Acute acquired comitant esotropia associated with Lhermitte-Duclos disease: a case report.

BACKGROUND: Acute acquired comitant esotropia caused by prolonged near work, such as the use of digital devices, has been frequently reported in recent years. However, intracranial examination is necessary even for patients with nonparalytic comitant esotropia. Lhermitte-Duclos disease is a rare tumor that grows in layers in the cerebellum. Among those with this disease, cases of esotropia have been reported due to abduction limitation of the eye, but there have been no reports of comitant esotropia. Here, we report the case of a young woman with acute acquired comitant esotropia who was found to have Lhermitte-Duclos disease. CASE PRESENTATION: A 16-year-old Japanese female patient, whose ethnicity was Asian, was referred to our hospital for acute acquired comitant esotropia. Fundus examination revealed papilledema in both eyes, and magnetic resonance imaging of the head revealed a cerebellar tumor in the right cerebellum with obstructive hydrocephalus. She underwent partial tumor resection, and a histopathological diagnosis of Lhermitte-Duclos disease was obtained. However, comitant esotropia status remained unchanged, and she underwent strabismus surgery. Finally, diplopia disappeared completely. CONCLUSION: Neurological and intracranial imaging examinations are essential when acute acquired comitant esotropia is observed. Acute acquired comitant esotropia by Lhermitte-Duclos disease did not improve with partial tumor resection and required strabismus surgery, but good surgical results were obtained.

Gustatory Function in Patients With Cerebellopontine Angle Masses.

OBJECTIVE: To investigate the impact of cerebellopontine angle (CPA) masses on subjective and measured taste function. STUDY DESIGN: Retrospective cross-sectional study. SETTING: Tertiary referral center. PATIENTS: Consecutive adult patients with untreated CPA masses. INTERVENTIONS: Gustatory function was psychophysically measured with Taste Strips (range, 0-16) on both sides of the tongue. Subjective taste complaints were assessed using a questionnaire. MAIN OUTCOME MEASURES: Half-sided taste impairment (hemi-ageusia) was defined as side-to-side asymmetry ≥4 points with <9 points on the side of the CPA mass. We used the Koos classification for vestibular schwannomas (VS) and, in the case of facial nerve palsy, the House-Brackmann grading system. RESULTS: We included 135 patients (mean [standard deviation (SD)] age, 55.3 ± 14.1 yr; 62 males). The most common CPA mass was VS (77%). Overall, the measured taste function was lower on the affected compared with the healthy side of the tongue (mean score, 9.8 ± 3.3 versus 11 ± 2.9; p < 0.0001). Looking for clinically relevant one-sided taste impairment revealed 18 (13.3%) patients with hemi-ageusia, but only 4 (30.8%) of those subjectively complained of taste dysfunction. Regarding VS, Koos IV masses presented the lowest score on the affected side (mean score, 7.5 ± 3.7). Six patients presented with facial palsy. Having facial palsy did not result in a lower Taste Strips score (p = 0.23). CONCLUSION: Before any CPA mass treatment, a measurable ipsilateral decrease in gustatory function is present in many patients. Most patients do not notice this preexisting taste impairment. From a medicolegal standpoint, this warrants consideration. To avoid postoperative claims regarding taste function, a preoperative assessment may be considered.

Clinicopathological characteristics of secondary trigeminal neuralgia due to cerebellopontine angle tumors. / æ¡¥å°è„‘è§’è‚¿ç˜¤ç»§å‘æ€§ä¸‰å‰ç¥žç»ç—›çš„ä¸´åºŠç— ç†ç‰¹å¾.

OBJECTIVES: Cerebellopontine angle (CPA) tumors are a common cause of secondary trigeminal neuralgia (TN), characterized by their concealed location, slow progression, and difficulty in early detection. This study aims to explore the clinicopathological characteristics of patients with secondary TN due to CPA tumors to enhance understanding and management of secondary TN. METHODS: A retrospective analysis was conducted on clinical data and pathological results of 116 patients with CPA tumor-related TN treated at Xiangya Hospital of Central South University from January 1, 2017 to December 31, 2022. The study analyzed the relationship of tumor pathological types with clinical manifestations, tumor location, surgical methods, and treatment outcomes. RESULTS: Among the cases, 95.7% (111/116) were benign tumors, 3.4% (4/116) were malignant tumors, and 0.9% (1/116) were borderline tumors. Benign tumors were predominantly acoustic neuromas, meningiomas, and schwannomas. Among the patients, 46.6% (54/116) presented with isolated TN, while 53.4% (62/116) exhibited other associated symptoms depending on factors such as tumor growth location and rate. The complete resection rate in this group was over 90%, with 41.4% (48/116) of patients undergoing concurrent microvascular decompression after tumor resection, predominantly for schwannomas. The overall effective rate of surgical treatment reached 93.9%, with schwannomas showing higher efficacy rates compared with acoustic neuromas and meningiomas (P<0.05). The recurrence rate of acoustic neuromas was significantly higher than that of meningiomas and schwannomas (P<0.05). CONCLUSIONS: CPA tumors are a major cause of secondary TN, predominantly benign, with occasional underdiagnosed malignant tumors. Early diagnosis and treatment significantly impact prognosis. Different tumor types vary in clinical symptoms, surgical approaches, and treatment efficacy. Surgical strategies should balance tumor resection extent and neural function preservation, with microvascular decompression as necessary.

Using diffusion MRI to understand white matter damage and the link between brain microstructure and cognitive deficits in paediatric medulloblastoma patients.

PURPOSE: Survivors of medulloblastoma face a range of challenges after treatment, involving behavioural, cognitive, language and motor skills. Post-treatment outcomes are associated with structural changes within the brain resulting from both the tumour and the treatment. Diffusion magnetic resonance imaging (MRI) has been used to investigate the microstructure of the brain. In this review, we aim to summarise the literature on diffusion MRI in patients treated for medulloblastoma and discuss future directions on how diffusion imaging can be used to improve patient quality. METHOD: This review summarises the current literature on medulloblastoma in children, focusing on the impact of both the tumour and its treatment on brain microstructure. We review studies where diffusion MRI has been correlated with either treatment characteristics or cognitive outcomes. We discuss the role diffusion MRI has taken in understanding the relationship between microstructural damage and cognitive and behavioural deficits. RESULTS: We identified 35 studies that analysed diffusion MRI changes in patients treated for medulloblastoma. The majority of these studies found significant group differences in measures of brain microstructure between patients and controls, and some of these studies showed associations between microstructure and neurocognitive outcomes, which could be influenced by patient characteristics (e.g. age), treatment, radiation dose and treatment type. CONCLUSIONS: In future, studies would benefit from being able to separate microstructural white matter damage caused by the tumour, tumour-related complications and treatment. Additionally, advanced diffusion modelling methods can be explored to understand and describe microstructural changes to white matter.

Outcomes of Trigeminal Ganglion Sparing Surgical Resection of Nonacoustic Cerebellopontine Angle Tumors Causing Trigeminal Neuralgia.

OBJECTIVE: Tumors may be responsible for up to 5% of trigeminal neuralgia cases. Predictors of long-term pain relief after surgical resection of various cerebellopontine angle tumor types are not well understood. Previous studies found that size and extent of resection predict long-term pain status, although resection of tumor involving the trigeminal ganglion may be associated with high morbidity. This study evaluated predictors of TN pain freedom after resection of a nonacoustic CPA tumor, with avoidance of any portion involving the TG. METHODS: In a retrospective cohort study, we evaluated clinical outcomes and complications after surgical resection of nonacoustic CPA tumors with purposeful avoidance of the TG causing trigeminal neuralgia. The primary outcome was pain-freedom. We performed logistic regression analyses to examine the relationship between pain-freedom at last follow-up and age, side of symptoms, preoperative symptom duration, tumor diameter, tumor type, and concurrent neurovascular compression (NVC). RESULTS: Of 18 patients with nonacoustic CPA tumors causing TN treated with surgical resection, 83.3% were pain-free at last follow-up (mean 44.6 months). Age (P = 0.12), side (P = 0.41), preoperative symptom duration (P = 0.85), tumor diameter (P = 0.29), tumor type (P = 0.37), and NVC presence (P = 0.075) were not associated with long-term pain freedom. CONCLUSIONS: This study provides additional evidence that various tumor types causing TN may safely undergo surgical resection and decompression of the trigeminal nerve to treat TN. This study presents a cohort of patients that underwent resection of a nonacoustic CPA tumor, with purposeful avoidance of the TG to minimize complications, demonstrating high rates of long-term pain freedom.

Adaptive, behavioral, and emotional outcomes following postoperative pediatric cerebellar mutism syndrome in survivors treated for medulloblastoma.

OBJECTIVE: Patients who experience postoperative pediatric cerebellar mutism syndrome (CMS) during treatment for medulloblastoma have long-term deficits in neurocognitive functioning; however, the consequences on functional or adaptive outcomes are unknown. The purpose of the present study was to compare adaptive, behavioral, and emotional functioning between survivors with and those without a history of CMS. METHODS: The authors examined outcomes in 45 survivors (15 with CMS and 30 without CMS). Comprehensive neuropsychological evaluations, which included parent-report measures of adaptive, behavioral, and emotional functioning, were completed at a median of 2.90 years following craniospinal irradiation. RESULTS: Adaptive functioning was significantly worse in the CMS group for practical and general adaptive skills compared with the group without CMS. Rates of impairment in practical, conceptual, and general adaptive skills in the CMS group exceeded expected rates in the general population. Despite having lower overall intellectual functioning, working memory, and processing speed, IQ and related cognitive processes were uncorrelated with adaptive outcomes in the CMS group. No significant group differences or increased rates of impairment were observed for behavioral and emotional outcomes. CONCLUSIONS: Survivors with CMS, compared with those without CMS, are rated as having significant deficits in overall or general adaptive functioning, with specific weakness in practical skills several years posttreatment. Findings from this study demonstrate the high risk for ongoing functional deficits despite acute recovery from symptoms of CMS, highlighting the need for intervention to mitigate such risk.

Medulloblastoma in a child with osteoma cutis - a rare association due to loss of GNAS expression.

OBJECTIVES: Inactivating GNAS mutations result in varied phenotypes depending on parental origin. Maternally inherited mutations typically lead to hormone resistance and Albright's hereditary osteodystrophy (AHO), characterised by short stature, round facies, brachydactyly and subcutaneous ossifications. Paternal inheritance presents with features of AHO or ectopic ossification without hormone resistance. This report describes the case of a child with osteoma cutis and medulloblastoma. The objective of this report is to highlight the emerging association between inactivating germline GNAS mutations and medulloblastoma, aiming to shed light on its implications for tumor biology and promote future development of targeted surveillance strategies to improve outcomes in paediatric patients with these mutations. CASE PRESENTATION: A 12-month-old boy presented with multiple plaque-like skin lesions. Biopsy confirmed osteoma cutis, prompting genetic testing which confirmed a heterozygous inactivating GNAS mutation. At 2.5 years of age, he developed neurological symptoms and was diagnosed with a desmoplastic nodular medulloblastoma, SHH molecular group, confirmed by MRI and histology. Further analysis indicated a biallelic loss of GNAS in the tumor. CONCLUSIONS: This case provides important insights into the role of GNAS as a tumor suppressor and the emerging association between inactivating GNAS variants and the development of medulloblastoma. The case underscores the importance of careful neurological assessment and ongoing vigilance in children with known inactivating GNAS variants or associated phenotypes. Further work to establish genotype-phenotype correlations is needed to inform optimal management of these patients.

Cerebellar cognitive affective syndrome with long-term features of autism spectrum disorder: evidence in a 9-year-old girl after vermian medulloblastoma surgery.

The time course of socio-communicative disturbances in children after posterior fossa tumor resection is variable in clinical reports, and its assessment may help to understand the role of the cerebellum in the pathogenesis of socio-communicative disorders and improve rehabilitation plans. We report the 3-year cognitive-behavioral follow-up of a female patient (LZ) who underwent surgical ablation of the vermis due to medulloblastoma at age 9. LZ developed a severe post-operative Cerebellar Cognitive Affective Syndrome (CCAS) with cognitive-executive dysfunctions and behavioral alterations resembling an Autism Spectrum Disorder (ASD)-like syndrome. The lack of empathy and reduced ability to recognize others' intentions and mental states persisted at follow-up evaluations, as did language alterations. The present case report evidenced that lesions affecting cerebellar and vermal lobules may cause severe CCAS and impairment of social skills overlapping with that observed in ASD. This case is significant in its clinical features, revealing long-term social impairment, while the cognitive, linguistic, and executive functioning improved over time. Prospective case studies should plan the evaluation of symptoms of ASD within the clinical longitudinal assessment.

Al18F-NOTA-Octreotide PET/CT and 18F-FDG PET/CT for Detecting Cerebellar Hemangioblastoma in a Patient With Von Hippel-Lindau Disease.

ABSTRACT: Von Hippel-Lindau disease is a hereditary syndrome associated with various benign and malignant tumors, including hemangioblastomas. A 42-year-old man with a history of Von Hippel-Lindau disease underwent surgery for pancreatic neuroendocrine tumor and renal clear cell carcinoma and was recommended to undergo Al18F-NOTA-octreotide and 18F-FDG PETCT examination to assess potential metastases. 18F-FDG PET/CT showed low uptake in the right cerebellum, which demonstrated increased Al18F-NOTA-octreotide activity. Cerebellar mass resection surgery was performed. Pathological result was consistent with hemangioblastoma. This case report indicates the significant role of Al18F-NOTA-octreotide in the diagnosis of hemangioblastoma.

Characterising the Long-Term Language Impairments of Children Following Cerebellar Tumour Surgery by Extracting Psycholinguistic Properties from Spontaneous Language.

Following cerebellar tumour surgery, children may suffer impairments of spontaneous language. Yet, the language processing deficits underlying these impairments are poorly understood. This study is the first to try to identify these deficits for four levels of language processing in cerebellar tumour survivors. The spontaneous language of twelve patients who underwent cerebellar tumour surgery (age range 3-24 years) was compared against his or her controls using individual case statistics. A distinction was made between patients who experienced postoperative cerebellar mutism syndrome (pCMS) and those who did not. Time since surgery ranged between 11 months and 12;3 years. In order to identify the impaired language processing levels at each processing level (i.e., lexical, semantic, phonological and/or morphosyntactic) nouns and verbs produced in the spontaneous language samples were rated for psycholinguistic variables (e.g., concreteness). Standard spontaneous language measures (e.g., type-token ratio) were calculated as well. First, inter-individual heterogeneity was observed in the spontaneous language outcomes in both groups. Nine out of twelve patients showed language processing deficits three of whom were diagnosed with pCMS. Results implied impairments across all levels of language processing. In the pCMS-group, the impairments observed were predominantly morphosyntactic and semantic, but the variability in nature of the spontaneous language impairments was larger in the non-pCMS-group. Patients treated with cerebellar tumour surgery may show long-term spontaneous language impairments irrespective of a previous pCMS diagnosis. Individualised and comprehensive postoperative language assessments seem necessary, given the inter-individual heterogeneity in the language outcomes.

Single-fraction Radiation Treatment Dose Response in a Genetically Engineered Mouse Model of Medulloblastoma.

Medulloblastoma is the most common malignant brain tumor of children. Although standard of care radiotherapy for pediatric medulloblastoma (PM) can lead to long-term remission or cure in many patients, it can also cause life-long cognitive impairment and other adverse effects. The pathophysiological mechanisms involved in radiation-induced cerebral damage are incompletely understood, and their elucidation may lead to interventions that mitigate radiation toxicity. To explore the mechanisms of radiation-induced cerebral damage, transgenic mouse models of PM and non-tumor-bearing controls were exposed to radiation doses that ranged from 0 to 30 Gy. Between 0-20 Gy, a significant dose-dependent reduction in tumor-associated hydrocephalus and increase in overall survival were observed. However, at 30 Gy, hydrocephalus incidence increased and median overall survival fell to near-untreated levels. Immunohistochemistry revealed that both tumor-bearing and non-tumor-bearing mice treated with 30 Gy of radiation had significantly more reactive astrocytes and microvascular damage compared to untreated controls. This effect was persistent across mice that were given 1 and 2 weeks of recovery time after irradiation. Our data suggest that radiation therapy promotes neural death by inducing long-term neuroinflammation in PM, suggesting radiation delivery methods that limit inflammation may be effective at widening the therapeutic window of radiation therapy in PM patients.

A nomogram for predicting post-operative hydrocephalus in children with medulloblastoma.

Post-operative hydrocephalus is common among children with medulloblastoma after initial tumor resection. This study aimed to establish a novel model for predicting the development of post-operative hydrocephalus in children with medulloblastoma. Only pediatric patients who received initial medulloblastoma resection at Beijing Tiantan Hospital between January 2018 and May 2021 were included in this study. The potential risk factors associated with post-operative hydrocephalus were identified based on multivariate logistic regression and the nomogram. Receiver operating characteristic (ROC) curve were used to evaluate the performance of the nomogram model based on an independent cohort of medulloblastoma patients who underwent surgery from June 2021 to March 2022. A total of 105 patients were included in the primary cohort. Superior invasion (P = 0.007), caudal invasion (P = 0.025), and intraventricular blood ≥ 5 mm (P = 0.045) were significantly related to the development of post-operative hydrocephalus and thus were assembled into the nomogram model. The model accurately predicted post-operative hydrocephalus based on the calibration curve. The area under the ROC curves for the primary and validation cohorts was 0.849 and 0.855, respectively. In total, the nomogram we developed may aid clinicians in assessing the potential risk of pediatric patients with MB developing post-operative hydrocephalus, especially those who would otherwise not have received a diversionary procedure at presentation.

The insertion and management of an external ventricular drain in pediatric patients with hydrocephalus associated with medulloblastoma.

An external ventricular drain (EVD) is used to facilitate cerebrospinal fluid (CSF) removal in medulloblastoma patients suffering from hydrocephalus. It is essential to recognize that EVD management plays a crucial role in influencing the incidence of drain-related complications. However, the ideal method for EVD management remains undetermined. Our research sought to examine the safety of EVD placement and the impact of EVD on the incidences of intracranial infections, postresection hydrocephalus, and posterior fossa syndrome (PFS). We conducted a single-center observational study involving a cohort of 120 pediatric medulloblastoma patients who were treated from 2017 to 2020. The rates of intracranial infection, postresection hydrocephalus, and PFS were 9.2%, 18.3%, and 16.7%, respectively. EVD did not influence the occurrence of intracranial infection (p = 0.466), postresection hydrocephalus (p = 0.298), or PFS (p = 0.212). A gradual EVD weaning protocol correlated with an elevated incidence of postresection hydrocephalus (p = 0.033), whereas a rapid weaning approach resulted in 4.09 ± 0.44 fewer drainage days (p < 0.001) than the gradual weaning strategy. EVD placement (p = 0.010) and intracranial infection (p = 0.002) were linked to delayed speech return, whereas a longer duration of drainage was conducive to the recovery of language function (p = 0.010). EVD insertion was not correlated with the incidence of intracranial infection, postoperative hydrocephalus, or PFS. The optimal EVD management method should encompass a rapid EVD weaning strategy, followed by prompt drain closure. We have presented additional evidence to improve the safety of EVD insertion and management in neurosurgical patients to ultimately facilitate the establishment of standardized institutional/national implementation and management protocols.

Incidence and Risk Factors for Necessitating Cerebrospinal Fluid Diversion Following Medulloblastoma Surgery in Children.

BACKGROUND: There are insufficient data on pediatric patients with medulloblastoma who require cerebrospinal fluid (CSF) diversion following resection. Therefore, this study aimed to determine the incidence and the characteristics associated with it in this subset of patients. METHODS: We conducted a single-center, retrospective, observational cohort study of patients aged 18 years or less who underwent medulloblastoma resection at our department between 2010 and 2021. The primary outcome was the incidence of CSF diversion surgery required after resection. Participant demographics, tumor biology, and interventions were analyzed using univariate- and multivariate-adjusted models. RESULTS: Of the 183 patients admitted to our department, 131 (71.6%) participated in this study. The incidence of permanent CSF diversion was 26.0% (95% confidence interval [CI]: 18.7 to 34.3). Factors independently associated with requirement of permanent CSF diversion were medulloblastoma volume >46.4 cm3 (odds ratio [OR]: 2.919, 95% CI: 1.191 to 7.156) and CSF channel invasion (OR: 2.849, 95% CI: 1.142 to 7.102). The duration of manifestation may be a covariate of tumor volume with increased risk of requirement for permanent CSF diversion (OR: 1.006, 95% CI: 1.000 to 1.013), and tumor volume may be a predictor in patients who underwent subtotal resection (OR: 4.900, 95% CI: 0.992 to 24.208, P = 0.05). Finally, patients who required permanent CSF diversion were divided according to medulloblastoma molecular subgroups, and no significant differences were found. CONCLUSION: We report major predictive factors for permanent CSF diversion surgery in patients with medulloblastoma. Our study suggests that the presence of postresection hydrocephalus is not high enough to warrant permanent, prophylactic CSF diversion in all patients.

Pearls & Oy-sters: Cognitive and Affective Dysfunction Caused by a Small Cerebellar Hemangioblastoma.

The primary function of the cerebellum is the coordination and regulation of movement; therefore, cerebellar tumors usually present with ataxia, dysarthria, and vertigo. Large tumors also cause elevated intracranial pressure that may lead to a disturbance of consciousness. Furthermore, it has become increasingly evident that the cerebellum plays a substantial role in cognitive and affective processing. A 44-year-old female patient presented with a 1-month history of depression and flat affect. She had no cerebellar symptoms including no coordination dysfunction or dysarthria. Cognitive function tests revealed impairments in attention, execution, and processing speed. Hamilton Depression Scale and Hospital Anxiety Depression Scale indicated moderate-to-severe depression. Magnetic resonance (MR) imaging revealed a 7-mm enhancing lesion in the culmen of the cerebellar vermis with surrounding edema. Technetium-99m ethyl cysteinate dimer single-photon emission tomography (SPECT) showed hypoperfusion in the left frontal lobe. Although she was initially treated with corticosteroids for presumed sero-negative autoimmune encephalitis, her symptoms persisted. She then underwent cerebellar lesion resection. The histologic diagnosis was hemangioblastoma. The patient's symptoms dramatically improved within 1 week of resection, including improved batteries for cognitive function and depression. Complete regression of cerebellar edema and left frontal lobe hypoperfusion was observed on MR and SPECT images, respectively. This case reiterates the crucial influence of the cerebellum on cognitive and affective function. Moreover, cognitive dysfunction may be masked in cases with focal cerebellar symptoms or elevated intracranial pressure and, consequently, not adequately evaluated.