Proceedings of the first global meeting of the Posterior Fossa Society: state of the art in cerebellar mutism syndrome.

PURPOSE: The Posterior Fossa Society, an international multidisciplinary group, hosted its first global meeting designed to share the current state of the evidence across the multidisciplinary elements of pediatric post-operative cerebellar mutism syndrome (pCMS). The agenda included keynote talks from world-leading speakers, compelling abstract presentations and engaging discussions led by members of the PFS special interest groups. METHODS: This paper is a synopsis of the first global meeting, a 3-day program held in Liverpool, England, UK, in September 2022. RESULTS: Topics included nosology, patient and family experience, cerebellar modulation of cognition, and cerebellar cognitive affective syndrome. In addition, updates from large-scale studies were shared as well as abstracts across neuroradiology, neurosurgery, diagnosis/scoring, ataxia, and rehabilitation. CONCLUSIONS: Based on data-driven evidence and discussions, each special interest group created research priorities to target before the second global meeting, in the spring of 2024.

Catatonia associated with pediatric postoperative cerebellar mutism syndrome.

OBJECTIVE: To ascertain the presence of catatonia in cases of pediatric postoperative cerebellar mutism syndrome (PPCMS). METHOD: A systematic review of PPCMS case reports of patients aged 0-17 years with sufficient clinical information to extract catatonic phenomena was undertaken following PRISMA guidelines. Standardized catatonia rating scales were applied to selected cases retrospectively to ascertain whether diagnostic criteria for catatonia were met. A case known to the authors is also presented. RESULTS: Two hundred twenty-one suitable full-text articles were identified. Following screening and application of inclusion criteria, 51 articles were selected plus seven more from their references, reporting on 119 subjects. All cases met Bush and Francis (BF) diagnostic criteria for catatonia, 92.5% Pediatric Catatonia Rating Scale (PCRS), 52.9% ICD-11, and 44.5% DSM-5. All patients presented with mutism. The next most frequent signs were immobility/stupor (77.3%), withdrawal (35.3%), mannerisms (23.5%), and excitement/agitation (18.5%). Most cases presented with stuporous catatonia (75.6%). Catatonia most frequently occurred following resection of medulloblastoma (64.7%). Preoperative hydrocephalus occurred in 89 patients (74.8%). CONCLUSION: Catatonia was frequent in this PPCMS sample, with a predominant stuporous variant; it should be considered in patients with PPCMS and assessed with reliable and validated instruments for prompt diagnosis and management.

Language outcomes in children who underwent surgery for the removal of a posterior fossa tumor: A systematic review.

BACKGROUND: Children who underwent posterior fossa tumor removal may have spoken or written language impairments. The present systematic review synthesized the literature regarding the language outcomes in this population. Benefits of this work were the identification of shortcomings in the literature and a starting point toward formulating guidelines for postoperative language assessment. METHODS: A systematic literature search was conducted, identifying studies with patients who had posterior fossa surgery before 18 years of age. Included studies were narratively synthesized to understand language outcomes by language function (e.g., phonology, morphosyntax) at a group and individual level. Furthermore, the influence of several mediators (e.g., postoperative cerebellar mutism syndrome (pCMS), tumor type) was investigated. A critical evaluation of the language assessment tools was conducted. RESULTS: The narrative synthesis of 66 studies showed that a broad spectrum of language impairments has been described, characterized by a large interindividual heterogeneity. Patients younger at diagnosis, receiving treatment for a high-grade tumor and/or radiotherapy and diagnosed with pCMS seemed more prone to impairment. Several gaps in language assessment remain, such as a baseline preoperative assessment and the assessment of pragmatics and morphosyntax. Further, there were important methodological differences in existing studies which complicated our ability to accurately guide clinical practice. CONCLUSION: Children who had posterior fossa surgery seem to be at risk for postoperative language impairment. These results stress the need for language follow-up in posterior fossa tumor survivors.

Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome.

Hydrocephalus is rarely described in Joubert-Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center, Sourasky Medical Center, and EB's personal collection were reviewed. Records from an additional family were obtained from RG. The patients' medical records, prenatal ultrasounds, and magnetic resonance imaging were assessed. In addition, we reviewed the medical literature for the association of ventriculomegaly/hydrocephalus (VM/HC) in JBTS. Only seven cases (from five families) were found with prenatal onset of VM/HC, diagnosed during the second trimester; three pregnancies were terminated, one was stillborn and three were born, of which one died within a week, and another died at the age of 6 years. Additional central nervous system findings included dysgenesis of the corpus callosum, delayed sulcation, polymicrogyria, and pachygyria. We found 16 publications describing 54 patients with JBTS and VM/HC: only five were diagnosed at birth and three were diagnosed prenatally. Hydrocephalus is extremely rare in JBTS. The recurrence of this association, reported in several publications in multiple family members, suggests that it might represent a new phenotypic subtype of JBTS possibly associated with specific genes or variants. Further genetic studies are needed to confirm this hypothesis. WHAT THIS PAPER ADDS: The association of fetal hydrocephalus with Joubert-Boltshauser syndrome (JBTS) is very rare but not a chance association. This association represents a new phenotypic subtype of JBTS possibly linked to specific genes or variants.

Rupture of a flow aneurysm secondary to spontaneous extracranial to intracranial revascularisation in the posterior fossa following radiation-induced vasculopathy for cerebellar tumour.

Paediatric patients receiving cranial irradiation therapy for brain tumours are at increased risk of cerebrovascular complications. Radiation-induced moyamoya syndrome (MMS) is a well-recognised complication of this. We present a case of an 8-year-old boy with a history of medulloblastoma, who underwent surgical excision followed by post-operative adjuvant oncological treatment. Six years later, he developed cerebellar/intraventricular haemorrhage. He underwent an emergency external ventricular drain (EVD) insertion followed by posterior fossa suboccipital craniotomy. On dural opening, an abnormal vessel was visualised on the surface of the right cerebellar hemisphere, which was not disturbed. No obvious abnormalities were identified intra-operatively. Cerebral catheter angiography confirmed the presence of a right-sided occipital artery (OA) to posterior inferior cerebellar artery (PICA) extracranial to intracranial (EC-IC) bypass with a zone of the distal PICA territory supplied by this EC-IC bypass. A presumed flow aneurysm originated from the bypass in the distal PICA, identified as cause for the haemorrhage. We highlight a rare cause for intracranial haemorrhage in this cohort of patients. Children who have undergone radiotherapy may have exquisitely sensitive cerebral vasculature and need careful vigilance and evaluation for vasculopathic complications following spontaneous haemorrhage.

Cerebellar mutism is linked to midbrain volatility and desynchronization from speech cortices.

Cerebellar mutism syndrome is a disorder of speech, movement and affect that can occur after tumour removal from the posterior fossa. Projections from the fastigial nuclei to the periaqueductal grey area were recently implicated in its pathogenesis, but the functional consequences of damaging these projections remain poorly understood. Here, we examine functional MRI data from patients treated for medulloblastoma to identify functional changes in key brain areas that comprise the motor system for speech, which occur along the timeline of acute speech impairment in cerebellar mutism syndrome. One hundred and twenty-four participants, all with medulloblastoma, contributed to the study: 45 with cerebellar mutism syndrome, 11 patients with severe postoperative deficits other than mutism, and 68 without either (asymptomatic). We first performed a data-driven parcellation to spatially define functional nodes relevant to the cohort that align with brain regions critical for the motor control of speech. We then estimated functional connectivity between these nodes during the initial postoperative imaging sessions to identify functional deficits associated with the acute phase of the disorder. We further analysed how functional connectivity changed over time within a subset of participants that had suitable imaging acquired over the course of recovery. Signal dispersion was also measured in the periaqueductal grey area and red nuclei to estimate activity in midbrain regions considered key targets of the cerebellum with suspected involvement in cerebellar mutism pathogenesis. We found evidence of periaqueductal grey dysfunction in the acute phase of the disorder, with abnormal volatility and desynchronization with neocortical language nodes. Functional connectivity with periaqueductal grey was restored in imaging sessions that occurred after speech recovery and was further shown to be increased with left dorsolateral prefrontal cortex. The amygdalae were also broadly hyperconnected with neocortical nodes in the acute phase. Stable connectivity differences between groups were broadly present throughout the cerebrum, and one of the most substantial differences-between Broca's area and the supplementary motor area-was found to be inversely related to cerebellar outflow pathway damage in the mutism group. These results reveal systemic changes in the speech motor system of patients with mutism, centred on limbic areas tasked with the control of phonation. These findings provide further support for the hypothesis that periaqueductal grey dysfunction (following cerebellar surgical injury) contributes to the transient postoperative non-verbal episode commonly observed in cerebellar mutism syndrome but highlights a potential role of intact cerebellocortical projections in chronic features of the disorder.

Cerebellar mutism syndrome of non-tumour surgical aetiology-a case report and literature review.

Cerebellar mutism syndrome (CMS) is a well-known complication of posterior fossa (PF) tumour surgery. CMS has previously been reported in cases of non-tumour surgical aetiology in a limited number of publications. We report a case of a 10-year-old girl who suffered a cerebellar haemorrhage and subsequent CMS following surgical treatment of a ruptured arteriovenous malformation (AVM) in the cerebellar vermis. The AVM was removed acutely through a transvermian access, and hydrocephalus was treated with temporary external drainage. In the postoperative period, she suffered diffuse vasospasms of the anterior cerebral circulation and had a permanent shunt placed for hydrocephalus. Her mutism resolved after 45 days but severe ataxia persisted. To our knowledge, this is the first reported case of CMS related to a vermian haemorrhagic stroke with postoperative diffuse vasospasms. Based on this case, we present a literature review on CMS of non-tumour surgical origin in children.

A cerebellar degeneration-related protein 2-like cell-based assay for anti-Yo detection in patients with paraneoplastic cerebellar degeneration.

BACKGROUND AND PURPOSE: Commercially available tests for Yo antibody detection have low specificity for paraneoplastic cerebellar degeneration (PCD) because these assays use cerebellar degeneration-related protein 2 (CDR2) as the antigen, not CDR2-like (CDR2L). We aimed to test the hypothesis that use of a CDR2L cell-based assay (CBA), as an additional screening technique, would increase the accuracy of Yo-PCD diagnosis. METHODS: An in-house CBA to test for anti-CDR2L antibodies was developed and used to screen sera from 48 patients with confirmed anti-Yo-associated PCD. Fifteen non-Yo PCD patients, 22 patients with ovarian cancer without neurological syndromes, 50 healthy blood donors, 10 multiple sclerosis, 15 Parkinson's disease, and five non-paraneoplastic ataxic patients were included as controls. Sera were also tested by western blot analysis using recombinant CDR2 and CDR2L proteins developed in house, by the commercially available line immunoassays from Ravo Diagnostika and Euroimmun, and by the CDR2 CBA from Euroimmun. RESULTS: The CDR2L CBA identified all 48 patients with Yo-PCD. No CDR2L CBA reaction was observed in any of the control sera. The western blot technique had lower sensitivity and specificity as sera from eight and six of the 48 Yo-PCD patients did not react with recombinant CDR2 or CDR2L, respectively. CONCLUSIONS: The CDR2L CBA is highly reliable for identification of Yo-PCD. Although our findings indicate that, currently, the combination of CDR2 and CDR2L yields the most reliable test results, it remains to be evaluated if a test for single anti-CDR2L positivity will serve as a sufficient biomarker for Yo-PCD diagnosis.

Fastigial nuclei surgical damage and focal midbrain disruption implicate PAG survival circuits in cerebellar mutism syndrome.

BACKGROUND: Pediatric postoperative cerebellar mutism syndrome (CMS) is a rare but well-known complication of medulloblastoma (Mb) resection with devastating effects on expressive language, mobility, cognition, and emotional regulation that diminishes quality of life for many Mb survivors. The specific anatomical and neuronal basis of CMS remains obscure. We address this issue by identifying patterns of surgical damage and secondary axonal degeneration in Mb survivors with CMS. METHODS: Children with Mb deemed high risk for CMS based on intraventricular location of the tumor had T1 images analyzed for location(s) of surgical damage using a specially developed algorithm. We used three complementary methods of spatial analysis to identify surgical damage linked to CMS diagnosis. Magnetization transfer ratio (MTR) images were analyzed for evidence of demyelination in anatomic regions downstream of the cerebellum, indicating neuronal dysfunction. RESULTS: Spatial analyses highlighted damage to the fastigial nuclei and their associated cerebellar cortices as the strongest predictors of CMS. CMS-related MTR decrease was greatest in the ventral periaqueductal gray (PAG) area and highly consistent in the left red nucleus. CONCLUSION: Our evidence points to disruption of output from the fastigial nuclei as a likely causal trigger for CMS. We propose that core CMS symptoms result from a disruption in the triggering of survival behaviors regulated by the PAG, including the gating of vocalization and volitional movement. The fastigial nuclei provide the densest output to the PAG from the cerebellum, thus sparing these structures may provide a greater likelihood of CMS prevention.

Male Predisposition in Cerebellar Mutism Syndrome: a Cohort Study.

The aim of this study was to explore the association between sex and cerebellar mutism syndrome and to examine other potential risk factors. This ambispective cohort study examined 218 pediatric patients (132 boys) with a posterior fossa tumor who underwent tumor resection from July 2013 to March 2021. The patients' demographics and tumor characteristics were examined and statistically analyzed to explore the associations among the variables. Multivariable and subgroup analyses were conducted to validate the independent risk factors for cerebellar mutism syndrome (CMS). The male and female patients did not differ significantly in terms of age, tumor size, tumor location, tumor consistency, VP shunt placement before resection, extent of resection, or surgeon, as well as with respect to the presence of hydrocephalus or paraventricular edema. The overall incidence of CMS was 32.6%. The incidence of CMS was significantly higher in male patients than that in female patients (41.7% vs. 18.6%; P = 0.001). In the multivariable analysis, male sex (adjusted odds ratio [OR], 3.27; P = 0.001), solid tumor consistency (adjusted OR, 5.61; P = 0.001), midline location (adjusted OR, 3.78; P = 0.004), and hydrocephalus (adjusted OR, 2.56; P = 0.047) were independent risk factors for the CMS. Chi-square analysis revealed that solid tumor consistency and midline location were associated with medulloblastoma (P < 0.001). Male patients had a higher risk of developing CMS after a posterior fossa tumor resection. Midline location, solid tumor consistency, and hydrocephalus were independent risk factors for CMS.

Cerebellar hemorrhage in a healthy young adult: a case report.

BACKGROUND: Cavernous venous malformation is an uncommon entity that occurs in around 0.5% of the general population. Cerebellar cavernous venous malformation accounts for 1.2-11.8% of intracranial cavernous venous malformation cases. Patients are commonly asymptomatic until a hemorrhage occurs. In approximately 20% of the cases, cavernous venous malformation and developmental venous anomalies occur together, called mixed vascular malformation. Our case report reveals the imaging features of the mixed vascular malformation and highlights the appropriate imaging modality and sequence to detect the abnormalities. CASE PRESENTATION: We report the case of a 15-year-old Malay male, a healthy young male who presented with dizziness, vomiting, and mild headache for 1 month. Computed tomography brain imaging at presentation revealed cerebellar hemorrhage with multiple cavernous venous malformation and coexisting developmental venous anomalies, which was then confirmed by magnetic resonance imaging. The patient was started on dexamethasone 4 mg four times a day, observed in the ward, and discharged well without neurological sequelae. CONCLUSION: A cavernous malformation with concurrent developmental venous anomalies requires accurate diagnosis. Our case report contributes to the literature on the imaging diagnosis of this disease, which is beneficial for current and future reference.

Postoperative MRI features of cerebellar mutism syndrome: a retrospective cohort study.

OBJECTIVE: In this study, the authors aimed to investigate the relationship between postoperative MRI features and cerebellar mutism syndrome. METHODS: A retrospective cohort of patients who underwent tumor resection from July 2013 to March 2021 for midline posterior fossa tumors was investigated. All patients were followed up at least once. Clinical data were extracted from medical records and follow-up databases. Two neuroradiologists independently reviewed preoperative and postoperative MRI. Univariable and multivariable analyses were performed to compare the postoperative cerebellar mutism syndrome (pCMS) and non-pCMS groups. Correlation analysis was performed using the Spearman correlation coefficient analysis. RESULTS: Of 124 patients, 47 (37.9%) developed pCMS. The median follow-up duration was 45.73 (Q1: 33.4, Q3: 64.0) months. The median duration of mutism was 45 days. The median tumor size was 48.8 (Q1: 42.1, Q3: 56.8) mm. In the univariable analysis, abnormal T2-weighted signal of the left dentate nucleus (DN) (74.5% in the pCMS group vs 36.4% in the non-pCMS group, p < 0.001), right DN (83.0% vs 40.3%, p < 0.001), left superior cerebellar peduncle (SCP) (74.5% vs 27.3%, p < 0.001), right SCP (63.8% vs 23.4%, p < 0.001), left middle cerebellar peduncle (MCP) (51.1% vs 26.0%, p = 0.008), and right MCP (61.7% vs 26.0%, p < 0.001); male sex (83.0% vs 45.5%, p < 0.001); vermis 3 impairment (49.4% vs 19.1%, p = 0.002); solid tumor (91.5% vs 72.7%, p = 0.022); and hydrocephalus (72.3% vs 45.5%, p = 0.006) were more frequent in the pCMS group than in the non-pCMS group. Multivariable logistic analysis showed that male sex (adjusted OR 4.08, p = 0.010) and the cerebro-cerebellar circuit score of T2-weighted images (adjusted OR 2.15, p < 0.001) were independent risk factors for pCMS. The cerebro-cerebellar circuit score positively correlated with the duration of mutism. In Cox regression analysis, the cerebro-cerebellar integrated circuit injury score of T2 (adjusted HR 0.790, 95% CI 0.637-0.980; p = 0.032) and injury of vermis 3 (adjusted HR 3.005, 95% CI 1.197-7.547; p = 0.019) were independently associated with the duration of mutism. CONCLUSIONS: Male sex and cerebro-cerebellar circuit damage are independent risk factors for pCMS. The cerebro-cerebellar circuit score indicates the duration of mutism.

The Yin and Yang of Operating on a Posterior Fossa Meningioma: The Schmahmann Syndrome.

The cerebellum is classically linked with control of motor function, such as coordination, balance, and regulation of movement. There is an increasing awareness, now, of the non-motor functions of the cerebellum, and the occurrence of behavioral anomalies with cerebellar disorders. We present the first report of Schmahmann syndrome (cerebellar cognitive affective syndrome [CCAS]) occurring secondary to posterior fossa meningioma excision. A 35-year-old lady with a posterior fossa meningioma developed an infarct of the right posterosuperior cerebellar hemisphere and ipsilateral superior vermis, following suboccipital craniotomy and tumor resection. Few days after the surgery, she presented with aggressive and emotional behavior, irrelevant talk, and emotional lability. The CCAS scale was administered, and she scored poorly on almost all parameters. A neuropsychological evaluation was also done. The occurrence of CCAS, posterior fossa syndrome (PFS), and behavioral abnormalities like abnormal pathological laughter/crying provides further clinical evidence of the "affective" functions of the cerebellum, modulated mainly by the posterior lobe and vermis of the cerebellum.

Left-handedness should not be overrated as a risk factor for postoperative speech impairment in children after posterior fossa tumour surgery: a prospective European multicentre study.

PURPOSE: Cerebellar mutism syndrome (CMS) is a severe neurological complication of posterior fossa tumour surgery in children, and postoperative speech impairment (POSI) is the main component. Left-handedness was previously suggested as a strong risk factor for POSI. The aim of this study was to investigate the relationship between handedness and the risk of POSI. METHODS: We prospectively included children (aged < 18 years) undergoing surgery for posterior fossa tumours in 26 European centres. Handedness was assessed pre-operatively and postoperative speech status was categorised as either POSI (mutism or reduced speech) or habitual speech, based on the postoperative clinical assessment. Logistic regression was used in the risk factor analysis of POSI as a dichotomous outcome. RESULTS: Of the 500 children included, 37 (7%) were excluded from the present analysis due to enrolment at a reoperation; another 213 (43%) due to missing data about surgery (n = 37) and/or handedness (n = 146) and/or postoperative speech status (n = 53). Out of the remaining 250 (50%) patients, 20 (8%) were left-handed and 230 (92%) were right-handed. POSI was observed equally frequently regardless of handedness (5/20 [25%] in left-handed, 61/230 [27%] in right-handed, OR: 1.08 [95% CI: 0.40-3.44], p = 0.882), also when adjusted for tumour histology, location and age. CONCLUSION: We found no difference in the risk of POSI associated with handedness. Our data do not support the hypothesis that handedness should be of clinical relevance in the risk assessment of CMS.

A case of postoperative cerebellar mutism with hyperphagia in a child following gross total resection of medulloblastoma occupying the cerebellar vermis.

INTRODUCTION: Cerebellar mutism syndrome is a well-known complication following posterior fossa tumor resection. Its incidence is markedly increased among patients with medulloblastoma. Patients typically present with an inability to communicate verbally due to disruption of the dentato-thalamocortical pathway. CASE DESCRIPTION: We present a unique case of cerebellar mutism in a three-year-old girl who underwent gross total resection of medulloblastoma occupying the cerebellar vermis. In addition to mutism, the patient developed hyperphagia. DISCUSSION: This case report aims to contribute to current understanding of the role of cerebello-hypothalamic connections in cerebellar mutism and their clinical significance.

Cerebellar Mutism Syndrome in Pediatric Neuro-oncology: A Multidisciplinary Perspective and Call for Research Priorities.

Cerebellar mutism syndrome (CMS), also known as posterior fossa syndrome, occurs in a subset of children after posterior fossa tumor resection, most commonly medulloblastoma. Patients with this syndrome exhibit often transient, although protracted, symptoms of language impairment, emotional lability, cerebellar, and brainstem dysfunction. However, many patients experience persistent neurological deficits and lasting neurocognitive impairment. Historically, research and clinical care were hindered by inconsistent nomenclature, poorly defined diagnostic criteria, and uncertainty surrounding risk factors and etiology. Proposed diagnostic criteria include two major symptoms, language impairment and emotional lability, as proposed by the international Board of the Posterior Fossa Society in their consensus statement as well as other experts in this field. Risk factors most commonly associated with development of CMS include midline tumor location, diagnosis of medulloblastoma and specific tumor subtype, younger age at diagnosis, and preoperative language impairment. A proposed etiology of CMS includes disruption of the cerebellar outflow tracts, the cerebellar nuclei, and their efferent projections through the superior cerebellar peduncle. Treatment for CMS remains supportive. Herein, we present a comprehensive overview of CMS etiology, diagnosis, risk factors, clinical presentation, and clinical management. In addition, we identify essential multidisciplinary research priorities to advance diagnostics, prevention, and intervention efforts for patients with, or at risk for, development of CMS.

Cerebellar Mutism Syndrome in Children After Surgery for a Posterior Fossa Tumor: Patient Characteristics and Recovery.

Background: Cerebellar mutism syndrome (CMS) is a potential complication that may be experienced by children undergoing a resection of a posterior fossa tumor. Symptoms include mutism and emotional lability; additional symptoms may include hypotonia, difficulty swallowing, ataxia, and changes in cognition. The recovery of children experiencing CMS symptoms can be variable. In this retrospective chart review study, we identified the presenting characteristics of CMS in a cohort of children and compared them to matched-controls who did not develop CMS and examined recovery patterns during the year after diagnosis. Methods: Patients were identified through the program database. Children between ages 3 and 18 years who had a craniotomy for a posterior fossa tumor at our institution were included. For each CMS case, two control cases were selected to match the type of central nervous system tumor, sex, age group, and surgery date. Patient characteristics were abstracted from the patient's electronic medical record and the CMS survey was used to score CMS cases. Results: Seventeen children with CMS and 34 children without CMS were included in the review. Among children with CMS, 53% experienced mutism for less than 4 weeks; ataxia persisted beyond 4 weeks for more than 88% of the children and was still present in 71% 1 year after diagnosis. Clinical characteristics did not differ between the case and control groups. Discussion: CMS symptoms interfere with the child's quality of life and ongoing development. Study findings inform nurses providing anticipatory guidance and support to patients experiencing CMS and their families.

Cerebellar mutism syndrome: the importance of preoperative language assessment.

Children undergoing surgical removal of tumors in the posterior cranial fossa can encounter a varied and complex constellation of neurological symptoms, called cerebellar mutism, defined as a disturbance in the planning and programming of motor language with preserved understanding, behavioral disorders such as inattention, visual-spatial disorganization, personality change, as well as ataxia and dysmetria. In the last years, several groups have been trying to establish risk factors or even predictive scores in order to be able at least in part to predict the appearance of speech disorders before surgery. We report on a child with pilocytic astrocytoma of the cerebellar vermis who had already been diagnosed with developmental linguistic delay two years earlier. This disorder initially worsened after surgery and later improved in the following 12 months. The aim of this paper is to emphasize the importance of preoperative neuropsychological evaluation. The present case, along with those reported in the literature, suggests that the risk of long-term cerebellar mutism is higher in children with preoperative speech disorders. In these patients a thorough assessment of cognitive and linguistic functions is therefore necessary to better evaluate the risk of cerebellar mutism after surgery.

Cerebellar mutism syndrome in pediatric head trauma with cerebellar injury.

PURPOSE: Cerebellar mutism syndrome (CMS) after cerebellar injury in pediatric head trauma is a poorly recognized condition that is not properly diagnosed or treated in our daily practice. We aimed to clinically identify this syndrome after isolated posttraumatic cerebellar injury and to propose pathophysiological explanation. METHODS: We retrospectively analyzed 8 consecutive children presenting with isolated cerebellar injury over 16 years. Clinical presentation, radiological type and localization of injury, clinical initial CMS symptoms, and long-term neurocognitive outcome were reviewed. RESULTS: Out of 8 patients presenting with isolated traumatic cerebellar injury, we diagnosed 2 cases with initial clinical symptoms of CMS. Both patients had an injury damaging median structures of the posterior fossa, especially the fourth ventricle and dentate nuclei. Initial symptoms lasted more than 1 month for one patient, who still presented concentration difficulties almost 1 year after the head injury. CONCLUSION: CMS after traumatic cerebellar injury does exist, even if it seems to be a very rare entity. It has to be better detected and studied in order to enrich pathophysiological knowledge about CMS of all etiologies and to bring our concerned patients the suitable follow-up and rehabilitative care that they could benefit from.

Cerebellar cognitive affective syndrome due to cerebellar atrophy: case report / Síndrome cerebelar cognitivo-afetiva secundária à atrofia cerebelar: relato de caso

Cerebellar atrophy is a rare and challenging disease with few descriptions in the medical literature. Motor impairment is mild, but behavioral and linguistic alterations stand out, in what is known as the cerebellar cognitive affective syndrome secondary to cerebellar atrophy. We report the case of an older woman with early-onset (age 45) signs and symptoms of this syndrome, including impairment of executive functions and visuospatial cognition, personality changes, and language deficits, who was followed at a geriatric medical center for 14 years. Neuropsychological, imaging, and behavioral aspects during this period are discussed in light of scientific evidence. This case report contributes to the scientific literature by describing the progression of the signs and symptoms of cerebellar atrophy over the years, which can help guide medical management and support advice for patients and their families.

A atrofia cerebelar é uma doença rara, desafiadora e com poucas descrições na literatura médica. O prejuízo motor é discreto, mas as alterações comportamentais e de linguagem se destacam, caracterizando a síndrome cognitivo-afetiva cerebelar secundária à atrofia cerebelar. Apresentamos o relato de caso de uma paciente idosa, que apresentou sinais e sintomas dessa síndrome precocemente (aos 45 anos de idade) ­ tais como déficits na função executiva, prejuízo visuoespacial, alterações de personalidade e déficits de linguagem ­ e foi acompanhada em um centro médico geriátrico por um período de 14 anos. Aspectos neuropsicológicos, de imagem e comportamentais durante esse período são comentados à luz das evidências científicas. O caso relatado contribui com a literatura científica ao descrever a evolução dos sinais e sintomas da atrofia cerebelar ao longo dos anos, balizando as condutas médicas e amparando as orientações ao paciente e seus familiares.