REhabilitation Approaches in CHildren with cerebellar mutism syndrome (REACH): An international cross-disciplinary survey study.

OBJECTIVE: Pediatric cerebellar mutism syndrome (pCMS) can occur following resection of a posterior fossa tumor and, although some symptoms are transient, many result in long-lasting neurological deficits. A multi-disciplinary rehabilitation approach is often used in cases of pCMS; however, there have been no clinical trials to determine gold standards in rehabilitation practice in this population, which remains a research priority. The purpose of this study was to identify and compare intervention practices used in pCMS throughout the disciplines of occupational and physical therapy, speech-language pathology, and neuropsychology across geographic regions. METHODS: A 55-question e-survey was created by an international multidisciplinary research group made up of members of the Posterior Fossa Society and sent to rehabilitation professionals in pediatric neuro-oncology centers in the US, Canada, and Europe. RESULTS: Although some differences in the type of intervention used in pCMS were identified within each discipline, many of the targeted interventions including dose, frequency, and intensity were similar within disciplines across geographic regions. In addition, there were common themes identified across disciplines regarding challenges in the rehabilitation of this population. CONCLUSION: These results provide a foundation of current practices on which to build future intervention-based clinical trials.

Perioperative Assessment of Cerebellar Masses and the Potential for Cerebellar Cognitive Affective Syndrome.

The cerebellum was long perceived to be a region of limited importance with primary functions in the regulation of motor control. A degree of its functional topography in motor modulation has been traditionally appreciated. However, an evolving body of evidence supports its role in a range of cognitive processes, including executive decision making, language, emotional processing, and working memory. To this end, numerous studies of cerebellar stroke syndromes as well as investigations with functional magnetic resonance imaging and diffusion tensor imaging have given clinicians a better model of the functional topography within the cerebellum and the essential lanes of communication with the cerebrum. With this deeper understanding, neurosurgeons should integrate these domains into the perioperative evaluation and postoperative rehabilitation of patients with cerebellar tumors. This review aims to discuss these understandings and identify valuable tools for implementation into clinical practice.

Rare case of paraneoplastic cerebellar degeneration secondary to high-grade serous carcinoma of tubo-ovarian origin.

This case describes a 69-year-old woman, who presented with rapidly progressive cerebellar symptoms and unintentional weight loss. Full neurological assessment excluded space-occupying lesions, vascular accidents and infection. Surprisingly, a chest, abdomen and pelvis CT showed a left hemipelvis mass, which was subsequently biopsied. A high-grade serous carcinoma of tubo-ovarian origin was found, diagnosing paraneoplastic cerebellar degeneration (PCD) secondary to this. The exact mechanism is not known, but is thought to be immune-mediated. In cases of PCD, after cancer treatment, the neurological disability stabilises to a severe level and will unfortunately be lifelong. Our patient continues to make great progress with intensive rehabilitation for her ongoing balance issues. Early recognition of PCD can lead to a prompt diagnosis of the underlying malignancy and hence subsequent management. This can at least limit the extent of the neurological disability of the disease and increase the survival rate from cancer.

Postoperative Pediatric Cerebellar Mutism After Posterior Fossa Surgery: A Case Report.

Cerebellar mutism syndrome (CMS) is a common complication of posterior fossa surgery that can confound the postanesthetic examination and have long-lasting impacts. There is confusion surrounding its precise description, diagnostic features, and associated morbidity. Here, we discuss the most up-to-date knowledge of CMS drawing from a clinical case in the context of 3 new reports: (1) an international consensus paper presenting a new proposed working definition by the Iceland Delphi Group, (2) a knowledge update by Gadgil et al, (3) and a review of neuroimaging-based data elucidating the etiology of CMS by Patay.

Cerebellar mutism syndrome: cause and rehabilitation.

PURPOSE OF REVIEW: Mutism of cerebellar origin may occur in the context of various causes but is most frequent in children after resection of a large midline cerebellar tumour. In this review, the endeavour to reach a consensus on name and definition of postoperative mutism of cerebellar origin and associated symptoms is highlighted. In addition, progress in understanding of cause and risk factors for the syndrome is discussed as well as the rehabilitation issues. RECENT FINDINGS: Consensus on the term cerebellar mutism syndrome (CMS) has been reached. The exact pathogenesis of CMS remains unclear. Recently, attention was drawn to the hypothesis that thermal injury might be an important mechanism in the pathogenesis of CMS. Diffusion tensor imaging tractography was found to visualize the damage to relevant pathways that are associated with persistent impairments after recovery of CMS. There is still no established treatment for CMS to date. SUMMARY: By reaching a consensus on terminology and description of CMS, a firm basis has been created for future research. The pathogenesis of CMS seems multifactorial and important risk factors have been found. However, CMS cannot be effectively prevented yet and no established or specific treatment is available, apart from very general rehabilitation and cognitive interventions.

Joubert syndrome: report of 11 cases.

Joubert syndrome (JS) is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. The 11 cases were searched according to their clinic, radiologic, and mutation analysis findings, according to which they were diagnosed as JS. Physical, neurological and fundus examinations were performed in all patients. Cerebral magnetic resonance imaging scan, abdominal ultrasonography, and if necessary, echocardiography were performed. CC2D2A and ARL13B mutations were analyzed in our 11 JS patients. The mean age was 31.09 ± 37.49 months (range: 1 month - 10 years). Two of the cases were siblings. Nine of the cases had a history of episodic hyperpnea. The other findings were hypotonia, ataxia, psychomotor retardation, and nystagmus. In all patients, the "molar tooth sign" was observed with scanning methods. In addition, cerebellar cortical dysplasia was established in one of the cases. Macrocephaly (1 patient), multiple renal cysts (1 patient), ocular coloboma (2 patients), ptosis (1 patient), congenital heart disease (1 patient), polydactyly (2 patients), and congenital hip dislocation (2 patients) were also determined. We identified mutation (c.C4452T → p.R1518W) in CC2D2A in two patients. JS can show heterogeneity clinically, neuroradiologically and genetically. Determination of the symptoms, early diagnosis and genetic consultation are the goals for decision-making to begin treatment and rehabilitation programs.

The pathophysiologic mechanism of cerebellar mutism.

OBJECTIVE: Cerebellar mutism (CM) is a postoperative complication of mainly pediatric posterior fossa surgery. Multiple theories exist for explaining this phenomenon. We have made an attempt to further understand this entity given a particularly interesting case as it relates to multiple pathophysiologic pathways. METHODS: We have reviewed the details surrounding a particularly interesting case of CM. A retrospective analysis of this patient's clinical history and recovery is described. An extensive literature review has been performed in conjunction with an attempt to help elucidate details and a better understanding of CM. RESULTS: A thorough analysis of existing theories as to the pathophysiologic mechanism of CM has been performed as it relates to the details of this particular case. A case is described in which a child exhibiting CM abruptly improved and made a relatively quick recovery after the triggering of the melodic speech pathway by way of watching and beginning to sing along with a video. It appears that this incident involving a familiar song catalyzed various speech pathways, which apparently were in some state of shock. This phenomenon seems to be a temporary entity involving not only the mechanical coordination of speech production, but also the initiation of speech itself. CONCLUSIONS: Evidence exists for a pathophysiologic pathway for speech by way of coordinating phonation and articulation. In addition, there seems to exist a pathway by which the initiation of speech may be altered or halted by posterior fossa pathology, namely, vermian or dentate nuclear injury. In particular to this case, we found that the incidental appreciation of other forms of speech, melodic in this instance, may be the key to help stimulate and accelerate the recovery from CM.

Surgical and medical management of patients with massive cerebellar infarctions: results of the German-Austrian Cerebellar Infarction Study.

Surgical intervention (ventricular drainage or decompressive craniotomy) may be necessary in patients with cerebellar infarction if mass effect develops. However, patient selection and timing of surgery remain controversial, and there are few data on clinical signs in the early course that are predictive for outcome. The clinical course and neuroradiological features of 84 patients (aged 22-78, mean 58.5 years) with massive cerebellar infarction confirmed by computed tomography were prospectively observed for 21 days after admission and at 3-month follow-up using a standardized protocol. Data were gathered from 1992 to 1996 in 17 centers. The patients were assigned to three treatment groups depending on the decision of the primary caretaker: 34 underwent craniotomy and evacuation, 14 received ventriculostomy, and 36 were treated medically. Treatment groups differed regarding the level of consciousness, signs of mass effect in computed tomography and signs of brainstem involvement. The overall risk for poor outcome depended on the level of consciousness after clinical deterioration (odds ratio = 2.8). Subgroup analysis of awake/drowsy or somnolent/stupor patients revealed no relationship to treatment. The vascular territory involved did not affect outcome. Surgical treatment for massive cerebellar infarctions was not found to be superior to medical treatment in awake/drowsy or somnolent/stupor patients. Half of all patients deteriorating to coma treated with ventricular drainage or decompressive craniotomy had a meaningful recovery. We were unable to compare surgical versus medical therapy in this subgroup due to lack of control group. This study supports the notion that the level of consciousness is the most powerful predictor of outcome, superior to any other clinical sign and treatment assignment. Deterioration of consciousness typically occurred between days 2 and 4, with a maximum on day 3.

Rehabilitation of balance in two patients with cerebellar dysfunction.

The treatment of two patients with cerebellar dysfunction is described. One patient was a 36-year-old woman with a 7-month history of dizziness and unsteadiness following surgical resection of a recurrent pilocystic astrocytoma located in the cerebellar vermis. The other patient was a 48-year-old man with cerebrotendinous xanthomatosis (CTX) and diffuse cerebellar atrophy, and a 10-year history of progressive gait and balance difficulties. Each patient was treated with a 6-week course of physical therapy that emphasized the practice of activities that challenged stability. The patient with the cerebellar tumor resection also performed eye-head coordination exercises. Each patient had weekly therapy and performed selected balance retraining exercises on a daily basis at home. Measurements taken before and after treatment for each patient included self-perception of symptoms, clinical balance tests, and stability during selected standing and gait activities; for the patient with the cerebellar tumor resection, vestibular function tests and posturography were also performed. Both patients reported improvements in symptoms and demonstrated similar improvements on several kinematic indicators of stability during gait. The patient with the cerebellar tumor resection improved on posturography following treatment, whereas the patient with CTX improved on clinical balance tests. This case report describes two individualized treatment programs and documents functional improvements in two patients with different etiologies, durations, and clinical presentations of cerebellar dysfunction. The outcomes suggest that patients with cerebellar lesions, acute or chronic, may be able to learn to improve their postural stability.

Paraneoplastic subacute cerebellar degeneration: functional improvement and the role of rehabilitation.

Paraneoplastic syndromes, or the remote effects of cancer on the nervous system, can result in significant functional impairment. One syndrome in particular, paraneoplastic subacute cerebellar degeneration (PSCD), may be severely disabling. Patients with PSCD can experience severe ataxia resulting in an inability to ambulate or perform their activities of daily living. Little has been written about the value of rehabilitation in cases of paraneoplastic syndrome. We report the case of a 51-year-old woman with PSCD who experienced improvements in all functional activities after comprehensive inpatient rehabilitation. She has maintained her improved functional status after discharge; her case is testimony to the value of rehabilitation in paraneoplastic syndrome.