratentorial lesions: the surgeon's view.

OBJECTIVE Methods of choice for neurophysiological intraoperative monitoring (IOM) within the infratentorial compartment mostly include early brainstem auditory evoked potentials, free-running electromyography, and direct cranial nerve (CN) stimulation. Long-tract monitoring with somatosensory evoked potentials (SEPs) and motor evoked potentials (MEPs) is rarely used. This study investigated the incidence of IOM alterations during posterior fossa surgery stratified for lesion location. METHODS Standardized CN and SEP/MEP IOM was performed in 305 patients being treated for various posterior fossa pathologies. The IOM data were correlated with lesion locations and histopathological types as well as other possible confounding factors. RESULTS Alterations in IOM were observed in 158 of 305 cases (51.8%) (CN IOM alterations in 130 of 305 [42.6%], SEP/MEP IOM alterations in 43 of 305 [14.0%]). In 15 cases (4.9%), simultaneous changes in long tracts and CNs were observed. The IOM alterations were followed by neurological sequelae in 98 of 305 cases (32.1%); 62% of IOM alterations resulted in neurological deficits. Sensitivity and specificity for detection of CN deficits were 98% and 77%, respectively, and 95% and 85%, respectively, for long-tract deficits. Regarding location, brainstem and petroclival lesions were closely associated with concurrent CN IOM and SEP/MEP alterations. CONCLUSIONS The incidence of IOM alterations during surgery in the posterior fossa varied widely between different lesion locations and histopathological types. This analysis provides crucial information on the necessity of IOM in different surgical settings. Because MEP/SEP and CN IOM alterations were commonly observed during posterior fossa surgery, the authors recommend the simultaneous use of both modalities based on lesion location.

A clinical analysis of 5 patients with infratentorial primary angiitis of central nervous system / 中华内科杂志

Objective To explore the clinical characteristics of infratentorial primary angiitis in central nervous system (PACNS).Methods A total of 5 cases diagnosed as infratentorial PACNS in the neurology department of Navy General Hospital of PLA in 2015 were enrolled in the study.The clinical,imaging and pathological data were collected and analyzed.Results All the 5 cases were male with the median onset age of thirty-four.Five cases presented with dizziness,two with headache,three with walking unstable,two with facial numbness and one with dysarthria.Rising pressure of cerebrospinal fluid (CSF) (190-245 cmH2O,1 cmH2O =0.098 kPa) was found in 4 cases by the lumbar puncture,mildly increased number of leukocyte in 2 cases [(12-28) × 106/L],increased CSF protein in 3 cases(540-979 mg/L) and increased IgG index in 3 cases (0.84-1.45).Pons lesions were revealed by magnetic resonance imaging(MRI) in 4 cases,brachium pontis lesions in 2 cases,cerebellum lesions in 2 cases,one with midbrain lesion in 1 case,unilateral lesions in 4 cases and bilateral lesion in 1 case.Different degree of edema and mass effect were shown in all lesions by MRI.Patch like enhancement was found by contrast MRI in 5 cases and meningeal enhancement in 2 cases.Elevation of choline (Cho) peak was found by magnetic resonance spectroscopy (MRS) in 4 cases,reduction of N-acetyl aspartate (NAA) peak in 3 cases,appearance of lactate peak in 1 case and lipid peak in another case.Arterial spin labeling (ASL) was performed in 4 cases and no hyperperfusion was found.Susceptibility weighted imaging(SWI) was performed in 3 cases and microhemorrhage in the lesions was found in 2 cases and normal in 1 case.Magnetic resonance arteriography(MRA) was performed in 1 case and no stenosis was found.Digital subtraction arteriography(DSA) was performed in 1 case and multiple stenosis of the intracranial arteries was showed.Two cases had taken the stereotactic brain biopsy and the histopathologic diagnosis was angiitis.Five cases were treated with methylprednisolone and cyclophosphamide was added on in 1 case.Good prognosis was found in all cases.Conclusions Infratentorial PACNS mostly attacks middle-aged males.The lesions tend to locate in unilateral pons,brachium pontis,cerebellum and midbrain.Hemorrhage or microhemorrhage in lesions is often found by SWI and no hyperperfusion is shown by ASL,which would be useful to distinguish PACNS from malignant tumors.Given the limitations of brain biopsy in clinical practice,clinical and imaging features would be helpful to diagnose PACNS.

Conjunct SEP and MEP monitoring in resection of infratentorial lesions: lessons learned in a cohort of 210 patients.

OBJECT: During the surgical removal of infratentorial lesions, intraoperative neuromonitoring is mostly focused on cranial nerve assessment and brainstem auditory potentials. Despite the known risk of perforating vessel injury during microdissection within the vicinity of the brainstem, there are few reports about intraoperative neuromonitoring with somatosensory evoked potentials (SEPs) and motor evoked potentials (MEPs) assessing the medial lemniscus and corticospinal tract. This study analyses the occurrence of intraoperative changes in MEPs and SEPs with regard to lesion location and postoperative neurological outcome. METHODS: The authors analyzed 210 cases in which patients (mean age 49 ± 13 years, 109 female) underwent surgeries involving the skull base (n = 104), cerebellum (n = 63), fourth ventricle (n = 28), brainstem (n = 12), and foramen magnum (n = 3). RESULTS: Of 210 surgeries, 171 (81.4%) were uneventful with respect to long-tract monitoring. Nine (23%) of the 39 SEP and/or MEP alterations were transient and were only followed by a slight permanent deficit in 1 case. Permanent deterioration only was seen in 19 (49%) of 39 cases; the deterioration was related to tumor dissection in 4 of these cases, and permanent deficit (moderate-severe) was seen in only 1 of these 4 cases. Eleven patients (28%) had losses of at least 1 modality, and in 9 of these 11 cases, the loss was related to surgical microdissection within the vicinity of the brainstem. Four of these 9 patients suffered a moderate-to-severe long-term deficit. For permanent changes, the positive predictive value for neuromonitoring of the long tracts was 0.467, the negative predictive value was 0.989, the sensitivity was 0.875, and the specificity 0.918. Twenty-eight (72%) of 39 SEP and MEP alterations occurred in 66 cases involving intrinsic brainstem tumors or tumors adjacent to the brainstem. Lesion location and alterations in intraoperative neuromonitoring significantly correlated with patients' outcome (p < 0.001, chi-square test). CONCLUSIONS: In summary, long-tract monitoring with SEPs and MEPs in infratentorial surgeries has a high sensitivity and negative predictive value with respect to postoperative neurological status. It is recommended especially in those surgeries in which microdissection within and in the vicinity of the brainstem might lead to injury of the brainstem parenchyma or perforating vessels and a subsequent perfusion deficit within the brainstem.

Meduloblastoma: correlação entre ressonância magnética convencional, difusão e espectroscopia de prótons / Medulloblastoma: correlation among findings of conventional magnetic resonance imaging, diffusion-weighted imaging and proton magnetic resonance spectroscopy", "_i": "en

OBJETIVO: Correlacionar os achados de ressonância magnética convencional, difusão e espectroscopia de prótons nos meduloblastomas, e compará-los aos dados da literatura. MATERIAIS E MÉTODOS: Análise retrospectivade exames de ressonância magnética pré-operatórios de nove pacientes na faixa pediátrica com diagnóstico histológico de meduloblastoma (oito desmoplásicos e um de células gigantes). Foram considerados dados demográficos e características do tumor como localização, característica morfológica, intensidade de sinal, realce, disseminação e achados na difusão e espectroscopia. RESULTADOS: Na maioria dos casos os tumores apresentaram epicentro no vermis cerebelar (77,8%), sendo predominantemente sólido (88,9%), com hipossinal nas seqüências ponderadas em T1 e iso/hipersinal nas seqüências ponderadas em T2 e FLAIR, realce heterogêneo (100%), sinais de disseminação/extensão tumoral (77,8%) e restrição à movimentação das moléculas de água (100%). A espectroscopia de prótons pela técnica STEAM (n = 6) demonstrou redução da relação Naa/Cr (83,3%) e aumento de Co/Cr (100%) e mI/Cr (66,7%), e pela técnica PRESS (n = 7) evidenciou pico de lactato (57,1%). CONCLUSÃO: O conjunto dos achados macroscópicosobtidos pela ressonância magnética, somado às características bioquímicas dos meduloblastomas, têm sido úteis na tentativa de diferenciação entre os principais tumores da fossa posterior.

OBJECTIVE: To correlate imaging findings of medulloblastomas at conventional magnetic resonance imaging, diffusion-weighted imaging and proton magnetic resonance spectroscopy, comparing them with data in the literature. MATERIALS AND METHODS: Preoperative magnetic resonance imaging studies of nine pediatric patients with histologically confirmed medulloblastomas (eight desmoplastic medulloblastoma, and one giant cell medulloblastoma) were retrospectively reviewed, considering demographics as well as tumorscharacteristics such as localization, morphology, signal intensity, contrast-enhancement, dissemination, anddiffusion-weighted imaging and spectroscopy findings. RESULTS: In most of cases the tumors were centeredin the cerebellar vermis (77.8%), predominantly solid (88.9%), hypointense on T1-weighted images andintermediate/hyperintense on T2-FLAIR-weighted images, with heterogeneous enhancement (100%), tumor dissemination/extension (77.8%) and limited water molecule mobility (100%). Proton spectroscopy acquiredwith STEAM technique (n = 6) demonstrated decreased Naa/Cr ratio (83.3%) and increased Co/Cr (100%)and mI/Cr (66.7%) ratios; and with PRESS technique (n = 7) demonstrated lactate peak (57.1%). CONCLUSION: Macroscopic magnetic resonance imaging findings in association with biochemical features of medulloblastomas have been useful in the differentiation among the most frequent posterior fossa tumors. Keywords: Medulloblastoma; Infratentorial neoplasms; Pediatric brain tumors; Magnetic resonance imaging;Diffusion-weighted magnetic resonance imaging; Magnetic resonance spectroscopy.