Background: Preliminary studies have supported the utility of exercise as a treatment for Charcot–Marie–Tooth disease (CMT) patients. Despite being the most common inherited neuropathy, there remains a paucity of guidelines for CMT management. Methods: A retrospective chart review was performed on 297 CMT patients. Self-reported exercise and strength results from standardized dynamometer testing were obtained from adult patients’ first visits. Values were converted and analyzed based on previously reported age- and sex-matched normative values. Results: Participants with CMT2 had greater strength values than those with CMT1 in hand grip, elbow flexion, and dorsiflexion (p<0.05). Participants with CMT1 and CMT2 who exercised were statistically significantly stronger in elbow flexion and dorsiflexion than those who did not exercise. Conclusions: These preliminary results suggest that self-directed exercise is associated with greater strength in CMT patients of both CMT1 and CMT2 subtypes. Self-directed exercise may be a convenient, sustainable, and effective method of improving strength and decreasing disability in this population. Future research should explore the type of exercise prescription that best addresses the needs of the CMT population.

We experienced two cases in which aneurysm clips sprang from the applier. In case 1, a subdural haematoma from a ruptured anterior cerebral artery aneurysm was detected. When the clip was opened for final positioning, it suddenly sprang from the applier and ruptured the aneurysm. In case 2, the clip suddenly sprang from the applier as the surgeon opened the applier to clip an unruptured anterior cerebral aneurysm. These accidental phenomena are rare but dangerous. We present these cases to help prevent similar occurrences in the future. Video recordings of actual procedures can point to potential mechanisms and help reduce the incidence of this complication.

Background: Insular cortex involvement as a part of epileptogenic zone is often suspected in the context of operculo-insular semiology and can be confirmed by routine interrogation of the insula with stereo-electroencephalography (SEEG). However the safety and efficacy of insular resections remains unclear. Methods: We reviewed all the patients who underwent insular resection for drug-resistant epilepsy, from 2002 – 2016, in the Calgary Epilepsy Program. Details of the comprehensive pre-surgical evaluation, surgery performed, complications and seizure outcome at the latest follow-up were collected. Results: Fifteen patients (8 males, 7 females) with age range 3 – 41 years were identified. MRI was normal in 9 patients. The decision to resect the Insula was made based on clinical semiology and structural and functional imaging in 6 patients and on SEEG findings in 9 patients. Insular resection was total in 11 and partial in 4 patients. Four (26%) patients had transient hemiparesis and 1 patient had permanent mild upper extremity weakness following total resection. After a mean follow-up period of 45.6 months (range 2 – 150 months), 40% of the patients are seizure free. Conclusions: Insular cortex resections for drug resistant epilepsy can be performed safely and may contribute to additional effectiveness in seizure outcomes in patients with challenging extra-temporal epilepsy.

Background: Neurofibromatosis type 1 (NF1) is a common single-gene disorder. A multidisciplinary approach to the management of NF1 patients is necessitated by the heterogeneity of clinical manifestations. Although multidisciplinary paediatric clinics have been well established, there is a dearth of such resources for adults with NF1. Herein we report our one-year institutional experience with a multidisciplinary adult NF1 clinic. Methods: A multidisciplinary team was assembled, and an NF Patient Registry Initiative questionnaire was adapted to collect patient-reported data during clinics. Multiple databases were searched to identify publications pertaining to the experience of other multidisciplinary NF1 clinics focusing on adult patients. Data on patient epidemiology and clinical staff were compared to our data. Results: A total of 77 patients were scheduled, and 68 attended the clinic, of whom 66 completed the intake questionnaire. The demographic and clinical data from this Canadian population are mostly consistent with previous reports, with some exceptions. Clinical data related to immune system involvement such as asthma, airway/breathing-related difficulties or allergies were striking in our NF1 population. Six relevant published reports of other NF1 clinics were identified. Reports from these studies pertained to periods ranging from 10 to 38 months, and the number of adults assessed ranged from 19 to 177 patients. Conclusions: The structure of our clinic and the patient volume are comparable to those of other established centres found in the literature. Our data offer valuable cross-sectional prevalence statistics in the Canadian population. The patient-reported data concerning involvement of the immune system contribute to an emerging recognized medical concern within the NF1 population and warrant further clinical and basic investigation.

Background: We published the world’s first case of hemi-laryngpharyngeal spasm (HELPS) syndrome cured by microvascular decompression (MVD) of the Xth cranial nerve in 2016. We now present a small cohort of patients (n=3) successfully treated with surgery in order to better delineate the common characteristics of this syndrome, diagnostic tests of choice, nuances of their surgical care and outcomes of their treatment. Methods: The history and physical examination of three patients with HELPS syndrome are presented. Pre-operative laryngoscopy, neuroimaging, response to botox and intra-operative videos are detailed. Post-operative outcome and complications are presented. Results: Each patient reported similar motor (choking) and sensory (coughing) features in their history. Episodic choking relentlessly progressed over the years until it occurred while sleeping and with frightening severity prompting tracheostomy in one patient and intubation in another. A “tickling” sensation deep in the throat triggered episodic coughing that worsened over the years until it occurred while sleeping and with frightening severity (syncope and incontinence). Conclusions: A review of the literature suggests that patients with similar symptoms, often called episodic laryngospasm in the past, have been treated with psychotherapy or antacids. With the recognition that a clearly defined subset of these patients have HELPS syndrome, we can offer them the potential of a neurosurgical cure.

Absence of the cervical pedicle is a very rare congenital anomaly, easily misrecognized as a unilateral facet dislocation in a setting of acute trauma or a neoplastic process like a nerve sheath tumor. Although correct diagnosis can be achieved on the cervical radiograph and confirmed by the CT, MRI Myelography is clearly of additional value because shows the specific relationship and orientation of the nerve roots. To the best to our knowledge, this is the first description of MR Myelography findings.

Decompressive craniectomy (DC) after devastating brain injury (DBI) may influence the manner in which patients die, having implications for end-of-life care and organ donation. We performed a retrospective review of deaths following a non-traumatic DBI between 2008 and 2012. 160 patients were reviewed; 26 were treated with DC and 134 received standard care. There was no relationship between DC and mechanism of death, (OR 1.18, 95% CI 0.44-3.17). Prospective studies are required to confirm these preliminary finding. DC studies should report the mechanism of death.