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Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. Among the 79 causative genes involved in HSPs, variants in SPAST on chromosome 2p22, which encodes the microtubule-severing protein spastin, are responsible for spastic paraplegia type 4 (SPG4), the most common form of HSPs. SPG4 is characterized by a clinically pure phenotype that is associated with restricted involvement of the corticospinal tract; however, it is often accompanied by additional neurological symptoms such as epilepsy and cognitive impairment. There are few reports regarding the clinical course and treatment of epilepsy associated with SPG4. We describe a 21-year-old male patient with progressive weakness and spasticity of the lower limbs since infancy, which was complicated by epilepsy and cognitive impairment. Magnetic resonance imaging of the brain showed right hippocampal atrophy before the onset of epilepsy. Genetic analysis revealed a novel missense variant (NM_014946.4:c.1330G>C, p.Asp444His) in the SPAST gene. At the age of 13, the patient developed focal epilepsy, characterized by focal onset seizures that were preceded by a sensation of chest tightness. Carbamazepine, levetiracetam, and zonisamide were ineffective in controlling the seizures; however, the use of lacosamide in combination with lamotrigine and valproate was highly effective in improving the seizure symptoms and led to the patient being seizure free for at least 2 years. In conclusion, the missense variant in SPAST may cause a complex SPG4 phenotype accompanied by epilepsy and cognitive impairment, suggesting that the clinical manifestations of this condition do not confine to the motor system.

Although belching is mostly associated with gastrointestinal disorders, it occasionally accompanies movement disorders such as Parkinsonism or dystonia. A woman in her 80s presented distressing belching and chorea of the right arm and leg from 3 years earlier. A brain MRI showed a left caudate infarction and atrophic change. Haloperidol significantly improved belching and chorea. Caudate infarction can cause distressing belching with chorea. It might be important to select the appropriate drug by referring to the accompanying involuntary movement to treat belching with movement disorders.

Primary Epstein-Barr virus (EBV) infection is the main cause of infectious mononucleosis (IM), which typically presents with a triad of fever, lymphadenopathy, and tonsillar pharyngitis in young adults. In contrast, neurological manifestations of IM are rare. We report on a 23-year-old man with subacute oculomotor nerve palsy followed by symptoms of IM 6 days later. Primary EBV infection was confirmed by PCR detection of EBV DNA in blood as well as by subsequent serology. High-resolution magnetic resonance imaging revealed an edematous change at the root exit zone and gadolinium enhancement of the right oculomotor nerve as well as pial enhancement adjacent to the right ventral mesencephalon. A review of the literature identified 5 further patients with isolated oculomotor nerve palsy as the presenting symptom of unfolding primary EBV infection. MRIs performed in 3 of those 5 patients revealed a pattern of contrast enhancement similar to that of the present case. This case report and literature review highlight that, although rare, IM should be considered in the differential diagnosis of oculomotor nerve palsy in young adults.

Neurological adverse events of immune checkpoint inhibitor (ICI) therapy mostly develop within 3 months after initiation of ICI treatment. An 82-year-old male with malignant pleural mesothelioma developed anti-Ma2-associated limbic encephalitis at a delay of 18 months after the start of nivolumab therapy (3 months after termination of a 15-month course of ICI treatment). Immunotherapy with steroids and immunoglobulins resulted in moderate neurological improvement. Over the next year, malignant pleural mesothelioma gradually worsened, while the anti-Ma2 antibody test remained positive. Anti-Ma2 paraneoplastic encephalitis may occur after a delay following the discontinuation of ICI therapy.

This case represents a unique example of stroke in a young patient involving major venous sinuses as well as major artery in a span of 6 months. After evaluation, he was found to have an abnormal thrombophilia profile. In young patients with recurrent stroke, investigating for an abnormal thrombophilia profile is crucial.

Autoimmune encephalitis (AE) is a group of inflammatory brain diseases that are characterized by prominent neuropsychiatric symptoms. Early therapeutic intervention is important for AE. Therefore, without waiting for autoantibody test results, clinicians must consider the possibility of AE based solely on clinical symptoms and conventional test results. The case described herein is of antibody-negative encephalitis with abnormalities shown only by EEG, which contributed to the diagnosis and treatment. The patient, a 20-year-old woman, showed autonomic seizures in addition to movement disorders, psychiatric symptoms, and cognitive dysfunction, which worsened subacutely. Her seizures and movement disorders were not responsive to antiepileptic medications. Results obtained from MRI and cerebrospinal fluid (CSF) were normal; EEG findings showed repeated spikes in the right temporal area, with changes over time. Based on the clinical course and EEG, along with administered immunotherapy, which resolved seizures, movement disorders, and psychiatric symptoms, we suspected AE. For diagnosis of AE and for evaluating treatment responsiveness, EEG was useful. Results indicate that EEG can assist clinicians even with AE cases for which MRI and CSF findings are normal. (C) 2021 The Author(s). Published by S. Karger AG, Basel.

Repetitive transcranial magnetic stimulation (rTMS) is a noninvasive brain stimulation therapy that has become a method of choice for the treatment of several neuropsychiatric disorders such as depression and OCD. It is considered to be a safe and well-tolerated treatment, with only few side effects. The most serious adverse event during any rTMS treatment is the potential induction of a seizure. rTMS has shown very encouraging results for treatment-resistant OCD, although the optimal target area and the stimulation frequency are still matters of controversy. Here, we present a 19-year-old female patient with OCD who experienced seizure during the 7th session of her rTMS treatment using the FDA-approved 20-Hz protocol for OCD applied bilaterally over the left and right DMPFC using a double-cone coil. Nonetheless, it still unknown whether the seizure occurred as a consequence of rTMS, as the patient was also in a specific seizure risk group. Future reviews are needed to further clarify the mechanisms that may trigger seizures during rTMS treatments in order to reduce the likelihood of rTMS-induced seizures.

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, typically caused by survival motor neuron 1 (SMN1) gene deletion in chromosome 5q resulting in loss of SMN protein. SMA type 1 progresses rapidly leading to increased mortality usually before the age of 2 years. Nusinersen, the first approved disease-modifying treatment for all 5q-SMA types and ages, is an antisense oligonucleotide administered intrathecally via repeated lumbar punctures. However, adult SMA patients typically present with severe scoliosis and spinal deformity. We present a 28-year-old patient with SMA type 1 and severe spinal deformity, who received nusinersen via a subcutaneously implanted Ommaya reservoir connected with an intrathecal catheter at the thoracic level. The repetitive administrations were completed uneventfully, obviating the need for repeated laborious lumbar punctures and eliminating radiation exposure. In adult SMA patients, performing recurrent lumbar punctures can be technically challenging raising the need for an alternative route of administration. The use of Ommaya reservoirs is a viable, practical for repeated infusions, and safe option for the intrathecal delivery of nusinersen for select cases such as an adult SMA type 1 survivor with severe spinal deformity.

In the present case report, we investigated the cortical networks of a patient (DDA) affected by right parietal stroke who showed a constructional phenomenon, in which when coping and recalling from memory a complex figure, the model was reproduced rotated of 90° along the vertical axis. Previous studies suggested that rotation on copy is associated with visuospatial impairments and abnormalities in parietal cortex, whereas rotation on recall might be related to executive deficits and dysfunction of frontal regions. Here, we computed the DDA’s resting-state functional connectivity (FC) derived from cortical regions of the dorsal attention (DAN) and the frontal portion of the executive-control network (fECN), which are involved in the control of visuospatial attention and multiple executive functions, respectively. We observed that, as compared to a control group of right stroke patients without drawing rotation, DDA exhibited selective increased FC of the DAN and fECN, but not of task-irrelevant language network, within the undamaged hemisphere. These patterns might reflect a pathological communication in such networks leading to impaired attentional and executive operations required to reproduce the model in the correct orientation. Notably, such enhancement of FC was not detected in a patient with a comparable neuropsychological profile as DDA, yet without rotated drawing, suggesting that network-specific modulations in DDA might be ascribed to the constructional phenomenon of rotated drawing.

There is emerging evidence of a broad spectrum of neurological manifestations in COVID-19 patients. We report a case of a patient diagnosed with COVID-19 who presented bilateral lesions of the basal ganglia related to a severe acute respiratory distress syndrome. This observation allows expanding the neurological spectrum of COVID-19 particularly in patients with a more severe clinical course.

Hypomagnesemia is found in 12% of hospitalized patients and up to 60% of intensive care unit patients and is associated with a variety of organ dysfunction. Posterior reversible encephalopathy syndrome is a neurologic hyperperfusion disorder that mostly affects posterior portions of the brain. Various theories were proposed to explain whether hypomagnesemia is etiology or associated with posterior reversible encephalopathy syndrome (PRES). A patient with kidney transplantation suffered from fatigue and reduced urine output due to chronic diarrhea induced by Clostridium difficile. Hypoparathyroidism in addition to persistent hypocalcemia and hypokalemia was observed and suggested magnesium depletion with normal serum levels. Thereafter, the status was complicated with delirium, seizures, and coma. Neurological status rapidly improved after adding intravenous magnesium sulfate to antiepileptic drugs. The second magnetic resonance imaging (MRI) showed vasogenic edema compatible with posterior reversible encephalopathy syndrome. Therefore, magnesium depletion, with normal serum levels, was considered the most implicated etiology of the syndrome in this patient. Also, hypomagnesemia during the acute phase of the syndrome and excluding all other etiology support this theory. Our case highlights hypomagnesemia-induced PRES, despite the normal serum level. Serum magnesium dropped during the acute phase of PRES, and magnesium should be maintained at the high normal limit, regardless of normal serum level. MRI findings might present after few days of symptoms; this might delay appropriate treatment.

Organized chronic subdural hematoma is a neurological condition characterized by organized clot formation inside the hematoma. Unlike nonorganized chronic subdural hematoma with persistent bleeding inside, organized subdural hematoma is often a nonurgent condition that does not require emergency drainage, unless progressive cerebral compression with neurological disturbances is present. However, as the CT values in organized clot formation and active bleeding fall in similar ranges, distinguishing these 2 conditions with different emergency levels based on brain CT alone is sometimes difficult. Here, we describe the case of a 78-year-old man with persistent nocturia who was referred to our hospital. He had a history of head trauma on the left side about 1 year ago, followed by neurosurgery at another hospital. Brain CT revealed a multiseptated subdural space and a mixed-density hematoma without gradation density on the contralateral side of the past head trauma region. Based on the lack of progressive neurological disturbances and the absence of gradation density in CT values inside the hematomas, his condition was judged as nonurgent, and emergency drainage was spared. One year after his first visit to our hospital, the patient experienced a normal life without any neurological disturbances, except for nocturia. The absence of gradation density in CT values along the gravity direction inside the organized hematoma may be a clue to estimate nonurgency without persistent active bleeding inside.

The authors present the case of a young woman on phentermine and herbal supplements who presented as an acute stroke alert with right-sided facial droop and numbness. She was treated acutely with intravenous tissue plasminogen activator (tPA). However, the workup did not reveal any evidence of cerebrovascular disease or cerebral infarct. The authors discuss plausible stroke mimics and the safety of administering tPA to such patients.

An 81-year-old woman presented with a 2-year history of progressive dysarthria and gait disturbance. Subsequently, she developed orthostatic hypotension, obstructive sleep apnea, right-sided resting tremor, and rigidity. Together with characteristic findings of imaging studies, she was diagnosed with multiple system atrophy (MSA). Despite progressive dysphagia and repeated choking episodes, the patient elected not to use artificial feeding or tracheostomy. She died suddenly at age 91 after 12 years of illness. The autopsy revealed neuropathological features of both MSA and of Parkinson’s disease. The peripheral autonomic ganglia revealed both pre- and postganglionic involvement by synucleinopathy, which may have underscored the sudden death of the patient. The patient survived 10 years after onset, despite the presence of multiple poor prognostic factors in MSA including the onset of old age and early appearance of orthostatic hypotension and falls, in addition to the complication of PD pathology found by autopsy. Multidisciplinary team approach and her preserved cognitive function may have been contributory to the long-term survival.

This is a case of a 32-year-old primigravid who developed sudden severe headache on the 7th day postpartum associated with focal neurologic deficits and altered sensorium. She had a GCS score of 6, anisocoric pupils and an NIHSS score of 31. Cranial MRI with MRA showed multifocal hyperacute to acute infarcts on the left occipital lobe, left thalamus, and midbrain which was more prominent on the right. Due to clinical deterioration, a repeat Cranial MRI with MRA was done and showed progression of infarcts involving both thalami and right pons with interval appearance of contour irregularities in the proximal anterior cerebral, posterior cerebral, basilar and internal carotid arteries. Serial transcranial Doppler showed significant distal right middle cerebral artery vasospasm. She was managed as a case of reversible cerebral vasoconstriction syndrome, associated with postpartum cerebral angiopathy. Intravenous pulse methylprednisolone was started subsequently IVIG was initiated. Intravenous immunoglobulin was given for 5 days. The patient gradually improved, underwent rehabilitation therapy, and was discharged stable after 6 weeks.

A 67-year-old woman with a recurrent history of malignant lymphoma (ML) presented with muscle weakness and paresthesia of the fingertips and feet. Due to the elevated level of serum soluble interleukin-2 receptor and increased 18F-fluorodeoxyglucose uptake in a mediastinal lymph node, neurolymphomatosis was initially suspected. Neurological and electrophysiological examinations were consistent with mononeuropathy multiplex. A diagnosis of neurosarcoidosis was made based on the presence of noncaseating epithelioid granulomas in the mediastinal lymph node, along with the presence of the uveitis, cardiac inflammation, and mononeuropathy multiplex. She was treated with glucocorticoids and azathioprine, and her symptoms disappeared. Sarcoidosis following ML is rare, and since biopsy of nervous systems is often improbable, differentiating neurosarcoidosis and neurolymphomatosis can be difficult as their clinical symptoms can be similar. Clinicians should consider systemic pathological investigations based on 18F-fluorodeoxyglucose positron emission tomography examination in addition to comprehensive evaluation to accurately diagnose neurosarcoidosis.

Restless legs syndrome (RLS) is a debilitating neurological disorder for which a range of medical interventions with varied efficacy has been employed. Based on evidence of iron deficiency in the substantia nigra of the midbrain, there are reports of substantial benefits from intravenous iron infusion. This case report demonstrates a strong statistically significant negative correlation between serum ferritin and RLS severity of symptoms in a subject with RLS who received 2 intravenous infusions of ferric carboxymaltose over a period of 464 days. The results provide further evidence to support the treatment strategy.

Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition characterized by abnormal involuntary movements that are precipitated by a sudden movement. PKD is often misdiagnosed with psychogenic movement disorders. Carbamazepine is usually the first choice of medication due to its well-established evidence but could induce Stevens-Johnson syndrome. We report a 21-year-old male patient with PKD referred to our movement disorders clinic after being misdiagnosed with conversion syndrome. PRRT2 gene testing using next-generation sequencing revealed a mutation in c.649dupC p. (Arg217fs). The patient responded well to carbamazepine but had to withdraw the treatment due to carbamazepine-induced Stevens-Johnson syndrome after 3 weeks of medication. Our patient did not respond to trials of levetiracetam and phenytoin but finally responded well to oxcarbazepine. The patient was followed up for 4 years, during which he had no attacks and no side effects. Here, we present a PKD case with carbamazepine-induced Stevens-Johnson syndrome successfully treated with oxcarbazepine despite the risk of cross-reactive skin eruption between these antiepileptics. Careful history taking and examining patient’s attacks are crucial to accurate diagnosis and treatment in PKD patients.

Aortic dissection (AD) is a serious condition that causes transient or permanent neurological problems that include spinal cord ischemia (SCI), which occurs when AD extends into the descending aorta resulting in insufficient perfusion of segmental arteries that supplies the spinal cord. We report a 64-year-old male, presented with severe back pain, asymmetrical paresthesia, and weakness of both limbs, more in the left lower limb with loss of pinprick, temperature, and fine touch sensation on the lower left lower limb below the level of T5 with preserved proprioception and vibration and urine hesitancy. Computed tomography showed AD, Stanford type A, and spinal magnetic resonance imaging (MRI) showed hyperintense owl’s eye sign at T5. The patient was diagnosed as anterior spinal artery syndrome secondary to an AD and referred for aortic surgical repair with good functional outcome. In our review to cases of SCI due to AD, it was more common in males above 55 years, pain only found in 47.8% of patients, with anterior cord syndrome on top of the clinical presentations, and hypertension is the most common risk factor. MRI spine showed thoracic location predominance. Surgical or endovascular repair especially for type A and complicated type B should be considered to avoid complications, and cerebrospinal fluid drainage is a very useful tool in reversing SCI specially if done early with favorable outcome. Only the old age is associated with increased risk of mortality. Early diagnosis and appropriate management are crucial for better outcome.

Epstein-Barr virus (EBV) has been associated with a plethora of neurological manifestations including polyneuropathy and polyradiculopathy. A 27-year-old man with a recent upper respiratory system infection presented with difficulty in walking. His neurological examination revealed reduced muscle strength in both proximal and distal lower limb muscles without sensory and autonomic signs. Needle electromyography showed abnormal spontaneous activity and reduced recruitment of motor units in muscles innervated by multiple lumbo-sacral roots. Cerebrospinal examination showed increased protein levels with normal cell counts. While spinal MRI was normal, whole-body CT and PET examination showed disseminated lymph node enlargement. Anti-EBV viral capsid antigen and anti-nuclear antigen IgG but not IgM was positive, whereas EBV PCR was negative in blood. Analysis of inguinal lymph node biopsy showed reactive lymphoid hyperplasia and EBV DNA. Leucine-rich glioma-inactivated protein 1 (LGI1) antibody was found in serum but not in CSF. All clinical, imaging, and electrophysiological findings improved following steroid and intravenous immunoglobulin treatment. These findings suggested the acute involvement of lumbo-sacral spinal roots and/or motor neurons. Purely motor polyradiculopathy has been reported in both EBV-positive and LGI1 antibody-positive patients, and EBV infection is known to precede different autoimmune manifestations. Whether EBV infection may trigger LGI1 autoimmunity and cause involvement of spinal motor roots and/or motor neurons needs to be further studied.

The clinical presentation of COVID-19 is varied: from asymptomatic to severe neurological syndrome like stroke can happen. Guillain-Barré syndrome (GBS) as a manifestation of COVID-19 is not very common. GBS is an acute immune-mediated polyradiculoneuropathy that usually occurs following previous exposure to infection. Here, we are reporting a case of GBS related to COVID-19 infection. The reported case presented with quadriparesis and was diagnosed with GBS after evaluation. At the same time, his RT-PCR for COVID-19 was also positive. Interestingly, this patient suffered from COVID-19 2 months before this presentation. He was successfully treated with intravenous immunoglobulin. The clinician should be aware of severe neurological complications such as GBS as a potentially life-threatening complication related to COVID-19.

Cerebral venous sinus thrombosis (CVST) is an uncommon stroke that has a varied clinical profile. Quite often, speech language pathologists limit the assessment of these patients to a language assessment alone. Subsequently, it is possible that they may miss out certain relevant information which can aid them in their intervention. The aim of the current study was to highlight the relevance of adopting a test battery approach to assess a patient diagnosed with CVST. Here, we present a test battery approach to assess a 43-year-old patient who reported to us after CVST. The test battery included various formal and informal measures. Apart from the routine measures, an additional test for assessing the cognitive linguistic profile was included in the battery which yielded us significant information regarding the patient. Thus, we concluded that speech language pathologists should follow a test battery approach to get a clear idea about the clinical profile of the patient, to avoid misdiagnosis, and also to provide suitable intervention.

Arachnoiditis is a rare clinical entity that usually presents with severe debilitating radiating pain that can pose a challenge in diagnosis especially in areas without appropriate imaging modalities. We present a 26-year-old male with progressive lower back pain with radiation to the lower extremities, aggravated by movement and touch. We diagnosed idiopathic arachnoiditis based on cerebrospinal fluid analysis and magnetic resonance imaging. He was managed with a 5-day course of methylprednisolone and analgesics with a good outcome. Severe back pain without a specific cause in a young patient should be investigated with proper imaging modalities and lumbar puncture if warranted to evaluate the cause.

We present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily activities and social engagement. After the introduction of off-label treatment with acetazolamide periods without paralysis lengthened, our patient became more independent of the help of her parents and required a wheelchair less frequently, thus improving her social life. Based on our experience, we recommend a trial of acetazolamide in patients with ATS.

The spectrum of autoimmune encephalitis (AE) encompasses several entities characterized by a variable frequency of psychiatric symptoms, cognitive dysfunction, focal deficits, and seizures. Although patients with AE can be categorized in specific syndromes, overlapping manifestations are also common. Furthermore, atypical correlations between clinical phenotypes and autoantibody profiles could occur in rare cases. Here, we report the rare case of a young adult man attending due to new-onset seizures and a history of memory loss, autonomic disturbances, headache, behavioral changes, and visual and olfactory hallucinations. The patient was subjected to a complete diagnostic approach that included a comprehensive laboratory workup, neuropsychological testing, electroencephalogram, cerebrospinal fluid (CSF) analysis, brain MRI, and positron emission tomography/computed tomography scan that revealed a functional and structural compromise of the bilateral medial temporal lobes. Together with the clinical manifestations of the patient, these findings were compatible with the diagnosis of autoimmune limbic encephalitis (ALE). Strikingly, further analysis of the CSF showed autoantibodies against the N-methyl-D-aspartate (NMDA) receptor. We found very few cases of the co-occurrence of anti-NMDA receptor antibodies and nonparaneoplastic ALE in the literature, especially in male patients. Our report exemplifies the complicated differential diagnosis of ALE and adds clinical information of the association with anti-NMDA receptor antibodies.

Early-onset dementia is defined as dementia occurring prior to the age of 65. Given its impact on physical, mental, and socioeconomic well-being, it is crucial to identify modifiable risk factors. Here, we report a 43-year-old man with early-onset dementia associated with elevated lipoprotein (a) and a missense variant in the DNAJC5 gene. He presented to the hospital with memory loss and multiple cerebrovascular infarcts. Eight months prior, an MRI revealed small acute and subacute infarcts involving the left PCA for which he was treated with antiplatelet agents and a statin. Three months later, he was readmitted for progressive memory loss. CT imaging showed evolving and new infarcts compared to prior scans. A cardiac echocardiogram excluded thrombus and PFO, and he was diagnosed with early vascular dementia. He was readmitted again 5 months later with additional evaluation revealing multifocal moderate to severe stenosis and irregularities involving the bilateral ICA and bilateral PCAs. MRI showed more pronounced infarcts compared to a previous MRI as well as new infarcts. CSF studies, VDRL, RF, ANA, ANCA, homocysteine, and MMA levels were normal. Lipoprotein (a) was found to be markedly elevated, and genetic testing revealed a missense variant of the DNAJC5 gene, the mutation of which is associated with ceroid lipofuscinosis. In conclusion, in patients with early-onset dementia and evidence of accelerated atherosclerosis, it is reasonable to measure Lp(a) and consider testing for variants in genes such as DNAJC5 and others, particularly when disease severity appears unexplained by known risk factors or circumstances.

Cerebral ischemia is a known complication of meningitis. Most Escherichia coli meningitis-induced infarcts have been reported in the neonatal and pediatric population. To the best of our knowledge, there have been no previous reports describing bilateral cortical infarcts in an adult secondary to a K1 strain of E. coli meningitis, and herein we report a case in a 25-year-old female. The challenge in treating this patient was determining the duration of systemic antibiotic treatment and whether or not to use steroids. This study demonstrates the necessity of early diagnosis and treatment of E. coli meningitis to prevent neurological complications, including stroke.

Primary progressive apraxia of speech (PPAOS) is a progressive disorder impairing the motor speech act leaving linguistic function unattained. Although apraxia of speech frequently co-occurs with other neurodegenerative conditions, PPAOS defines a clinical syndrome where apraxia of speech is the sole or prominent symptom for much of the disease’s natural history. Mounting evidence is beginning to fully define this disease as the epiphenomenon of 4-repeat (4R) tau pathology although other pathologic signatures have been reported. Indeed, PPAOS patients generally present a parkinsonian syndrome late into their natural history mostly qualifying for either corticobasal syndrome (CBS) or progressive supranuclear palsy (PSP). This is starting to be reflected in diagnostic criteria for PSP, namely, in the PSP speech and language (SL) subcategory; however, this inclusion is not reflected for CBS. Here, we present a single case of a patient with PPAOS and her clinical follow-up lasting 6 years, from the time she sought our attention to her death which occurred 8 years into the disease. PPAOS was the only and prominent symptom for most of the illness with extrapyramidal signs overtly presenting in the last months of its course. Clinical evaluation, imaging, genetic, and cerebrospinal fluid biomarkers all pointed toward an underlying CBD pathology, albeit the eventual anatomopathological confirmation was not performed. Had her clinical course been more suggestive of PSP, she would have qualified for criteria as PSP-SL. Our case therefore suggests the hypothetic need to discuss the broadening of the existing CBS criteria to encompass isolated PPAOS.

Background Cerebral sinus vein thrombosis (CVT) is a rare but serious complication associated with ulcerative colitis (UC), an idiopathic autoimmune inflammatory disease of the gastrointestinal tract. Management approaches for CVT remain unclear but may include anticoagulation and surgical thrombectomy. Herein, we report a case of a 23-year-old male who developed CVT with a history of UC. The patient was presented to Howard University Hospital when he slipped and fell. On arrival at the hospital, he complained of a headache with an aching sensation, associated with light/sound sensitivity. The patient had a history of uncontrolled UC. He had positive bloody diarrhea, lower abdominal pain, but denied any other neurological deficit. Computed tomography of the head showed left frontoparietal lobe hypodensities. Neurological exam was nonfocal. Vital signs were within normal range, but the patient experienced some memory loss and personality changes. Subsequent diagnosis of CVT was made with magnetic resonance angiography and magnetic resonance venography. Immediate treatment with low-molecular-weight intravenous heparin (18 IU/kg) was introduced. His UC was managed with methylprednisolone (60 mg IV daily), proton pump inhibitors, mesalamine, ciprofloxacin, and metronidazole. His condition gradually improved. On discharge, he was prescribed prednisone, azathioprine for his UC, levetiracetam for seizure, and warfarin with an INR goal of 2–3. In conclusion, the sudden onset and/or acute worsening of neurological status such as headache and mental confusion in a patient with UC should alert the treating physician about the possibility of CVT so that timely intervention could be employed to prevent disabling and potentially lethal sequelae of this disease.

Self-stabbing is an uncommon method of suicide and attempt of suicide, mostly chosen by young men and people with a psychiatric history. A curious case of suicide attempt by self-stabbing with a huge pointed knife in a 56-year-old man is presented which resulted in a myocardial injury and was evaluated with a stroke after cardiorrhaphy.

Downbeat nystagmus (DBN) observed in head-hanging positions, may be of central or peripheral origin. Central DBN in head-hanging positions is mostly due to a disorder of the vestibulo-cerebellum, whereas peripheral DBN is usually attributed to canalolithiasis of an anterior semicircular canal. Here, we describe an atypical case of a patient who, after head trauma, experienced severe and stereotypic vertigo attacks after being placed in various head-hanging positions. Vertigo lasted 10–15 s and was always associated with a robust DBN. The provocation of transient vertigo and DBN, which both showed no decrease upon repetition of maneuvers, depended on the yaw orientation relative to the trunk and the angle of backward pitch. On a motorized, multi-axis turntable, we identified the two-dimensional Helmholtz coordinates of head positions at which vertigo and DBN occurred (y-axis: horizontal, space-fixed; z-axis: vertical, and head-fixed; x-axis: torsional, head-fixed, and unchanged). This two-dimensional area of DBN-associated head positions did not change when whole-body rotations took different paths (e.g., by forwarding pitch) or were executed with different velocities. Moreover, the intensity of DBN was also independent of whole-body rotation paths and velocities. So far, therapeutic approaches with repeated liberation maneuvers and cranial vibrations were not successful. We speculate that vertigo and DBN in this patient are due to macular damage, possibly an unstable otolithic membrane that, in specific orientations relative to gravity, slips into a position causing paroxysmal stimulation or inhibition of macular hair cells.

Sellar gangliocytomas (SGs) are rare, well-differentiated, low-grade neoplasias that commonly present along with a pituitary adenoma (PA). We describe a case of a 52-year-old woman with a 2-year history of headache, body weight increase, and recent onset of arterial hypertension and type 2 diabetes mellitus. Work-up tests revealed a normal hypophyseal profile, except for mild ACTH elevation, and a sellar mass on magnetic resonance imaging (MRI). A diagnosis of an enlarging pituitary macroadenoma was established, and to prevent symptom progression, the tumour was resected. Pathology showed 2 cell populations: ganglion and corticotrope cells. Three years after surgery, the patient no longer had a headache but persisted with arterial hypertension and type 2 diabetes mellitus. A literature review produced 207 cases of SGs. They typically present in women at 40 years of age and the most common clinical presentation are symptoms of acromegaly. Of the documented cases, 74 and 93% were treated with surgery alone or combined treatments (radiotherapy, radiosurgery, or pharmacotherapy), respectively. The majority of deaths associated with a SG came from the first half of the 20th century. In conclusion, this patient presented with a silent SG with likely pituitary hyperplasia. SGs are a challenging diagnosis, have a benign course, and may provide insights into PA tumourigenesis.

Generalized weakness in the pediatric and adolescent population is caused by many disorders that affect the neuromuscular axis. As next-generation sequencing (NGS) is becoming of high yield in replacing more invasive procedures, that is, muscle and nerve biopsy, more previously undiagnosed diseases of the muscles are now labeled with specific pathogenicity. A 16-year-old-girl diagnosed with nemaline myopathy but previously was misdiagnosed with congenital myasthenia and put-on unnecessary medications. Clinicians should be aware of congenital diseases that affect the muscles and know the importance of the NGS in reaching the correct diagnosis more so when there is a history of consanguinity.

Neuroacanthocytosis (NA) is a diverse group of disorders in which nervous system abnormalities co-occur with irregularly shaped red blood cells called acanthocytes. Chorea-acanthocytosis is the most common of these syndromes and is an autosomal recessive disease caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene. We report a case of early onset parkinsonism and seizures in a 43-year-old male with a family history of NA. Neurologic examinations showed cognitive impairment and marked parkinsonian signs. MRI showed bilateral basal ganglia gliosis. He was found to have a novel heterozygous mutation in the VPS13A gene, in addition a heterozygous mutation in the PARK2 gene. His clinical picture was atypical for typical chorea-acanthocytosis (ChAc). The compound heterozygous mutations of VPS13A and PARK2 provide the most plausible explanation for this patient’s clinical symptoms. This case adds to the phenotypic diversity of ChAc. More research is needed to fully understand the roles of epistatic interactions on phenotypic expression of neurodegenerative diseases.

The anterior choroidal artery (AChA) is a small artery commonly arising from the supraclinoid segment of the internal carotid artery (ICA). The significance of the AChA is related to its strategic supply to various important structures of the brain, such as the optic tract, the posterior limb of the internal capsule, the cerebral peduncle, the lateral geniculate body, medial temporal lobe, medial area of pallidum, and the choroid plexus [J Neurol. 1988;235:387–91]. The AChA syndrome in its complete form consists of the triad of hemiplegia, hemisensory loss, and hemianopia. However, incomplete forms are more frequent in clinical practice [Stroke. 1994;25:837–42]. Isolated infarction in the AChA territory is relatively rare. The presumed pathogenic mechanisms of AChA infarction are cardiac emboli, large-vessel atherosclerosis, dissection of the ICA, small-vessel occlusion, or other determined or undetermined causes [Stroke. 1994;25:837–42 and J Neurol Sci. 2009;281:80–4].

International audience; Lenin's stroke remains a matter of debate. Here, we propose to assess the potential mechanisms. Lenin died on January 21, 1924 at the age of 53 years. Although some doctors suggested that the origin of his health problems was neurosyphilis, the autopsy findings were consistent with a severe atherosclerosis. This process might account for his recurrent ischemic strokes. In view of the family vascular history, an early hereditary atherosclerosis may be proposed.

In December 2019, a novel coronavirus outbreak with multiple system involvement started initially in Wuhan City, Hubei Province of China. Coronavirus disease 2019 (COVID-19) infection is a systemic disorder typically presenting with fever, fatigue, and upper and lower respiratory symptoms, although neurological manifestations are increasingly reported, but pathological mechanisms have yet to be established. The symptoms of infection with COVID-19 are dependent on the patient's age and underlying medical illness, and on the condition of the immune system. Neurotropic and neuroinvasive capabilities of coronaviruses have been described in humans. We herein report a patient infected with COVID-19 who developed pneumonia associated with acute progressive myelopathy. Neurological examination revealed progressive flaccid areflexic paralysis of lower limbs over 3 days with retention of urine and sensory level at 10th spinal thoracic segment (T10). The patient had a positive nasopharyngeal swab for COVID-19 at the onset of the neurological symptoms. This case of acute progressive myelopathy adds further evidence of the complications of severe COVID-19 infection, and we are dealing with a virus of unpredictable behavior. Since this virus neurotropism is not clear yet, further investigations should be conducted on the mechanism of possible neurological infection in patients with COVID-19. © 2021 The Author(s). Published by S. Karger AG, Basel.

We report a case of reversible symptomatic rhabdomyolysis associated with thyrotoxic hypokalemic periodic paralysis. The patient had neither past medical nor family history of either disorder. The presenting neurological symptoms and signs, serum potassium, and creatine kinase levels returned to normal without specific treatment. Based on previous case reports, we attributed the combination of the disorders to a mutation of the calcium-gated channel (CACN) gene and its related encoded proteins.

A complication of ventriculoperitoneal (VP) shunting is overdrainage or overshunting of cerebrospinal fluid, which can cause formation of hygroma but in rare cases also cervical myelopathy at a later stage. In this article, we describe a very late complication of VP shunting. We present a 75-year-old man, previously given a VP shunt at the age of 46, who developed a progressive gait disturbance and ataxia of the limbs after 27 years. MRI showed a cervical stenosis and myelopathy as a result of venous engorgement due to chronic overshunting of the VP shunt. Revision of the VP shunt resulted in complete resolution of his neurological symptoms and the cervical myelopathy. Cervical myelopathy due to chronic overshunting is a rare and potentially very late complication of a VP shunt. Our case underlines the importance of awareness of this complication while proper treatment can reverse the associated symptoms fully.

We report a 72-year-old woman with Miller-Fisher syndrome (MFS) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH). She developed diplopia and unsteady gait a week after an upper respiratory infection. Neurologic examination revealed ophthalmoplegia, ataxia, symmetrical weakness, numbness, and areflexia. She underwent intravenous immunoglobulin therapy. Her serum sodium concentration decreased to 119 mEq/L on day 12. She had low plasma osmolarity (254 mosm/kg), high urine osmolarity (457 mosm/kg), and high urine sodium level (73 mEq/L), while the blood level of antidiuretic hormone was normal. Anti-GD1b immunoglobulin G (IgG), -GQ1b IgG, -GT1a IgG, and -Gal-C IgM antibodies were positive. We diagnosed her with MFS overlapping with SIADH. Four weeks after onset, her symptoms recovered. The elevation of anti-GD1b, -GQ1b, and -GT1a antibodies that recognize disialosyl residue may be pathologically related to SIADH.

Increasing evidence reports a greater incidence of stroke among patients with Coronavirus disease 2019 (COVID-19) than the non-COVID-19 population and suggests that SARS-CoV-2 infection represents a risk factor for thromboembolic and acute ischemic stroke. Elderly people have higher risk factors associated with acute ischemic stroke or embolization vascular events, and advanced age is strongly associated with severe COVID-19 and death. We reported, instead, a case of an ischemic stroke in a young woman during her hospitalization for COVID-19-related pneumonia. A 29-year-old woman presented to the emergency department of our institution with progressive respiratory distress associated with a 2-day history of fever, nausea, and vomiting. The patient was transferred to the intensive care unit (ICU) where she underwent a tracheostomy for mechanical ventilation due to her severe clinical condition and her very low arterial partial pressure of oxygen. The nasopharyngeal swab test confirmed SARS-CoV-2 infection. Laboratory tests showed neutrophilic leucocytosis, a prolonged prothrombin time, and elevated D-dimer and fibrinogen levels. After 18 days, during her stay in the ICU after suspension of the medications used for sedation, left hemiplegia was reported. Central facial palsy on the left side, dysarthria, and facial drop were present, with complete paralysis of the ipsilateral upper and lower limbs. Computed tomography (CT) of the head and magnetic resonance imaging of the brain confirmed the presence of lesions in the right hemisphere affecting the territories of the anterior and middle cerebral arteries, consistent with ischemic stroke. Pulmonary and splenic infarcts were also found after CT of the chest. The age of the patient and the absence of serious concomitant cardiovascular diseases place the emphasis on the capacity of SARS-CoV-2 infection to be an independent cerebrovascular risk factor. Increased levels of D-dimer and positivity to β2-glycoprotein antibodies could confirm the theory of endothelial activation and hypercoagulability, but other mechanisms – still under discussion – should not be excluded.

Stroke is a common cause of mortality and serious long-term disability worldwide. In the acute setting, current American Heart Association/American Stroke Association guidelines do not recommend routine anticoagulation for the management of acute ischemic strokes. However, short-term use of unfractionated heparin (UFH) in select subpopulations has demonstrated improved outcomes. While tools such as CHADSVASC and HASBLED scores are useful in stratifying risk of long-term anticoagulation in patients with nonvalvular atrial fibrillation and additional risk factors, the carefully selected patient populations for the design of these studies do not account for risk of hemorrhage from other preexisting conditions. Here, we present a patient with a posterior circulation intraluminal thrombus treated with UFH, who manifested with a near-fatal intra-abdominal hemorrhage from a previously undetected renal angiomyolipoma (AML).

Iatrogenic peripheral nerve injuries may result from transection, stretch, compression, injections, ligature, heat, anticoagulant use, and radiation. Iatrogenic median nerve palsy has been reported rarely. We report a case of a woman who underwent craniectomy for treatment of trigeminal neuralgia. Intraoperatively, a transient decline in the amplitude of the left upper extremity somatosensory evoked potentials (SSEPs) was noted. This finding was presumed to be due to the traction on the brachial plexus as it improved with repositioning. Immediately upon waking from anesthesia, the patient experienced sensorimotor deficits in the left median nerve distribution. Ecchymoses from venipuncture were observed in this area. Electrodiagnostic studies confirmed a left median nerve neuropathy localized in the antebrachial area. Neurosurgeons and neurologists should be alert to potential iatrogenic median nerve palsy following vascular access at the antebrachial region. Vascular access could be performed under the ultrasound guidance when a patient is under anesthesia or unable to give sensory feedback. Furthermore, placing an additional recording electrode over the proximal upper arm during intraoperative SSEP monitoring aids in distinguishing between brachial plexus and peripheral nerve injuries.

Adult-onset Alexander disease (AOAD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP). Individuals with this disorder often present with a typical neuroradiologic pattern, including frontal white matter abnormality with contrast enhancement, atrophy and signal intensity changes of the medulla oblongata and upper cervical cord on MRI. Focal lesions are rarely seen in AOAD, which causes concern for primary malignancies. This study aimed to present the case of a 37-year-old male patient initially diagnosed with an astrocytoma in the lateral ventricle that was later identified as GFAP mutation-confirmed AOAD. GFAP sequencing revealed a heterogeneous missense mutation point c.236G>A. Hence, AOAD should be considered in patients with tumor-like lesion brain lesion in association with atrophy of medulla oblongata and upper cervical spinal cord, and frontal white matter abnormality with contrast enhancement.

A 66-year-old woman with a history of bronchial asthma had shortness of breath and fatigue upon mild exercise. She was diagnosed as congestive heart failure. A blood test showed eosinophilia without the presence of anti-neutrophil cytoplasmic antibody (ANCA), and a myocardial biopsy specimen revealed eosinophilic infiltration in the myocardium. Eosinophilia was improved when she was administered short-term methylprednisolone. After that, she had numbness and pain in her lower limbs with re-elevation of eosinophils. She had dysesthesia and hypalgesia in the distal part of the limbs. Sural nerve biopsy revealed axonal degeneration and thickness of the arterial wall, indicating a diagnosis of eosinophilic granulomatosis with polyangiitis (EGPA). Two courses of steroid pulse therapy were performed, resulting in marked improvement of her sensory symptoms. ANCA-negative EGPA might be associated with myocarditis and peripheral neuropathy. A sufficient immunotherapy should have been considered to prevent rapid progression.

Foot drop is defined as an impaired ability or inability of dorsiflexion. Peripheral nervous system injuries are commonly considered as the cause of this condition. The central causes including parasagittal meningioma are also described in the literature but very rarely and commonly not recognized early. In this article, we report 2 patients with isolated unilateral foot drop as the first symptom of a parasagittal meningioma and discuss several reasons for delayed diagnosis. Two patients were treated with decompressive craniotomy. The histopathological findings demonstrated a fibroblastic meningioma and a meningothelial meningioma. During postoperative follow-up, the woman patient showed nearly complete recovery and the second case regained total muscle power over a period of 12 months. The rarity of the disease, the absence of upper motor neuron signs, the occurrence of peripheral pathologies and misinterpretation of F wave on nerve conduction study, and motor unit recruitment on electromyography lead to delay in diagnosis and treatment of the central foot drop due to parasagittal meningioma.

Amyloidosis is a disorder caused by extracellular tissue deposition of insoluble fibrils. Amyloidosis can be divided into systemic or localized disease. Primary systemic amyloidosis is a multisystem disease caused by the deposition of amyloid in various tissues. Localized amyloidosis has different characteristics than those of systemic amyloidosis. In this paper, we present the case of a middle-aged woman who presented with worsening ulnar nerve palsy. Electrophysiological examination and MRI indicated a tumor surrounding the ulnar nerve in the forearm. However, the operative findings revealed that ulnar nerve fascicles were replaced with a yellow tissue, which was diagnosed as amyloid light-chain λ amyloidosis, based on histopathological examination. Systemic amyloidosis was ruled out after the screening examinations. This paper is the first report of the ulnar nerve as the sole site of localized immunoglobulin light-chain amyloidosis manifestation.

Stereotactic radiosurgery (SRS) is a proven treatment modality for inoperable arteriovenous malformations (AVMs). However, the rate of radiation-induced necrosis (RIN) is as high as 10%. A 6-year-old female patient presented with severe headache, emesis, and syncope, and workup revealed a Spetzler-Martin grade 4 AVM with intraventricular hemorrhage and hydrocephalus. The patient underwent a right frontal ventriculostomy followed by a linear accelerator-based SRS of 16.9 Gy. At 19 years, she developed progressive neurological symptoms. Diagnostic magnetic resonance imaging (MRI) revealed a recurrent parietal AVM nidus. We delivered the linear accelerator-based SRS of 18.5 Gy to the AVM nidus. Within 9 months, she experienced episodic headaches and left-sided weakness and spasticity; symptoms were initially managed with dexamethasone. Follow-up MRI was notable for edema and nondetectable blood flow, consistent with RIN and AVM obliteration. The second course of steroids did not provide the symptom control. Persistent RIN was noted on MRI, and she had stigmata of steroid toxicity (centripetal obesity, depression, and sleep disorder). Two infusions of bevacizumab (5 mg/kg) were administered concurrently with a tapering dose of dexamethasone. The patient noted a near immediate improvement in her headaches, and 2 months following the second bevacizumab infusion, she reported a near-complete resolution of her symptoms and displayed improved ambulation. The development of RIN remains a noteworthy concern post-SRS of AVMs. While steroids aid with initial management of RIN, for persistent and recurrent symptoms, bevacizumab infusions serve as a viable treatment course, with the added benefit of reducing the likelihood of adverse effects resulting from prolonged steroid therapy.

Pseudotumoral forms of demyelination are related to central nervous system demyelinating disorders, usually considered to be an atypical presentation of multiple sclerosis including its different varieties such as Balo’s, Schilder’s, and Marburg diseases. These lesions could also be seen in myelin oligodendrocyte glycoprotein antibody-associated demyelination, acute disseminated encephalomyelitis (ADEM), and neuromyelitis optica spectrum disorder. The pseudotumoral aspect may be mistakenly considered as an abscess or a cancerous tumor, in which case, patients could endure unnecessary possibly harmful brain biopsy and have a delay in their disease diagnostics and management. Once latter differential diagnosis is discarded, pseudotumoral demyelination prompts uncertainties concerning the nature of the underlying demyelinating condition as prognosis and management differ from multiple sclerosis to other syndromes, especially whether a chronic treatment is needed or not. In this case report, we present a 35-year-old male patient hospitalized in the department of neurology for a rapidly progressive onset of encephalopathy and polyfocal neurological deficits, with pseudotumoral lesions shown on brain MRI. On further investigations, ADEM was the more likely diagnosis that could fit the patient’s clinical and radiological presentation. Thence, he was put on high dose of intravenous corticosteroids, with a followed good recovery within the first week of the treatment.

Solitary fibrous tumor is a very rare mesenchymal tumor that occurs mostly in the pleura, and there are few reported cases of a presence in the central nervous system, particularly in the cerebellum. In 2016, the WHO classified solitary fibrous tumors into grade I. In this article, we present a case of malignant solitary fibrous tumor recurring 8 years after surgery in a 63-year-old male. Magnetic resonance imaging showed low to intermediate mixed signal intensity on T1W1. Immunohistochemical staining positivity for Vimentin, CD99, CD34 and Bcl-2, it is consistent with the immunohistochemical characteristics of solitary fibrous tumor. We resected the patient's tumor, and the patient was followed up for 3 months with no signs of recurrence. Solitary fibrous tumors are very rare in the central nervous system. Immunohistochemical staining positivity for CD34 and Bcl-2 is strongly expressed in most solitary fibrous tumor. Surgical resection is the preferred treatment. Due to the small number of cases, the biological behavior and prognosis of this tumor need to be further explored.