Neurological Sciences最新文献

Orthostatic intolerance (OI) is a common problem. Reliable markers of OI are missing, as orthostatic blood pressure and heart rate poorly correlate with orthostatic symptoms. The objective of this study was to assess the relationship between orthostatic lightheadedness and cerebral blood flow. In this retrospective study patients with OI were evaluated at the Autonomic Laboratory of the Department of Neurology, Brigham and Women's Faulkner Hospital, Boston. The 10-minute head-up tilt test was performed as a part of autonomic testing. Orthostatic lightheadedness was evaluated at every minute of the head-up tilt. Heart rate, blood pressure, capnography, and cerebral blood flow velocity (CBFv) in the middle cerebral artery using transcranial Doppler were measured. Repeated-measures design with a linear mixed-effects model was used to evaluate the relationship between orthostatic lightheadedness and hemodynamic variables. Correlation analyses were done by calculating Pearson's coefficient. Twenty-two patients with OI were compared to nineteen controls. Orthostatic CBFv and end-tidal CO₂ decreased in OI patients compared to controls (p < 0.001) and predicted orthostatic lightheadedness. Orthostatic heart rate and blood pressure failed to predict orthostatic lightheadedness. The lightheadedness threshold, which marked the onset of lightheadedness, was equal to an average systolic CBFv decrease of 18.92% and end-tidal CO₂ of 12.82%. The intensity of lightheadedness was proportional to the CBFv and end-tidal CO₂ decline. Orthostatic lightheadedness correlated with systolic CBFv (r=-0.6, p < 0.001) and end-tidal CO₂ (r=-0.33, p < 0.001) decline. In conclusion, orthostatic CBFv and end-tidal CO₂ changes predict orthostatic lightheadedness and can be used as objective markers of OI.

Background and aims: Charcot-Marie-Tooth (CMT) is a heterogeneous group of genetic neuropathies and is typically characterized by distal muscle weakness, sensory loss, pes cavus and areflexia. Herein we describe a case of CMT2CC presenting with proximal muscle weakness and equivocal electrophysiological features, that was misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP).

Case report: A 30-year-old woman complained of proximal muscle weakness with difficulty climbing stairs. Neurological examination showed weakness in lower limb (LL) muscles, that was marked proximally and mild distally, and absence of deep tendon reflexes in the ankles. Nerve conduction studies (NCS) showed sensory-motor neuropathy with non-uniform NC velocity and a partial conduction block (CBs) in peroneal nerve and tibial nerves. Thus, a diagnosis of CIDP was entertained and the patient underwent ineffective treatment with intravenous immunoglobulins. At electrophysiological revaluation CB in peroneal nerve was undetectable as also distal CMAP had decreased whereas the CBs persisted in tibial nerves. Hypothesizing a hereditary neuropathy, we examined the proband's son, who presented mild weakness of distal and proximal muscles at lower limbs. Neurophysiological investigation showed findings consistent with an intermediate-axonal electrophysiological pattern. A targeted-NGS including 136 CMT genes showed the heterozygous frameshift mutation (c.3057dupG; p.K1020fs*43) in the NEFH gene, coding for the neurofilament heavy chain and causing CMT2CC.

Interpretation: Diagnosis of a genetic neuropathy may be challenging when clinical features are atypical and/or electrophysiological features are misleading. The most common misdiagnosis is CIDP. Our report suggests that also CMT2CC patients with proximal muscle weakness and equivocal electrophysiological features might be misdiagnosed as CIDP.

Background: Cranial neuropathy is a principal disease manifestation of neurosarcoidosis, but many forms remain poorly described, including trigeminal nerve disease despite its frequency in reported cohorts (5-12%). Herein, we characterize the clinical course of patients with neurosarcoidosis involving the trigeminal nerve.

Methods: A single-center retrospective cohort analysis of patients with biopsy-proven sarcoidosis involving the trigeminal nerve was conducted between 1/1/2000-3/7/2023.

Results: The trigeminal nerve was affected in 14/245 (5.7%) patients, being clinically symptomatic in 5/245 (2.0%) and asymptomatic with radiographic involvement in 9/245 (3.7%). 14/14 (100.0%) patients had systemic sarcoidosis. In the symptomatic group, trigeminal neuropathy was an inaugural feature in 4/5 (80.0%), unilateral in 5/5 (100.0%) with the V1 subdivision most affected (4/5, 80.0%), and associated with neuralgia in 2/5 (40.0%). On MRI, the cisternal nerve roots (9/14, 64.3%), Meckel's cave (7/14, 50.0%), and cavernous sinus (5/14, 35.7%) were most commonly affected, and 14/14 (100.0%) patients had extra-trigeminal neuroinflammation on cranial MRI. CSF was abnormal in at least one dimension in 11/12 (91.7%) tested. All three treated patients with symptomatic trigeminal neuropathy responded to immunomodulatory treatment, and symptomatic treatments for trigeminal neuralgia were helpful in two patients. After a median follow-up period of 63 months, the median modified Rankin scale score was 1 for both subgroups.

Conclusion: Neurosarcoidosis may involve any portion of the trigeminal apparatus, and when affected, it frequently demonstrates a mismatch in radiographic involvement from its clinical manifestations of facial numbness and pain, and typically occurs in association with other clinical or radiographic manifestations of neurosarcoidosis.

Clinical cognitive decline, leading to Alzheimer's Disease Dementia (ADD), has long been interpreted as a disconnection syndrome, hindering the information flow capacity of the brain, hence leading to the well-known symptoms of ADD. The structural and functional brain connectome analyses play a central role in studies of brain from this perspective. However, most current research implicitly assumes that the changes accompanying the progression of cognitive decline are monotonous in time, whether measured across the entire brain or in fixed cortical regions. We investigate the structural and functional connectivity-wise reorganization of the brain without such assumptions across the entire spectrum. We utilize nodal assortativity as a local topological measure of connectivity and follow a data-centric approach to identify and verify relevant local regions, as well as to understand the nature of underlying reorganization. The analysis of our preliminary experimental data points to statistically significant, hyper and hypo-assortativity regions that depend on the disease's stage, and differ for structural and functional connectomes. Our results suggest a new perspective into the dynamic, potentially a mix of degenerative and compensatory, topological alterations that occur in the brain as cognitive decline progresses.

Air embolism is a rare cause of stroke, usually associated with medical procedures, with gastrointestinal endoscopy rarely implicated. Here, we present a case of a patient who experienced cerebral air embolism post-gastroscopy, presenting with aphasia and right hemiparesis due to left M2 occlusion with spontaneous and complete recovery. CT scan revealed a hypodense defect in the left Sylvian fissure, representing a "hypodense dot sign" suggestive of an air embolism. The hypodense MCA sign, previously described in fat embolism cases, could also indicate air embolism, supporting prompt diagnosis and proper intervention.

Introduction: Acute hemorrhagic leukoencephalitis (AHLE), a rare form of acute disseminated encephalomyelitis (ADEM), has a generally poor prognosis. However, significant variation is observed, and even complete recovery has been reported. The recent increase in the frequency of AHLE case reports is possibly contributed by the advent of COVID-19 and may have added to the heterogeneity of cases.

Methods: We report a fatal case of AHLE with a preceding unspecified respiratory infection, then perform a systematic review of AHLE, in an effort to delineate factors that may be associated with an ultimate outcome of severe disability (defined as modified Rankin scale score of 4 or 5) or death.

Results: Descriptions of 31 cases of AHLE were found in 21 identified articles, with our case being the 32nd case. The most common antecedent event was an infection (20 patients, 62.5%), with nearly half of these being COVID-19 (9 patients). The majority of patients had a subacute progression (1 to 10 days) from onset to clinical nadir. We found that an altered mental status (AMS) and a Glasgow Coma Scale (GCS) score of less than 12 were associated with a final outcome of severe disability or death. An abnormal upgoing plantar response was associated with a final outcome of death. COVID-19 and its vaccines were not associated with either outcome.

Conclusion: AMS, depressed GCS, and an upgoing plantar response at presentation may be associated with a poor outcome in AHLE. Our findings may serve as a springboard to much-needed research into the stratification of AHLE.