Lower Extremity Weakness Research Articles

A Rare Case of Hereditary Spastic Paraplegia 46 With Novel Compound Heterozygous GBA2 gene variants (P3-8.013)

<h3>Objective:</h3> To present a case of Hereditary Spastic Paraplegia (HSP) 46 with distinct imaging and clinical findings, with two novel variants in <i>GBA2</i>, previously classified as variants of undetermined significance (VUS). <h3>Background:</h3> HSP is an uncommon cause of lower extremity spasticity and weakness. There have been many genetic etiologies identified with various clinical features. HSP 46 is an autosomal recessive, slowly progressive form of HSP caused by biallelic pathogenic variants in <i>GBA2</i>. <h3>Design/Methods:</h3> NA (Case report) <h3>Results:</h3> A 21-year-old man presented with progressive lower extremity weakness and ambulatory dysfunction. Symptom onset was in second grade, when he was found to have difficulty walking and inversion of the right foot. His ambulatory dysfunction continued to progress. Extensive serologic testing was negative, as was MRI of his spinal cord. Brain MRI demonstrated thinning of the corpus collosum. Examination approximately 12 years after his initial presentation was notable for diffuse hyperreflexia, bilateral lower extremity spasticity, and bilateral Hoffmann and Babinski signs. He had excessive lower extremity circumduction in swing phase, hyperextension at the knees, and internal rotation at the hips; consistent with a scissoring gait. There were no cranial neuropathies, sensory deficits, or cerebellar ataxia. The family history was negative. Genetic testing via whole-exome sequencing demonstrated compound heterozygous <i>GBA2</i> variants, both classified as VUS: c.1820 A&gt;G (p.N607S) and c.472 G&gt;A (p.G158R). <h3>Conclusions:</h3> Considering the distinctive clinical features, MRI finding of dysgenesis of the corpus collosum, and absence of an alternative explanation, we propose that the GBA2 variants found in this patient may be causative. Functional studies and/or messenger ribonucleic acid sequencing may confirm our hypothesis. <b>Disclosure:</b> Dr. Gill has nothing to disclose. Dr. Gill has nothing to disclose. Madeline Williamson has nothing to disclose. Dr. Avila has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alnylam Pharmaceuticals. Dr. Avila has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Alnylam Pharmaceuticals. Dr. Avila has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Akcea Therapeutics.

Acute transverse myelitis (ATM) associated with COVID 19 infection and vaccination, A case report and literature review. (P10-5.022)

<h3>Objective:</h3> N/A <h3>Background:</h3> Acute transverse myelitis (ATM) is an inflammatory disorder, caused by many etiologies, whether post infectious or autoimmune. Rarely, TM cases have been reported after both COVID-19 infection and COVID-19 vaccination. We describe our experience with TM after COVID-19 infection and conduct a literature review. <h3>Design/Methods:</h3> We report a case of ATM after COVID-19 infection and present a comprehensive literature review of TM cases reported after COVID-19 infection and COVID-19 vaccination. The literature search was done using PubMed and Google scholar and selected peer-reviewed articles. The search included all cases from Jan 2020 to Sept 2022. <h3>Results:</h3> A total of 60 TM cases reported association with post-COVID-19 infection and 23 TM cases reported association with post-COVID-19 vaccinations. Among post-COVID-19 TM cases, the mean age was 49 years, and the youngest reported is 7month-old. 55% (33) of them are longitudinally extensive TM (LETM). The most common symptom is lower extremity weakness. 1 case was reported as necrotizing myelitis on biopsy, and another case was overlap syndrome of GBS with longitudinal TM. No cases reported the use of convalescent plasma therapy after infection. Almost all TM cases were treated with steroids, but some cases needed additional treatment since not all responded adequately. 6 cases (10%) responded with steroids + plasmapheresis, 5 cases (8%) responded with steroids + IVIG especially in the pediatric age group. One case reported a positive response after treatment with eculizumab, and another with infliximab. 2 cases (3%) remained paraparetic. Among post-covid-19 vaccine TM cases, 4 cases (17%) were reported LETM. 5 cases (21%) had symptom onset within a week after vaccination. Almost all of them reported responding with steroids except one case reported fatal after 58th day after vaccination. <h3>Conclusions:</h3> TM, post-COVID-19 infection, has been described in multiple cases, as well as being a rare complication of COVID-19 vaccination. <b>Disclosure:</b> Dr. Medavarapu has nothing to disclose. Dr. Anziska has nothing to disclose.

Multiple Spinal Metastases of Anaplastic Meningioma: A Case Report

Meningiomas are primary benign tumors that occur in intracranial and intraspinal regions. Rarely, atypical and anaplastic meningiomas exhibit malignant tendencies and can metastasize. A 56-year-old female patient visited the hospital complaining of a dull headache, mild dysarthria, sudden onset of blurred vision, and mild weakness in the left upper limbs. A homogeneously augmented mass was revealed in the right temporal lobe following magnetic resonance imaging (MRI) and was determined to be an anaplastic meningioma after surgical resection. During follow-up, revision surgery was performed due to the recurrence of the primary tumor. After the revision surgery, the patient complained of new symptoms, which included paresthesia and muscle weakness in the right lower extremity. MRI revealed a mass in the cervical and lumbar vertebrae suspected to have been metastasized. Another revision surgery was conducted on the intracranial primary tumor. The tumor was resected from the cervical and lumbar vertebrae. Histopathology revealed that they were all anaplastic meningiomas. Although anaplastic meningioma is rare, it can cause extracranial metastases. This case shows that multiple spinal metastases of anaplastic meningioma require considerable attention in diagnosis and treatment.

Scapular Winging In Patients With Anti-Hydroxy Methyl Glutaryl CoA Reductase (HMGCR) Antibody Positive Immune Mediated Necrotizing Myopathy (IMNM): A Case Series (P9-8.005)

<h3>Objective:</h3> To report examination finding of scapular winging in two patients with Anti-hydroxymethylglutaryl CoA reductase (HMGCR) antibody positive immune mediated necrotizing myopathy (IMNM). <h3>Background:</h3> IMNM is a disabling auto-immune myopathy characterized by severe proximal muscle weakness, markedly elevated creatine kinase (CK) and muscle necrosis. Diagnosis is made via muscle biopsy and antibody testing in a patient with a suggestive history, examination and laboratory abnormalities. <h3>Design/Methods:</h3> Case Series <h3>Results:</h3> Patient 1, a 46 year old male presented for evaluation of muscular dystrophy. He had proximal lower extremity muscle weakness, dysphagia and 20 lbs weight loss over 1 year duration. He was on statin in the past which was discontinued after he was found to have elevated liver enzymes. Examination was notable for mild eye closure weakness, bilateral scapular winging, leg &gt; arm, proximal &gt; distal weakness and abdominal weakness. CK was elevated to 12, 000 u/L. HMCCoA Ab was positive with elevated titer to 435.8. He was started on methotrexate and IVIG Q2 weeks. CK level down trended to 2652 U/L. Patient had significant improvement in his symptoms. Patient 2, a 58 year-old male presented with proximal upper and lower extremity muscle weakness, dysphagia and 10 lbs weight loss of over 4 month duration. He was on atorvastatin for over 3 years which was discontinued 1 month after symptom onset. Examination was notable for proximal muscle weakness in bilateral upper and lower extremities, right scapular winging and neck flexion weakness. CK was elevated to 7500. HMG COA reductase antibody was positive with elevated titer to 169.4. He was started on methotrexate and IVIG Q2 weeks. He also noted improvement in his symptoms. <h3>Conclusions:</h3> Scapular winging can be seen with HMGCR Ab+ IMNM. Such patients can be misdiagnosed having muscular dystrophy. Neurologists should be aware of this clinical phenotype as these patients may respond favorably to immunotherapy. <b>Disclosure:</b> Dr. Katyal has nothing to disclose. Dr. Goyal has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Argenx. Dr. Goyal has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for UCB. An immediate family member of Dr. Goyal has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Argenx. Dr. Goyal has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion.

A Case of Acute Motor Sensory Axonal Neuropathy, a Rare Form of Guillain-Barre Syndrome, Developing After Multiple COVID-19 Infections (P13-8.009)

<h3>Objective:</h3> Guillain-Barre syndrome (GBS), an autoimmune polyneuropathy characterized by ascending weakness and characteristic cerebrospinal fluid (CSF) findings, has been identified in patients previously diagnosed with COVID-19, treated for COVID-19 infection, or vaccinated against the same. GBS is divided into axonal and demyelinating subtypes, and confirmatory testing such as electromyography and nerve conduction studies can help differentiate between subtypes. Here we present a case with recurrent COVID-19 infections, most recently treated with bebtelovimab, who developed acute motor sensory axonal neuropathy (AMSAN), a rare variant of axonal GBS. <h3>Background:</h3> A 33-year-old female presented with progressive ascending weakness and sensory loss that started two weeks after COVID-19 infection. She was fully vaccinated, however, had four episodes of COVID-19 infection within the past year and a half. Two weeks after the most recent infection, which was treated with bebtelovimab, she developed rapidly progressive weakness and sensory impairment in bilateral lower extremities quickly involving upper extremities. She received two rounds of intravenous immunoglobulin (IVIG) three and five weeks after symptoms onset. Her symptoms continued to progress requiring hospitalization. Exam showed severe weakness in all limbs with distal muscle atrophy in upper extremities. Imaging was negative. CSF demostrated albuminocytological dissociation. Nerve conduction studies concluded severe motor and sensory axonal neuropathy with active denervation which led to the suspicion of Acute Motor and Sensory Axonal Neuropathy (AMSAN), a rare variant of GBS. She underwent plasmapheresis with only minimal improvement. <h3>Design/Methods:</h3> N/A <h3>Results:</h3> N/A <h3>Conclusions:</h3> Many cases of GBS have been reported after COVID-19 infection but only a few of them are about AMSAN. This case presents unique features including multiple COVID-19 infections despite prior vaccination, and the development of this rare variant of GBS. It raises the concern of multiple COVID-19 infections having a cumulative impact on peripheral nervous system leading to more severe forms of GBS with poor response to treatment. <b>Disclosure:</b> Dr. Narvaez Caicedo has nothing to disclose. Mr. Rao has nothing to disclose. Dr. Patel has nothing to disclose. Dr. Wu has nothing to disclose.

C9orf72-related Familial Amyotrophic Lateral Sclerosis Manifesting as Monomelic Amyotrophy of the Lower Extremity (P10-8.010)

<h3>Objective:</h3> To describe an atypical presentation of <i>C9orf72</i>-related familial amyotrophic lateral sclerosis (fALS) presenting as slowly evolving, largely monomelic amyotrophy. <h3>Background:</h3> The most common genetic mutation associated with fALS is a hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 gene (<i>C9orf72</i>). <i>C9orf72</i>-associated fALS tends to present with relatively more rapid progression than sporadic ALS and typically progresses to compromise both limb and bulbar function, though clinical heterogeneity can occur. <h3>Design/Methods:</h3> We describe the case of a 50-year-old woman with <i>C9orf72</i>-associated fALS manifesting as slowly progressive, mostly monomelic amyotrophy of the right lower extremity emerging over 15 years. <h3>Results:</h3> A 50-year-old woman presented in 2010 with weakness and wasting of the right leg that began in 2007. Her mother passed away at the age of 65 years-old, about 6 months after being diagnosed with apparently sporadic limb-onset ALS. Her initial neurological examination showed diffuse weakness, wasting, and fasciculations isolated to the right leg only, associated with diminished deep tendon reflexes in that extremity. She had an electromyographic study on presentation which showed widespread acute and chronic denervation in the right leg only. A diagnosis of fALS was confirmed by genetic testing which demonstrated a pathogenic mutation in the <i>C9orf72</i> gene. To date, she continues to demonstrate slow progression of weakness and wasting of the right lower extremity, with more recent minimal involvement of the proximal left lower extremity, and no upper motor neuron signs or upper extremity, respiratory, or bulbar involvement. <h3>Conclusions:</h3> Unlike most repeat expansion disorders, <i>C9orf72</i>-related fALS is not clearly associated with anticipation. Our case illustrates the extreme degree of clinical heterogeneity that can occur with this mutation and raises the possibility of other factors besides repeat expansion length being implicated, such as DNA methylation patterns and specific epigenes. <b>Disclosure:</b> Dr. Youn has nothing to disclose. Dr. Weiss has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for UCB-RA. Dr. Weiss has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Weiss has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Argenx. Dr. Weiss has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Alexion. Dr. Weiss has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amylyx. Dr. Weiss has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Weiss has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Soleo.

A Case of Seronegative NMOSD-Related Myelitis Masquerading as VZV-Related Myelitis (P13-5.013)

<h3>Objective:</h3> NA <h3>Background:</h3> Longitudinally extensive transverse myelitis (LETM) is caused by a myriad of etiologies. We present a case of Neuromyelitis Optica Spectrum Disorder (NMOSD)-related myelitis, initially seronegative, masquerading as VZV-related myelitis. <h3>Design/Methods:</h3> A case report. <h3>Results:</h3> A woman in her sixties reported a one-month history of bilateral lower extremity paresthesias and weakness. Days prior, she felt tingling on her back with eruption of a painful rash, and was diagnosed with varicella zoster (VZV). She had transient improvement, before worsening 2 months later with involvement of the arms and signs of myelopathy on exam. MR imaging revealed a long segment T2 hyperintense cord expansion extending from the medulla throughout the thoracic spine with additional hyperintensities in the conus medullaris with patchy enhancement. Work up was significant for lymphocytic-predominant CSF pleocytosis with elevated protein and IgG index. Serum VZV IgG was positive with negative IgM. CSF VZV PCR was negative. Aquaporin-4 antibody was negative. Testing for other causes of myelopathy was unrevealing. She was treated with IV Acyclovir, IV pulse steroids, and subsequently plasma exchange. She improved without further immunomodulation. Three months later, she had another attack and imaging showed new occipital enhancing lesion consistent with demyelination. At this visit, aquaporin-4 antibodies returned positive with a titer of 1:100. She received IV steroids and started rituximab. The patient was diagnosed with LETM from NMOSD. Due to symptom severity, she underwent plasma exchange despite a potential alternative etiology. VZV myelitis and her history of shingles were likely a red herring in the setting of her positive NMO testing. This emphasizes the importance of rechecking antibodies for high clinical suspicion, as the results can drastically influence management and outcome. In the presence of unconfirmed alternative etiologies, neurologists should have low threshold for aggressively treating inflammatory myelitis, using intravenous immunoglobulin or plasma exchange if indicated. <h3>Conclusions:</h3> NA <b>Disclosure:</b> Dr. Alshaer has nothing to disclose. Dr. Cavanagh has nothing to disclose. Dr. Antzoulatos has nothing to disclose.

Post Infectious Triggered Anti-Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) via CMV in an Immunocompetent Host (P10-5.030)

<h3>Objective:</h3> N/A <h3>Background:</h3> A previously healthy, immunocompetent 38-year-old female presented with initial complaints of subacute, waxing and waning high grade fevers, general malaise, and muscle aches for two weeks. Acutely she developed severe lumbar radiculopathy with significant urinary retention and bilateral lower extremity weakness leading to ED presentation. The patient was subsequently admitted with rapidly progressive lower extremity paraplegia and brisk reflexes over a 24-hour span. MRI imaging was notable for longitudinally extensive transverse myelitis (LETM) over continuous cervical and thoracic segments with significant gray matter involvement and left parahippocampal FLAIR hyperintensities Serum subsequently demonstrated positive anti-CMV IgM/IgG antibodies with a PCR load of 61 copies/mL indicative of a CMV infection with low viremia. LP CSF was CMV PCR negative with mildly elevated opening pressures and trace neurotrophic pleocytosis. Given stagnant clinical changes after five days of IV steroids, plasmapheresis was initiated with marked improvements in functional lower extremity strength. Soon afterwards, initial presenting lab work resulted, demonstrating high serum titers (1:2560) of anti-MOG antibodies. <h3>Design/Methods:</h3> N/A <h3>Results:</h3> N/A <h3>Conclusions:</h3> In immunocompetent hosts, CMV infection itself is a rarely described cause of inflammatory myelopathy with only 14 prescribed cases. With both deep gray matter FLAIR hyperintensities and cervical and thoracic LETM, a concomitant para-infectious CMV and new MOGAD is unlikely in our clinical setting. Additionally, systemic findings typically indicative of severe CMV infections such as retinitis, pericarditis/myocarditis, transaminitis, thrombocytopenia, and leukopenia were absent. Given prior reports of sequence similarities between MOG T-cell epitopes and a major capsid protein of CMV, molecular mimicry between antigen presenting cells has been hypothesized. Here we detail a first described case report of a possible post-infectious MOG antibody transverse myelitis triggered presumptively via CMV infection. Furthermore, presenting in an immunocompetent host, our case report highlights a further wrinkle into the pathophysiology and presence of post infectious triggered autoimmunity for MOGAD. <b>Disclosure:</b> Dr. Chen has nothing to disclose. Dr. Kwon has nothing to disclose.

Symptomatic Copper Deficiency Masquerading as Paraneoplastic Syndrome (P9-4.005)

<h3>Objective:</h3> To describe an unusual case of symptomatic copper deficiency initially suspected to be paraneoplastic syndrome. <h3>Background:</h3> Copper deficiency is exceedingly rare, especially in developed nations, and is usually the result of genetic deficit. It often presents with neuropathy, weakness and encephalopathy. In this case, we describe a case of copper deficiency presenting with weakness, hallucinations and encephalopathy initially mistaken for paraneoplastic syndrome in a patient recently diagnosed with breast cancer. <h3>Design/Methods:</h3> NA <h3>Results:</h3> Our patient is a 58 year old female with a history of recently diagnosed breast cancer who presented with new-onset lower extremity weakness and confusion. She was initially admitted to the medical-oncology service for management of her malignancy. During her hospitalization, she developed frank hallucinations and worsening encephalopathy. Neurologic workup including MRI brain, C and T-Spine, EEG, lumbar puncture with basic studies and autoimmune panel were negative. She got 3 days of IVIG and 5 days of PLEX with no improvement. The patient’s sister revealed for 8 weeks she had only been eating vegetables grown in her own garden. EMG revealed axonal sensorimotor neuropathy. Serum vitamins were checked and revealed a copper level of 30 ug/dL (80–120 ug/dL). She was started on IV copper replacement and slowly improved; she was seen in the clinic six months later with marked improvement of her mentation, but persistent lower extremity paraparesis. <h3>Conclusions:</h3> While vitamin deficiency—especially copper deficiency—is rare, it should be considered in cases where patients with weakness and neuropsychiatric symptoms have a benign neurologic workup and fail to respond to conventional immunologic therapies. <b>Disclosure:</b> Dr. Welsh has nothing to disclose. Dr. Hoskin has nothing to disclose.

A Case of Progressive Left Leg Weakness and Vision Changes: Focal Inflammatory Cerebral Amyloid Angiopathy Masquerading as a Glioma (P12-5.003)

<h3>Objective:</h3> To emphasize the need to consider tumefactive focal inflammatory cerebral amyloid angiopathy (CAA) in the differential diagnosis of CNS lesions. <h3>Background:</h3> Although classically considered an etiology of cognitive impairment in the elderly, CAA represents a spectrum of disease. CAA-related inflammation (CAA-ri), a distinct CAA phenotype, is characterized by vascular inflammation from amyloid deposition. CAA-ri may rarely appear as a tumefactive lesion, mimicking CNS malignancy. We present a case of biopsy-proven focal CAA-ri initially misidentified as a glioma, with the goal of increasing awareness of this entity. <h3>Design/Methods:</h3> Not applicable <h3>Results:</h3> A 68-year-old man with Parkinson’s disease presented with progressive left lower extremity weakness, word finding difficulty and vision changes. Neurological examination revealed Parkinsonian features, left homonymous superior quadrantanopia and left leg weakness. Brain MRI revealed a non-enhancing FLAIR hyperintensity in the subcortical right parieto-occipital lobe, with numerous susceptibility-weighted foci within this area, consistent with microhemorrhages versus vascular inflammation. Flash frozen pathology was initially suggestive of glioma, prompting lesionectomy. Final pathology revealed inflammation of small and medium sized blood vessels, multinucleated giant cells and positive Congo-red staining, consistent with necrotizing vasculitis and amyloid angiopathy. Treatment with steroids was deferred following risk-benefit analysis. <h3>Conclusions:</h3> We report a unique case of tumefactive CAA-ri, a clinicopathologic variant of CAA, manifesting as a mass-like lesion with distinguishing radiographic features. Our literature review identified only three prior reports of this entity. Clinical presentation depends on lesion size, location, and presence of edema and inflammation. While our patient lacked systemic co-pathologies, uterine involvement and carpal tunnel syndrome have been reported. Management relies on vascular risk modification, and steroids or immunosuppressants for active inflammation. Our case underscores the need to recognize CAA-ri in the differential of mass-like lesions. Recognizing the spectrum of CAA-related disease is key in understanding the natural history of the disease, and potential benefit of future anti-amyloid therapies. <b>Disclosure:</b> Dr. Mohammadi has nothing to disclose. Dr. Lilian has nothing to disclose. Mr. Chen has received research support from National Institues of Health. Michelle Offit, MS has nothing to disclose. Dr. Lin has nothing to disclose. Dr. Streicher has nothing to disclose. Dr. Sabharwal has nothing to disclose.

A Curious Case of Cocaine-Induced Hypokalemic Periodic Paralysis Mimicking Guillain-Barre Syndrome (P10-5.003)

<h3>Objective:</h3> To describe a rare cause of progressive ascending paralysis resembling Guillain-Barre Syndrome (GBS). <h3>Background:</h3> Cocaine inhibits the reuptake of monoamines at the synaptic cleft to prolong sympathetic output. This adrenergic hyperresponsiveness mimics thyrotoxicosis as it replicates sodium/potassium ATPase hyperactivity, causing a cellular influx of potassium (hypokalemia), hyperpolarization, and sodium channel inactivation that presents as sudden, painless muscle weakness and paralysis. <h3>Design/Methods:</h3> Consent obtained from patient. <h3>Results:</h3> A 30-year-old female with no past medical history was evaluated in the ED for acute lower extremity weakness that ascended to the upper extremities within &lt; 12 hours. Labs were significant for hypokalemia at 1.6, elevated inflammatory markers, elevated Free T4 at 2.58, and low TSH at &lt; 0.015. Urine drug screen was positive for cannabis and cocaine. Serum toxicology was negative. MRI of the T-spine and L-spine were unremarkable. Lumbar puncture was unremarkable. Cranial nerves were intact. Strength was 1/5 throughout, including at the neck. Flaccid tone. Lower extremity reflexes were 2+. Negative Babinski. Positive Hoffman bilaterally. Preserved sensation. The patient was admitted to the ICU, intubated for impending respiratory distress, and treated with IVIg. MRI of the C-spine was unremarkable. Further labs demonstrated elevated Free T3 at 7.13 and positive anti-TPO antibodies, significant for Grave’s disease. Urine labs were substantial for distal RTA. Anti-SSA and SSB antibodies were positive, indicating likely Sjogren’s syndrome (SS). Ganglioside panel was negative. Potassium was aggressively repleted. By day 1, the patient was moving all four extremities, and IVIg was discontinued. By day 2, she was successfully extubated. She was ambulating without difficulty on discharge. <h3>Conclusions:</h3> Secondary hypokalemic periodic paralysis may mimic Guillain Barre syndrome (GBS), a life-threatening demyelinating neuropathy that presents as rapidly progressive, symmetric, ascending paralysis or paresthesia with loss of reflexes. In our case, cocaine was the most plausible trigger for hypokalemia. <b>Disclosure:</b> Dr. Baumann has nothing to disclose. Dr. Rizvi has nothing to disclose. Ms. Alayon has nothing to disclose. Mr. Kendall has nothing to disclose. Dr. Shaffer has nothing to disclose. Dr. Mouhanna has nothing to disclose. Dr. Kenniff has nothing to disclose.

Electrodiagnosis of Multiple Cranial Neuropathies and Lumbosacral Polyradiculopathy in Tuberculous Meningitis: A Case Report

Cranial neuropathy and radiculopathy are common complications of tuberculous meningitis. However, the co-occurrence of these complications and the corresponding electrodiagnostic findings have rarely been reported. We report a patient diagnosed with tuberculous meningitis who presented with difficulty in smelling, facial paralysis, hearing loss, and severe weakness in the bilateral lower extremities. A neurological examination confirmed impaired function of the olfactory nerves. Electrodiagnostic studies, including a nerve conduction study, electromyography, and brainstem auditory evoked potential, revealed multiple cranial neuropathies involving the left facial nerve and bilateral vestibulocochlear nerves, as well as bilateral lumbosacral polyradiculopathies. In patients with tuberculous meningitis, multiple cranial neuropathies and polyradiculopathies can occur simultaneously as complications, and electrodiagnostic studies can enable an accurate diagnosis of these complications and an assessment of their severity.

Teaching NeuroImages: Cortical damage with leptomeningeal enhancement in neuromyelitis optica spectrum disorder

A 27-year-old woman presented with headache, weakness, and numbness in both lower extremities for 2 weeks. Two years ago, she had refractory hiccups and vomiting with associated area postrema lesions on MRI (figure, A–C). Workup for infectious disease was negative. Serum aquaporin-4–immunoglobulin G was positive. Recent MRI showed cortical damage adjacent to the cerebral falx with leptomeningeal enhancement (figure, D–F). Treatment with immunoglobulin and high-dose methylprednisolone produced a significant improvement of the symptoms and the follow-up MRI (figure, G–I). This patient's case is unusual, as neuromyelitis optica spectrum disorders rarely involve the cortex and pia mater.1,2

Teaching Neuro Images : Acute neurologic deficits due to surfer's myelopathy

A previously healthy 32-year-old man developed acute onset of lower extremity weakness (American Spinal Injury Association [ASIA]–motor L2-S1, grade 2/5), T8 sensory level, and loss of bowel and bladder control (ASIA Impairment Scale [AIS] C) while surfing. The patient was a novice surfer and recalled a prolonged period in prone hyperextension. MRI spine was consistent with surfer's myelopathy, a rare nontraumatic cause of myelopathy found in novice surfers (figure).1,2 The etiology is postulated to be due to dynamic compression of the artery of Adamkiewicz. The patient recovered full function with conservative management over 3 days. Full recovery is expected in patients with AIS B or better, as opposed to patients with AIS A, who typically do not recover.1

Teaching NeuroImages: Spinal xanthomatosis

A 57-year-old woman presented with a 20-year history of progressive lower extremity weakness, spasticity, and proprioception deficits. She was given a diagnosis of primary progressive multiple sclerosis at age 38. Her Achilles tendons were enlarged (figure 1). Brain MRI was normal. Spine MRI demonstrated T2-hyperintense signal involving the posterior and lateral columns (figure 2). Serum cholestanol level was elevated. CYP27A1 gene sequencing revealed 2 pathogenic variants, c.1183C>T(p.Arg395Cys) and c.410G>A(p.Arg137Gln), confirming the diagnosis of cerebrotendinous xanthomatosis (CTX). Spinal xanthomatosis is a rare variant of CTX presenting with progressive corticospinal and posterior column signs.1 Early treatment with chenodeoxycholic acid may improve outcomes.2

Nitrous Oxide-Induced Subacute Combined Degeneration in a 38-Year-Old Pregnant Female After Recreational Use

Nitrous oxide (N2O) misuse creates a diagnostic dilemma due to its clinical presentation, difficulty in identification, and toxicity related to its chronic abuse, with resultant morbidity and mortality. Chronic abuse can lead to myeloneuropathy and subacute combined degeneration in otherwise healthy individuals. Health professionals should be aware of the commercial availability and abuse of N2O by the public, and N2O toxicity should be included in the differential diagnosis in patients presenting with myelopathy of unknown etiology. A case report was conducted on a 38-year-old female at approximately 30 weeks of gestation who presented to the emergency department with worsening bilateral lower extremity numbness, tingling, and weakness. The patient admitted to nitrous oxide inhalation during the two months prior to admission. She reported using four cans of whippets per week (approximately 8 g of N2O per whippet) up to 50 cans per day (400 g N2O) prior to the onset of symptoms. An MRI of the cervical spine was performed, showing T2 hyperintensity from C2 to C6 involving dorsal columns indicative of subacute combined degeneration. The patient was treated with intravenous vitamin B12 due to the clinical and radiographic evidence of nitrous oxide-induced myelopathy. The pathophysiology of N2O toxicity involves the oxidation of the cobalt atom of cobalamin (vitamin B12) from its reduced active 1+ valent state to its oxidized inactive 3+ valent state. This oxidation inactivates the enzyme methionine synthetase. B12 is an essential cofactor for downstream DNA synthesis. Consequently, excess N2O creates functional B12 deficiency leading to irreversible nerve damage if left undiagnosed and untreated.

Guillain-Barré syndrome in remission of Ulcerative colitis: a case report

This case report provides a unique instance of a patient who developed Guillain-Barré syndrome (GBS) during the remission phase of ulcerative colitis (UC). GBS is a rare but severe autoimmune disorder affecting the peripheral nervous system, while UC is a chronic inflammatory bowel disease. The co-occurrence of GBS and UC is rare, and its underlying mechanisms are not well understood. The patient's medical history and the course of their treatment are discussed in detail to provide a comprehensive understanding of the condition.The onset of GBS in this case report was characterized by lower extremity weakness and numbness of the upper extremities, which is consistent with the typical symptoms of GBS. The electromyography (EMG) results showed low limb nerve conduction and velocity with low amplitude, which supports the diagnosis of GBS. The treatment involved intravenous (IV) methylprednisolone, which is a commonly used steroid in the management of GBS. The patient showed improvement in his symptoms, with the weakness and numbness disappearing and muscle strength recovering, which is in line with the expected outcome of treatment with steroids.This case report provides valuable insight into the complex interplay between GBS and UC, and the potential impact of autoimmune diseases on each other. The findings of this report will contribute to the existing literature on GBS and UC, and help healthcare professionals to make informed decisions regarding the diagnosis and management of these complex conditions. The report concludes with a discussion of the implications of the case and the need for further research to better understand the relationship between GBS and UC.

Case Report-Traumatic L5-S1 Instability: Are Upright Radiographs Potentially Dangerous?

Traumatic lumbosacral instability is a rare but potentially devastating injury. These injuries are frequently associated with neurologic injury and often result in long-term disability. Despite their severity, radiographic findings can be subtle, and multiple reports exist in which these injuries were not recognized on initial imaging. Transverse process fractures, high-energy mechanisms, and other injury features have been suggested as indications for advanced imaging, which has a high degree of sensitivity in detecting unstable injuries. A 21-year-old man presented to our level I trauma center after being ejected in a rollover motor vehicle collision. He sustained multiple injuries, including multiple lumbar transverse process fractures and a unilateral superior articular facet fracture of S1. Initial supine computed tomography (CT) images showed no displacement of the fracture and no listhesis or instability. Subsequent upright imaging in a brace, however, demonstrated significant displacement of the fracture with dislocation of the contralateral L5-S1 facet joint and significant anterolisthesis. The patient underwent open posterior reduction and stabilization of L4-S1 followed by L5-S1 anterior lumbar interbody fusion. The patient demonstrated excellent alignment on postoperative imaging. At 3 months postoperatively, he had returned to work, was ambulating without assistance, and reported minimal back discomfort and no lower extremity pain, numbness, or weakness. This case serves as a warning that supine CT imaging alone may not be sufficient to rule out unstable lumbar spine injuries, such as traumatic L5-S1 instability, and that upright radiographs in these potentially unstable injuries may represent a hazard to patients. Fractures involving the pedicle, pars, or facet joints as well as multiple transverse process fractures and/or a high-energy mechanism of injury should all raise suspicion of instability and warrant additional imaging. This article provides guidance on approaching treatment for patients with potential traumatic lumbosacral instability.

Thromboembolism An unusual way of tissue diagnosis of Squamous Cell Carcinoma of Lungs

Lung carcinoma presents in multifarious ways from incidental imaging finding to respiratory or systemic symptoms secondary to local invasion or metastasis. We report an atypical presentation of lung cancer. A 69-year-old male presented with sudden onset bilateral lower extremity weakness. He had cold bilateral lower extremity with no palpable pulses or Doppler signals in the lower extremity. A computed tomographic angiographic (CTA) scan revealed large thrombus in the infra-renal aorta and bilateral common iliac arteries with total occlusion. Bilateral endovascular thrombectomy along with fasciotomy was done. Immuno-histochemical staining of thrombectomy mass showed metastatic squamous cell carcinoma. Positron emission tomography (PET) scan revealed hypermetabolic right pulmonary hilar foci with hypermetabolic mediastinal nodes. Diagnosis of non-small cell lung carcinoma was made and subsequently, chemotherapy was started. Atypical presentation and tissue diagnosis of lung cancer via histopathological examination from endovascular thrombectomy are quite unique. Our case highlights the importance of analysis of thrombectomy mass.

Acute Lower Extremity Weakness in a Pediatric Gymnast.

Acute Lower Extremity Weakness in a Pediatric Gymnast.