United States

Background: Amyotrophic lateral sclerosis is a chronic neurodegeneration of the upper and lower motor neurons, and it is either spinal-onset or bulbar-onset. Here we present a case of bulbar-onset ALS with its many typical features.

Case Presentation: Patient is a 47-year-old female with a past medical history of diabetes mellitus, anxiety, depression, and GERD came to the ED complaining of increasing weakness in extremities, worsening unsteady gait, blurry vision, and right side of tongue heaviness. She denied headache, nausea, vomiting or diplopia. Physical exam was unremarkable on admission. MRI revealed pituitary adenoma. The patient was discharged to follow up with her ophthalmologist and endocrinologist. Patient came back to the ED three years later, complaining worsening depression symptoms and gait unsteadiness where she couldn’t walk unassisted. She also complained of progressive trouble breathing and speaking. Patient’s son reported that the patient had increasing mood liability for the past four months, with anger outburst and uncontrollable laughing and crying. She also couldn’t perform her ADLs. The brain MRI redemonstrated stable pituitary mass compressing optic chiasm. Physical exam was remarkable for dysarthria, spasticity was noted on bilateral lower extremities, first dorsal interosseous atrophy, positive left Hoffman’s reflex, and positive bilateral pectoralis reflex. Paraneoplastic panel was ordered, which came back negative two weeks later. Nuedexta was prescribed for her pseudobulbar affect (PBA) syndrome, and baclofen was prescribed for spasticity. Furthermore, the patient was diagnosed with bulbar-onset ALS, as EMG/NCS showed evidence of neuropathy. Patient was provided an order of power chair and non-invasive ventilator, and scheduled for a regular EMG/NCS monitoring lower motor neuron function.

Discussion: This case highlighted the typical progression of bulbar-onset ALS, consisting of dysarthria and emotional liability and it’s mostly common in women. Because of the patient’s history of depression, her PBA may be mistaken as related to her mood disorder. Her incidental finding of pituitary adenoma may have confounded the symptoms of blurry vision and muscle weakness. It also highlighted the challenge of ALS diagnosis as many other neurological conditions can mimic ALS, and the importance of physical exam findings which can lead to early suspicion of ALS.

2022 AMA Research Challenge

A Case of Bulbar-onset Amyotrophic Lateral Sclerosis (ALS)

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Charles Lopresto, DO

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poster

Background: Postinfectious autoimmune encephalitis has been established as a disease mechanism after herpes simplex virus encephalitis (HSVE) and is generally associated with the presence of N-methyl-D-aspartate receptor (NMDAR) antibodies but is not necessarily limited to these.1,2,3 Presentation neuropsychiatric symptoms that develop 3-6 weeks following the initial infection and should prompt the search for underlying autoantibodies, though they are not always present. While symptom improvement has been seen and documented with corticosteroid, plasma separation, immunoglobulin, and rituximab treatment, there are no set guidelines on the length of treatment needed for symptom resolution and relapse prevention.1,2,3,4 


Results: This is a 71-year-old woman who presented with altered mental status and seizure-like activity in the setting of fever. MRI brain showed FLAIR changes in bilateral medial frontal and L temporal/insula region. CSF analysis revealed WBC 58 and HSV1 PCR positive - consistent with HSV-1 encephalitis. Her Mayo autoimmune encephalitis panel was negative. She completed a 21-day course of acyclovir and after a 2-month long hospitalization she was eventually able to return home with only mild cognitive deficits. However, a month post discharge, she started having seizure-like activity with agitation and behavioral disturbances found to be profoundly bradycardic requiring urgent pacemaker placement. Extensive workup including LP and continuous EEG were negative for ongoing seizure activity or recurrence of HSV encephalitis. She was treated with a 5-day course of IV methylprednisolone followed by 2g/kg IVIG without significant improvement in her altered mental status. Mayo autoimmune encephalitis panel was again negative. Family declined further immunosuppressive treatment and 3 weeks post admission decided to pursue hospice. About 6 weeks post discharge to hospice, she had significant recovery in mentation and decline in episodes of agitation. She only received phenobarbital for seizure management during her hospice stay. She is currently one year post discharge from hospice without any new symptoms and is not on any long-term immunosuppressive agents. Repeat MRI is stable. 

Discussion: No specific standard guidelines currently exist for the management of postinfectious autoimmune encephalitis. Many patients are treated with various immunosuppressive agents for a varying time frame depending on clinical course and physician preference. Current practices for long-term treatment of autoimmune encephalitis as found by one study show that 38% of physicians used an oral prednisone taper while 46% used rituximab.5 However, as seen in this case presentation, the patient achieved remission without a long-term treatment, which warrants a further dive into understanding the efficacy of long-term treatment options and practices. 

Conclusions: Relapse of autoimmune encephalitis has been seen with and without long-term treatment, which warrants a further dive into understanding the efficacy and duration of long-term treatment options. 


A Case of Postinfectious Autoimmune Encephalitis Recovery Without Long-term Management

Abstract Title: Anomalous Origin of the Occipital Artery: A Case Report and Literature Review

Background: Many common arterial anatomic variations deserve special attention as they can induce inadvertent brain or cranial nerve injury during interventions. The occipital artery is one of the arteries of interest located in the posterior neck due to its involvement in several vascular lesions and interventions.

Case Presentation: A 40-year-old male underwent an ischemic stroke workup following an ischemic stroke in the right thalamus. An atypical occipital artery origin that arises from the internal carotid artery (ICA) was demonstrated on cerebral digital subtraction angiography (DSA). The right anterior-oblique and lateral projections showed the abnormal origin of the right occipital artery that originated from the anteromedial aspect of the ipsilateral ICA. 

Discussion: Occipital artery anomaly may lead to misdiagnosis of the stenotic segment during radiological evaluation. However, there is no evidence that the aberrant origins of the branches of ICA are involved in atherosclerotic disease. If atherosclerotic plaques or stenosis occur at the proximal part of the internal carotid, it will likely involve the anomalous branches too. Consideration of abnormal origin of OA from ICA is also significant if there’s a collateral flow with an accompanying vertebral artery (VA) stenosis, in the case of endovascular management of patients with carotid artery stenosis. Another noteworthy clinical significance of an anomalous occipital artery is the necessity of its radiological identification before the precise intra-arterial chemotherapy for the management of the malignancies of head & neck. Thus, interventional radiologists should be aware of the aberrant origins of occipital artery from internal carotid for the purpose of avoiding complications.


Anomalous Origin of the Occipital Artery: A Case Report and Literature Review

Background
Autoimmune encephalitis is a rare form of encephalitis most common among women and children. Clinical presentation can vary, with a constellation of symptoms including deficits in memory, cognition, seizures, abnormal movement, psychosis, and coma. Due to variation in clinical presentation and lack of specificity in imaging and laboratory findings, diagnosis and intervention are often delayed for months to years. This can have long-term ramifications especially in pediatric patients, whose neural pathways are still developing. Diagnosis is difficult with nonspecific clinical presentations and changes in personality which can be falsely attributed to growing up or behavioral issues. 

Case Presentation
Patient is a 7-year-old female with presented with 3-week history of migratory, episodic pain in bilateral lower extremities and spine. She was discharged a week prior following hospitalization for similar symptoms with diagnosis of acute musculoskeletal pain secondary to functional neurological disorder. Cause wasn’t identified after imaging: head CT, spinal x-ray, MRI of head and spine were normal. 

Discussion
Autoimmune encephalitis of unknown etiology is a diagnosis of exclusion. She fits the clinical picture and most laboratory findings; however, etiology couldn’t be identified after extensive investigation. In the literature, an infectious cause is identified in less than half of cases, suggesting post infectious/noninfectious elements to her physiology. Children demonstrate changes in neurocognitive testing making diagnosis difficult. Imaging can aid however none are highly sensitive or specific. EEG findings show diffuse slowing and delta brush pattern. MRI shows FLAIR hyperintensity. If CSF doesn’t show antibodies or pathogens, patients could have antibody-negative autoimmune encephalitis.

Autoimmune Encephalitis of Unknown Etiology

Background
Left-right disorientation is most often associated with Gerstmann’s syndrome, a syndrome caused by damage to the dominant parietal lobe which presents with a tetrad of symptoms including left-right disorientation, acalculia, agraphia, and finger agnosia. This disorder is most often caused by a stroke but is also rarely associated with brain tumors and subdural hematomas. There are currently only 4 cases reported in the literature of seizures presenting with Gerstmann’s symptoms.

Case Presentation
A 60-year-old man presented to our neurology office with frequent episodes of decreased awareness and shock-like sensations in his hands and feet. His evaluation showed no major abnormalities including a normal electroencephalogram and magnetic resonance imaging of the brain. He was started on levetiracetam for presumed complex partial seizures. He experienced no further seizure episodes thereafter. During a follow-up visit, he reported new historical details not previously disclosed: since childhood, he had difficulty differentiating between left and right. These symptoms had caused significant difficulties for him throughout his life, leading to special tutoring in elementary school, and trouble learning to drive. He often had to use external cues such as looking at the watch on his left hand to determine left and right. He reported that after starting levetiracetam he became hyperaware of directionality and even felt that his visual field was labeled with “left” and “right”. His left-right confusion had seemed to completely and permanently abate. 

Discussion
The resolution of this patient’s left-right confusion with levetiracetam was dramatic and unexpected. We question whether his left-right disorientation may have been related to underlying seizure activity in the parietal lobe as has been described rarely in the literature. However, the persistence of his left-right disorientation throughout life, even when not actively seizing, is puzzling and would represent a presentation unique from anything currently in the literature. 


Lifelong Left-Right Disorientation that Resolved with Anti-Epileptic Therapy

Background:
Miller-Fisher Syndrome (MFS), a rare subtype of Guillain-Barre Syndrome (GBS), is an autoimmune disease characterized by inflammatory demyelination. The classic presentation is a triad of ophthalmoplegia, ataxia, and areflexia. Rare cases of MFS have been documented following SARS-CoV-2 infection and some SARS-CoV-2 vaccines.
Case Presentation:
A 64-year-old male received the J&J SARS-CoV-2 vaccine on 04/04/2021. He developed gait ataxia, facial weakness, dysarthria, dysphagia, diplopia, and extremity paresis over the following 2 weeks. On 04/23/21 he was diagnosed with GBS based on clinical presentation and albuminocytologic dissociation appreciated in CSF at an outside hospital. He received a 5-day course of IVIG and was discharged home with minimal improvement. 
The patient was re-evaluated on 06/18/2021. Neurological examination was significant for bilateral facial weakness worse on the left compared to the right, patellar and ankle areflexia, and absent pallesthesia below the knees. Gait was ataxic with positive Romberg. Laboratory results showed elevated titers of IgG GQ1b (15000), supporting the diagnosis of MFS. 6 months later, he returned to work and resumed a fully functional life. His dysarthria was minimal; paresis on the right face resolved and was minimal on the left; diplopia completely disappeared.
Discussion:
MFS is a rare GBS variant that is associated with ophthalmoplegia, ataxia, and areflexia. It has been described as a rare complication of COVID-19 infection and Pfizer and Oxford-AstraZeneca vaccines but has not been previously documented in association with the J&J vaccine.
The documented cases of MFS after SARS-CoV-2 infection and vaccination can be anti-GQ1b negative or positive. The only published MFS case with positive anti-GQ1b has limited presentation without ataxia or neuropathy. We present a unique case of MFS with positive anti-GQ1b antibody, suggesting GQ1b molecular mimicry as the possible immunopathogenic etiology.
Conclusion:
This case offers evidence that physicians should be vigilant for neurological complications after SARS-CoV-2 vaccination. MFS is a rare complication but has a good prognosis with early identification and treatment. There is limited evidence regarding factors influencing MFS development post SARS-CoV-2 vaccination, and we hope this case contributes to a better understanding of it.


Miller-Fisher Syndrome in a 64-year-old male following J&J SARS-CoV-2 vaccine

Background
Neuroblastoma is a pediatric neuroendocrine tumor of the sympathetic nervous system that can present distinctively in terms of location, histopathologic appearance, and biologic characteristics. The clinical presentation is reflective of the location of the primary tumor, tumor metastasis, and presence of neoplastic syndrome. We report a rare case of neuroblastoma in a 3-year-old female with clinical presentation of multiple cranial nerve involvement. 

Case Presentation
A 3-year-old afebrile, lethargic female presented with bilateral eyelid droop, right head tilt, slurred speech, gagging, abnormal walking and no bowel movement. Neurological examination noted bilateral ptosis, dysarthria, left tongue deviation, proximal weakness in upper and lower extremities, areflexia in biceps and patellar tendons, dysmetria, and wide-based gait. 

MRI of the brain showed heterogeneous appearance of the clivus and MRI of the spine showed right adrenal mass and heterogeneous enhancement of multiple vertebrae, suggesting possible metastatic disease. Serum and cerebrospinal studies were unremarkable. Patient was treated with intravenous methylprednisolone and plasmapheresis for suspected paraneoplastic syndrome; however, she continued to clinically progress. Adrenal mass biopsy results and elevated urine VMA and HVA levels were consistent with the diagnosis of neuroblastoma. Nuclear imaging and meta-iodobenzylguanidine scan were negative. Paraneoplastic panels and Lambert Eaton panel were negative for autoantibodies. Total resection of the abdominal mass and right adrenal gland with continued steroid taper, resulted in reported near total symptom resolution. 

Discussion
Our patient presented with antibody negative paraneoplastic polyneuropathy due to neuroblastoma. Cranial nerve involvement in neuroblastoma can result from tumor involvement of the sympathetic chain, paraneoplastic syndromes, or metastasis to the skull. Our patient's initial imaging suggested potential metastatic or inflammatory involvement of the clivus, suspected of causing her cranial nerve symptoms. However, nuclear studies were negative for metastatic disease and patient’s symptoms resolved after resection of the main mass suggesting a paraneoplastic etiology. Although her paraneoplastic panel and Lambert-Eaton panel were negative for common associated antibodies, it is likely an unmeasured autoantibody, cytokine, hormones, or peptide was at play. 

Neuroblastoma should be considered as a differential for a neurological presentation involving multiple cranial nerves in a child. 




Neuroblastoma Presentation with Multiple Cranial Nerve Involvement

Occult vascular structures in gliomas visible on routine MRI are associated with risk of intracranial hemorrhage 
Benson JW, Bonm AN, Ko AL, Graber JJ
University of Washington Medical Center
Seattle, WA
Purpose
This study aimed to assess the clinical significance of types of occult vascular
structures seen within gliomas on routine MRI.
Methods
Three types of vascular structures (angioarchitecture) seen within
gliomas on routine magnetic resonance imaging (MRI) have been described that were not common in brain metastases. These occult vascular structures are classified as intratumoral, peritumoral or periventricular. A retrospective review analyzed 52 consecutive grade II-IV gliomas and 70 additional gliomas from
a retrospective study assessing post radiation changes were assessed. The initial 52
patients were evaluated by two blinded neuroradiologists. The second 70 patients were evaluated by a neurooncologist who is board certified in neuroimaging and a second year medical student after training on the initial dataset in a blinded fashion. Multivariate analysis was performed to develop predictive models of the vascular-related parameters. 
Results
Presence of peritumoral vessels or peritumoral and intratumoral vessels
were significantly associated with intracranial hemorrhage.
Conclusion
Occult microvascular angioarchitectural structures detectable on routine clinical MRI may aid in determining risk of intracranial hemorrhage for patients with gliomas. 

Occult Vascular Structures in Gliomas Visible on Routine MRI are Associated with Risk of Intracranial Hemorrhage

Parkinsonism-hyperpyrexia syndrome is defined as a hypo-dopaminergic state due to sudden withdrawal of dopaminergic therapies in those with Parkinson’s disease. Presentation mimics medical emergencies like neuroleptic malignant syndrome, anticholinergic toxicity, and serotonin syndrome. Differentiating the conditions can be limited by the patient’s cognitive and verbal status. A detailed history is vital to identifying the most likely etiology. Treatment is directed at restoring the patient’s central dopamine levels and minimizing physical and psychiatric distress. In this report, we discuss a case of Parkinson’s hyperpyrexia that highlighted the importance of detailed history investigation, pharmacological reconciliation, and prompt inclusion of subspecialists.
A 79-year-old female with a history of Parkinson’s disease presented to the emergency department after multiple falls, and new onset of decreased articulation, ability to perform activities of daily living (ADL), fixed rigidity of the lower extremities, and an inability to move arms from the flexed position. Physical exam revealed incomprehensible speech without slurring, masked facies, restricted range of motion in the upper extremities, and lower extremities fixed in the flexed position at the hips and knees. Stroke evaluation was limited due to the patient’s condition. CT head demonstrated no acute process, volume loss, and multifocal white matter disease. Through neurology consult and survey of medical records, it was discovered that medications had been changed in the outpatient setting two weeks prior. Specifically, the patient was advised to discontinue Carbidopa-Levodopa (Sinemet) due to patient reporting no significant benefit. Sinimet had been replaced with the dopamine potentiator Amantadine.
In the hospital, Amantadine was discontinued and Sinemet as started at prior dosing of 25/100 mg. Physical and occupational therapy were also consulted. Within 24 hours the patient could dorsiflex her feet and abduct her shoulders up to 30 degrees. By day 3, the patient stood independently, pronate and supinate her forearms, and speak at an audible volume. Over five days, the patient was once again able to demonstrate facial expressions, ambulate, and feed herself independently without aspiration.
This patient encounter emphasized the importance of obtaining a detailed medical history including reconciliation of home medications and recent changes to medication. In this patient, the abrupt withdrawal of a basal dopamine supply precipitated an exaggerated parkinsonism which mirrored other debilitating and life-threatening conditions. Although the patient believed that the benefits of therapy diminished it became clear that maintenance therapy was necessary for the conservation of ADLs. Similarly to stroke patients, early rehabilitative therapy accelerated the patient’s recovery to baseline and beyond. Future providers should consider the pros and cons of medication changes for chronically ill patients, investigate the patient's history in detail, and form a multidisciplinary care team early in the care process.


Parkinsonism-hyperpyrexia Syndrome: a Rare Case

Latent reactivation of varicella zoster virus (VZV) has been increasingly recognized as a cause of ischemic stroke in adults, a poorly documented VZV complication in the United States. VZV vasculitis should be suspected if a patient: is immunocompromised, has a recent history of varicella or zoster infection or reactivation, lacks vascular risk factors, has recurrent strokes despite therapy, or has arterial narrowing inconsistent with atherosclerosis. We present a case where an immunocompetent adult, with no history or risk factors for stroke, was diagnosed with VZV vasculopathy and experienced recurrent ischemic strokes despite antiviral therapy. Further research into causes and management of VZV-related strokes refractory to acyclovir and steroids is needed to improve patient management.

Recurrent ischemic strokes caused by varicella zoster vasculopathy in an immunocompetent patient

Background. Carotid artery dissection is a major cause of stroke in patients younger than 40 years old, accounting for up to 25% of ischemic cerebral events that lead to a long-term disability and a large economic burden. The clinical picture of this condition varies widely, thus, the disease may be easily misdiagnosed. We present a case of spontaneous left carotid artery dissection in a previously healthy 29-year-old female. Our aim is to stress on the presentation and a diagnostic approach of this condition, as prompt diagnosis and, thus, early treatment decrease the rate of a stroke and its consequences in this age population.
Case Presentation. A 29-year-old female presented to our clinic with the presumptive diagnosis of first manifestation of migraine, complaining of moderate unilateral headache, involving the left half of the head and neck, including periorbital region, exacerbated by physical activity. However, the clinical presentation of migraine was atypical, including the absence of aura, persistent character of pain, inadequate response to therapy. A decision to perform carotid artery ultrasound was made, revealing a hypoechoic thrombus, completely occluding the lumen of the left internal carotid artery, arising from posterior aspect of the left common carotid artery bifurcation. On color doppler, blood flow in the internal carotid artery was not visualized. MRA of the brain revealed dissection of the left carotid artery with the false lumen that has been completely clotted. A true lumen, 2 mm in diameter, also contained thrombus. The patient started anticoagulant therapy that lasted for 8 weeks. Our patient had a favorable outcome: symptoms were resolved and the blood flow was restored due to complete recanalization of the thrombus.
Discussion. In young adults, carotid artery dissection may occur spontaneously, thus, may be missed or misdiagnosed as other more common conditions, such as migraine, cluster or tension headache. Carotid artery dissection may cause serious complications (TIA, stroke, or one-sided blindness), so it should be included into the differential diagnosis of headache. Early diagnosis is imperative to initiate appropriate therapy that improves patients’ prognosis. More studies are needed to improve diagnostic approach and outcomes in this group of patients.


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A Case of Bulbar-onset Amyotrophic Lateral Sclerosis (ALS)

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