A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review.

OBJECTIVE: Reporting a novel mutation in the HTRA1 gene in a CARASIL patient from Americas. METHODS: Clinical presentation and neuroimaging were consistent with CARASIL. HTRA1 DNA sequencing was performed using advanced ("next generation") sequencing technology. The results revealed a homozygous missense mutation as c.616G>A (p.Gly206Arg) in the HTRA1 gene. RESULTS: A 24-year-old man with a history of chronic back pain presented with recurrent ischemic strokes. A diagnosis of CARASIL was made with the finding of a novel homozygous missense mutation c.616G>A in HTRA1 gene, resulting in change from Glycine to Arginine in the Serine Protease HTRA1. Brain imaging showed multiple lacunar infarcts with extensive abnormalities of the white matter that spared the external capsules. He also had unilateral decreased hearing with craniofacial asymmetry. None of the above features have been previously described in known CARASIL patients. Both parents of the proband were heterozygous for the same missense mutation. CONCLUSION: We discovered a novel missense mutation (c.616G>A) associated with a phenotype of CARASIL. This is the first genetically backed case of CARASIL in the new world. The patient's craniofacial abnormalities, including asymmetry of the head, may be related to impaired modulation of transforming growth factor-ß1, the result of loss of proteolytic activity of HTRA1. External capsules remained unaffected, despite findings of advanced changes in the rest of the cerebral white matter. Literature is briefly reviewed. The patient's history, neurological exam, neuroimaging, and genetic testing are included.

Conscious sedation by sedation-trained interventionalists versus anesthesia providers in patients with acute ischemic stroke undergoing endovascular thrombectomy: A propensity score-matched analysis.

BACKGROUND: The appropriate choice of perioperative sedation during endovascular thrombectomy for ischemic stroke is unknown. Few studies have evaluated the role of nursing-administered conscious sedation supervised by a trained interventionalist. OBJECTIVE: To compare the safety and efficacy of endovascular thrombectomy for ischemic stroke performed with nursing-administered conscious sedation supervised by a trained interventionalist with monitored anesthesia care supervised by an anesthesiologist. METHODS: A retrospective review of a prospectively collected stroke registry was performed. The primary outcome was functional independence at 90 days, defined as a modified Rankin score of 0-2. Propensity score matching was performed to control for known confounders including patient comorbidities, access type, and direct-to-suite transfers. RESULTS: A total of 355 patients underwent endovascular thrombectomy for large vessel occlusion between 2018 and 2022. Thirty five patients were excluded as they arrived at the endovascular suite intubated. Three hundred and twenty patients were included in our study, 155 who underwent endovascular thrombectomy with nursing-administered conscious sedation and 165 who underwent endovascular thrombectomy with monitored anesthesia care. After propensity score matching, there were 111 patients in each group. There was no difference in modified Rankin score 0-2 at 90 days (26.1% vs 35.1%, p = 0.190). Patients undergoing monitored anesthesia care received significantly more vasoactive medications (23.4% vs 49.5%, p < 0.001) and had a lower intraoperative minimum systolic blood pressure (134 vs 123 mmHg, p < 0.046). There was no difference in procedural efficacy, safety, intubation rates, and postoperative complications. CONCLUSION: Perioperative sedation with nursing-administered conscious sedation may be safe and effective in patients undergoing endovascular thrombectomy for ischemic stroke.

Impact of COVID-19 Pandemic on the Incidence, Prehospital Evaluation, and Presentation of Ischemic Stroke at a Nonurban Comprehensive Stroke Center.

INTRODUCTION: Many reports have described a decrease in the numbers of patients seeking medical attention for typical emergencies during the COVID-19 pandemic. These reports primarily relate to urban areas with widespread community transmission. The impact of COVID-19 on nonurban areas with minimal community transmission is less well understood. METHODS: Using a prospectively maintained prehospital quality improvement database, we reviewed our hospital EMS transports with a diagnosis of stroke from January to April 2019 (baseline) and January to April 2020 (pandemic). We compared the volume of patients, transport/presentation times, severity of presenting symptoms, and final diagnosis. RESULTS: In January, February, March, and April 2019, 10, 11, 17, and 19 patients, respectively, were transported in comparison to 19, 14, 10, and 8 during the same months in 2020. From January through April 2019, there was a 53% increase in transports, compared to a 42% decrease during the same months in 2020, constituting significantly different trend-line slopes (3.30; 95% CI 0.48-6.12 versus -3.70; 95% CI -5.76--1.64, p = 0.001). Patient demographics, comorbidities, and symptom severity were mostly similar over the two time periods, and the number of patients with a final diagnosis of stroke was also similar. However, the median interval from EMS dispatch to ED arrival for patients with a final diagnosis of stroke was significantly longer in January to April 2020 (50 ± 11.7 min) compared to the same time period in 2019 (42 ± 8.2 min, p = 0.01). Discussion/Conclusion. Our data indicate a decrease in patient transport volumes and longer intervals to EMS activation for suspected stroke care. These results suggest that even in a nonurban location without widespread community transmission, patients may be delaying or avoiding care for severe illnesses such as stroke. Clinicians and public health officials should not ignore the potential impact of pandemic-like illnesses even in areas of relatively low disease prevalence.

Mononeuritis multiplex secondary to sarcoidosis.

Peripheral nerve involvement is a rare, yet treatable neurological manifestation of sarcoidosis. Most patients respond well to corticosteroids, but relapses are common and the long-term prognosis remains unpredictable. We present a patient with an asymmetrical neurological presentation of previously undiagnosed sarcoidosis. She presented with paresthesias and predominantly distal extremity weakness. Other possible causes of neuropathy were ruled out and she was found to have an elevated serum ACE level. A nerve/lip biopsy demonstrated non-caseating granulomas consistent with sarcoid. Her clinical outcome was favorable after initiating treatment with high dose oral prednisone.

Stroke rehabilitation.

Despite improvements in prevention and acute management, stroke remains a common condition and a major cause of permanent disability. For patients who have had a stroke, an effective rehabilitation program is critical to maximize functional recovery and quality of life. Rehabilitation can occur in a number of different physical settings and is often coordinated by a comprehensive interdisciplinary team of professionals. Rehabilitation includes retraining to regain loss of function and teaching compensatory strategies when that is not possible. A number of interesting training approaches have been developed in recent years to supplement more traditional rehabilitation programs. A variety of adaptive devices is available to improve mobility and performance of self-cares, and these devices should be prescribed for appropriate patients. Physicians caring for patients during stroke rehabilitation must be aware of potential medical complications, as well as a number of special problems that may complicate recovery, including dysphagia, urinary incontinence, shoulder pain, spasticity, falls, and poststroke depression. Involvement of the patient and caregivers in the rehabilitation process is essential. It is important to train and educate these individuals in the physical aspects of poststroke care, the expectations for recovery, and secondary stroke prevention. Issues related to community reintegration, including driving and vocational aspects, should be addressed in appropriate patients. Stroke rehabilitation is an important part of the "stroke continuum of care," which includes prevention, acute management, rehabilitation, and secondary prevention.

Contralateral cranial polyneuropathy due to perineural invasion by a cutaneous squamous cell carcinoma.

Cutaneous malignancies may spread to underlying nerves, a process known as perineural invasion (PNI). We report a patient who was found to have PNI presenting as a cranial polyneuropathy on the contralateral side of the face many years after the resection of a squamous cell carcinoma. All diagnostic testing was unrevealing until nerve biopsy was performed. This emphasizes the long asymptomatic period between treatment of a cutaneous malignancy and detection of PNI, and the development of PNI at a site distant from the original malignancy. Biopsy of a clinically involved nerve may permit diagnosis of PNI when other studies are normal.

Neurological recovery after decompressive craniectomy for massive ischemic stroke.

INTRODUCTION: Decompressive craniectomy has demonstrated efficacy in reducing morbidity and mortality in critically ill patients with massive hemispheric cerebral infarction. However, little is known about the patterns of functional recovery that exist in patients after decompressive craniectomy, and controversy still exists as to whether craniotomy and infarct resection ("strokectomy") are appropriate alternatives to decompression alone. We therefore used functional magnetic resonance imaging (f-MRI) to assess the extent and location of functional recovery in patients after decompressive craniectomy for massive ischemic stroke. METHODS: f-MRI was obtained in three patients with massive nondominant cerebral infarction who had undergone decompressive craniectomy for severe cerebral edema 13 to 26 months previously. Brain activation was triggered by hand-gripping or foot- movement tasks. Imaging results were combined with periodic clinical follow-up to determine the extent of neurological recovery. RESULTS: Activation of the contralateral hemisphere was seen in the sensorimotor cortex, premotor, and supplementary motor areas. Lesser activation patterns were seen in equivalent regions of the infarcted hemisphere. Peri-infarct activation foci were seen in two of the three patients, but no activation occurred within the area of infarction as defined by the initial stroke seen on diffusion-weighted MRI. All three patients demonstrated some corresponding neurological improvement. CONCLUSION: After massive hemispheric cerebral infarction requiring decompressive craniectomy, patients may experience functional recovery as a result of activation in both the infarcted and contralateral hemispheres. The evidence of functional recovery in peri-infarct regions suggests that decompression alone may be preferable to strokectomy where the risk of damage to adjacent nonischemic brain may be greater.