Axonal Sensorimotor Polyneuropathy Research Articles

Neurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1 – A National Cohort Study

Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic disease caused by mutations in the autoimmune regulator gene. Although the disease-associated autoantibodies mostly target endocrine organs, autoantibodies from patients with APS-1 bind also to rat brain structures. The patients often have GAD65-antibodies, that can cause autoimmune encephalitis. However, neurological manifestations of APS-1 have not been systematically explored. We conducted a retrospective chart review on 44 Finnish patients with APS-1 (median age 38 years, 61% females) and collected all their neurological diagnoses. To assess the prevalence of serum antineuronal antibodies in APS-1, serum samples of 24 patients (median age 36 years, 63% females) were analyzed using a fixed cell-based assay. Of the 44 APS-1 patients, 10 (23%) had also received a diagnosis of a neurological disease. Of these neurological comorbidities, migraine (n = 7; 16%), central nervous system infections (n = 3; 7%), and epilepsy (n = 2; 5%) were the most prevalent. Other diagnoses recorded for single patients were axonal sensorimotor polyneuropathy, essential tremor, idiopathic intracranial hypertension, ischemic stroke, and trigeminal neuralgia. Serum antineuronal antibodies were detected in 42% of patients tested (10/24, 50% females, median age 42 years), GAD65 antibodies being the most common finding. Antibodies against glycine and aquaporin 4 were found in low titers. In four patients, relatively high titers of GAD65 antibodies without coexisting type 1 diabetes were found, but none presented with GAD65-encephalitis. Our study suggests an association between APS-1 and neurological disorders, the mechanisms of which are to be further investigated.

P026 Neurofascin antibodies complicating a case of severe systemic lupus erythematosus

Abstract Background/Aims Juvenile-onset systemic lupus erythematosus (jSLE) is an autoimmune disease that results in increased disease activity and damage compared to adult-onset SLE. There is increased medication burden, severe organ manifestations and higher incidence of renal, cardiovascular and neuropsychiatric (NP) involvement. Anti-nervous system (NS) antibodies are seen across immune mediated diseases including SLE. Myelin oligodendrocyte glycoprotein (MOG) and neurofascin (NF) 186 antibodies are particularly associated with higher frequencies of NP-SLE. These patients can present with the distinct clinical phenotype associated with that antibody (i.e., demyelination with MOG, neuropathy with NF186). Methods We present an SLE patient with progressive neurological features and anti-NF antibodies who responds well to ocrelizumab after modest response to initial immunotherapy. Results An 18 year old female has active jSLE including malar rash, alopecia, arthralgia, aphthous ulcers, headaches. She presents with lower limb and ascending abdominal paraesthesia and left 6th cranial nerve palsy alongside a recent respiratory tract infection. ANA 1:5120 homogenous pattern, high dsDNA, low C3 and C4, thrombocytopenia and antibodies to Sm, Ro, RNP, anti-Rib-P and strongly positive lupus anticoagulant antibodies and low titre anti-cardiolipin (aCL) IgG and IgM. Lumbar puncture is unremarkable. Nerve conduction studies (NCS) demonstrate progressive predominant motor inflammatory neuropathy without demyelination. CT, MRI brain and MRI spine are normal. She is treated as atypical Guillain-Barre Syndrome (GBS)/ Miller-Fischer with 5 days IV immunoglobulin 2g/kg and also for active SLE with 3 days 500mg IV methylprednisolone. She is intubated following worsening dysphagia, dysarthria, muscle weakness and reduced consciousness. Plasma exchange and pulsed cyclophosphamide are subsequently given. Eye and facial movements worsen with NCS showing worsening patchy axonal sensorimotor polyneuropathy. Serial MRI brain is suggestive of posterior reversible encephalopathy syndrome (PRES). Autonomic instability is seen with labile blood pressure and tachycardia. Given the unusual presentation, anti-NF antibodies are tested and identified at 1:3200 positive, NF155 and 186, both IgG1 and IgG2. Given previous adverse reaction to rituximab, she received ocrelizumab which lead to a marked improvement in her sensorimotor symptoms and functionality. C3 and C4 levels show considerable improvement which is sustained and dsDNA levels normalise. B cell depletion therapy was chosen following a small case series of patients with neurofascin antibodies who developed severe autoimmune neuropathies. Half of these patients responded well to rituximab. One proposed mechanism being the targeting of immature CD20+ B cells inhibits plasmablast generation, which may be responsible for neurofascin antibody production early on in the disease. Conclusion Anti-NS antibodies are seen in SLE patients and their presence can suggest increased frequency of NP-SLE suggesting a potential future role as a biomarker. One should consider anti-NF antibody testing in patients with a GBS-like illness with progressive neuropathy, respiratory involvement and autonomic dysfunction despite standard immunotherapy. Disclosure P. Yee: None. M. Mouyis: None.

A case series of post-infectious chikungunya myeloradiculoneuropathy

Chikungunya fever is an arboviral illness caused by chikungunya virus (CHIKV) and transmitted by the bite of Aedes aegypti and Aedes albopictus. It is an RNA virus belonging to the genus Alphavirus and family Togaviridae. We present a case series of three patients with chikungunya illness developing para/post-infectious myeloradiculoneuropathy.These patients developed neurological symptoms in the form of bilateral lower limb weakness with sensory and bowel involvement after the recovery from the initial acute episode of chikungunya fever. Clinical examination findings suggested myeloradiculoneuropathy with normal Magnetic Resonance Imaging of the Spine, with the nerve conduction study showing sensorimotor axonal polyneuropathy. All the patients were treated with 1 g of methylprednisolone once a day for five days, and case 2 was given intravenous immunoglobulin also. In the follow-up, cases 1 and 2 showed complete recovery without recurrence, and case 3 did not show improvement at one month.

Case series of pyridoxine-induced neuropathy

Excess of pyridoxine, in contrast to other nutrients, may result in neuropathy. Case reports are sparse, and little is known about the clinical and electrophysiological findings. Eight patients with pyridoxine-induced neuropathy were investigated, and a review of the literature was undertaken. Nerve conduction studies showed axonal sensory or sensorimotor polyneuropathy. And the blood levels of vitamin B6 were markedly elevated. After discontinuation of vitamin supplements, all patients showed no significant improvement in clinical and electrophysiological findings. Supplementation with pyridoxine at doses greater than 50 mg/day for extended durations may be harmful and should be discouraged.

Severe axonal motor neuropathy after heat stroke

A 22-year-old healthy man experienced heat stroke while hiking and collapsed, resulting in multiorgan failure, cerebral edema, and prolonged intensive care unit stay. He developed flaccid tetraplegia, facial weakness, and dysphagia, and was diagnosed with severe axonal sensorimotor polyneuropathy. Rehabilitation improved dysphagia, but he remained dependent on daily activities and required assistance for transfers. The prognosis of critical illness polyneuropathy is typically good in young, healthy individuals. Peripheral neuropathy is a rare complication of heat stroke due to hyperthermia-induced neuronal injury. As global temperatures continue to rise, it is essential to recognize the potential impact of climate change on the incidence of heat stroke and to implement public health interventions to mitigate its effects.

Anti-Hu antibody seropositive neuropathy with large and small fiber involvement mimicking alcoholic neuropathy: a case report

BackgroundAnti-Hu antibody neuropathy is considered a rare acquired peripheral neuropathy, but common among paraneoplastic syndromes. Typically, is described as subacute sensory neuronopathy and electrophysiological findings are usually suggestive of a sensory axonal neuropathy.Case presentationWe report the case of a 67-year-old man referred to our clinic with a 4-month history of progressive pain and paresthesias of distal lower limbs. He had a 30-year history of alcohol abuse and smoking. Alcoholic neuropathy was considered the most likely diagnosis, considering his history and evaluation. The patient’s neurological examination revealed symmetric bilateral superficial and deep sensory loss in the lower extremities, reduced Achilles tendon reflexes and wide based gait. Electrophysiological testing was suggestive of axonal sensory-motor polyneuropathy and small fiber involvement. Even though alcohol consumption was discontinued, symptoms gradually worsened. Further testing was performed and the patient was found seropositive for anti-Hu antibody. Small-cell lung cancer was detected later, but patient passed away before treatment for cancer was administrated.ConclusionsThe aim of our paper is to report a case of a rare paraneoplastic syndrome that can cause progressive sensory-motor neuropathy with large and small fiber involvement, which should be rapidly differentially diagnosed from other neuropathies, so that the underlying cause can be identified and, potentially, treated.

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

BackgroundPerrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP, ERAL1, HARS2, HSD17B4, LARS2, and TWNK genes. All reported cases due to TWNK variants have included neurologic features, such as ataxia and axonal sensorimotor neuropathy.Case presentationA 4.5-year-old female presented to neuromuscular clinic due to ataxia. Neurological examination revealed truncal ataxia and steppage gait, reduced deep tendon reflexes, and axonal sensorimotor polyneuropathy. Auditory brainstem response testing revealed an uncommon type of sensorineural hearing loss known as auditory neuropathy/auditory synaptopathy (AN/AS) affecting both ears. Magnetic Resonance Imaging (MRI) revealed subtle cauda equina enhancement. Nerve conduction studies led to a provisional diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP), and intravenous immune globulin (IVIG) was initiated. The patient was unresponsive to treatment, thus whole exome testing (WES) was conducted in tandem with IVIG weaning. WES revealed a compound heterozygous state with two variants in the TWNK gene and a diagnosis of Perrault Syndrome was made.ConclusionsPerrault Syndrome should be considered in the differential for children who present with bilateral sensorineural hearing loss, axonal polyneuropathy, and ataxia. Further examination includes testing for ovarian dysgenesis and known PRLTS genetic variants.

Our Experience on Unusual Manifestations of Hansen’s Disease - A Case Series

Abstract Hansen’s disease is caused by an acid–fast bacillus – Mycobacterium leprae. Diagnosis of Hansen’s disease is mainly clinical. Hence, it is crucial to be aware of its diverse manifestations. We hereby report three such cases of Hansen’s disease with uncommon presentation. Case 1: A 26-year-old male presented with progressive numbness and multiple skin lesions over both upper and lower limbs in the past 3 years. Case 2: A 26-year-old male presented with tingling sensation of both upper limbs and lower limbs along with multiple skin lesions all over the body in the past 10 months. Case 3: A 39-year-old male presented with multiple joint pain, electric shock-like sensation of both upper limbs, and weakness of both hands along with skin rashes all over the body in the past 1 month. Skin examination of all these patients revealed multiple hypoanesthetic erythematous patches in the involved areas. Nerve conduction study was suggestive of asymmetric sensory motor axonal polyneuropathy. Skin biopsy from the lesions of the first patient revealed epithelioid granulomas suggesting borderline tuberculoid leprosy. Ziehl–Neelsen stain was positive for both fragmented and intact bacilli in the second and third cases, suggesting lepromatous leprosy. All of them were treated successfully with antileprosy drugs. It is essential to consider leprosy as a differential diagnosis in all patients presenting with symptoms of peripheral neuropathy, so that an early diagnosis and treatment is possible.

Sensory-motor polyneuropathy due to the use of antiparasitic drugs: A case report

Introduction: The term polyneuropathy refers to a generalized involvement of peripheral nerves, usually involving mainly the distal nerves and, more often, presenting with sensory, motor, and autonomic symptoms and clinical findings. Drug-induced peripheral neuropathy (DIPN) is a persistent condition, most often associated with anticonvulsants, chemotherapy, cardiovascular, psychotropic, and antimicrobial drugs, such as Metronidazole. In this article, we report the case of a patient who developed polyneuropathy secondary to the use of Metronidazole. Case Report: D.D.S.L., a 45-year-old female, previously healthy, presented with abdominal discomfort. Entamoeba histolytica was detected after investigation, and she started a 7-day cycle of 500 mg of Metronidazole three times a day for seven days, without clinical response. A new therapeutic approach was attempted, with three cycles of 2 grams of Secnidazole single dose and Tinidazole for four weeks. However, the patient presented dysesthesia in the distal third of the thighs, followed by allodynia in the four limbs and trunk. After new abdominal discomfort, three months after the first medication cycle, another pharmacological cycle was started. Neurological examination and electroneuromyography (ENM) examination suggested axonal sensorimotor polyneuropathy in all four limbs. Conclusion: Polyneuropathy can be caused by many factors, including some frequently prescribed drugs such as Metronidazole and other medications in the 5-nitroimidazole group. Therefore, although the relationship between these drugs and polyneuropathy is not fully elucidated, their neurotoxicity is indisputable, even in rare cases, but with significant variability in terms of the dose-dependent potential for this disease.

Just supplement Thiamine! A simple yet dramatic solution! (P9-4.004)

<h3>Objective:</h3> We present a case showing how while the diagnostic process in neuropathy may be long and cumbersome, the solution is usually simple, dramatic and life changing. <h3>Background:</h3> 55-year-old female with acute-on-chronic, rapidly progressive numbness and weakness. She first noted numbness and tingling in her feet over 8 years ago, but with rapid progression over the past year up to her trunk and hands. She presented to the ER after falling in the house, laying on the floor for hours, unable to be lifted by her husband. Examination revealed several bruises, symmetric wasting of upper and lower extremity muscles, proximal greater than distal weakness, loss of pinprick, vibration and temperature sensation from toes up to the thighs. She was areflexic with bowel and bladder incontinence and urine retention of 1L on arrival. She gave a history of excessive alcohol intake since her teenage years, with a heavy increase in intake over the COVID pandemic due to loss of employment and depression. Low folic acid, ESR 72, CT abdomen notable for steatohepatitis, fecal loading and urine retention. CSF analysis showed no albumino-cytological dissociation. Autoimmune workup, RPR, B12, serum copper, CSF paraneoplastic panel, CT chest, MRI brain and complete spine were unremarkable. EMG/NCV showed moderate, length dependent, sensory-motor axonal polyneuropathy. <h3>Design/Methods:</h3> N/A <h3>Results:</h3> She was started on high dose thiamine and folic acid supplementation in hospital. Initially, she was unable to feed herself, turn in bed or sit without support. She slowly recovered, regained continence and can ambulate independently with a walker now. She can play the piano. <h3>Conclusions:</h3> Thiamine associated neuropathy or Dry Beri-Beri can present with axonal predominant sensorimotor polyneuropathy that can mimic Guillain Barre Syndrome. While workup for other etiologies of neuropathy should be simultaneously pursued in alcoholics, thiamine supplementation is a simple treatment that can lead to satisfying and dramatic results. <b>Disclosure:</b> Dr. Bhende has nothing to disclose. Dr. Zafar has nothing to disclose. Dr. Prabhu has nothing to disclose. Dr. Undavia has nothing to disclose.

POEMS syndrome associated with vitiligo (P13-8.007)

<h3>Objective:</h3> To report a case of POEMS syndrome with vitiligo. This is the second case to be reported and the first in an Afro-American patient. <h3>Background:</h3> POEMS syndrome is a rare plasma-cell disorder with multisystem involvement, characterized by the acronym composing its name: Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein (M-protein), and Skin changes. Major criteria include mandatory polyneuropathy and monoclonal plasma cell proliferative disorder in addition to Castleman’s disease, sclerotic bone lesions, or elevated vascular endothelial growth factor (VEGF). Minor criteria, still helpful for diagnosis, include organomegaly, endocrinopathy, papilledema, thrombosis, and skin changes, the most common being hyperpigmentation. <h3>Design/Methods:</h3> Case Presentation <h3>Results:</h3> A 50-year-old Afro-American male presented with 3 years of ascending stocking-glove pattern numbness and skin discoloration in his feet. Other positive history included anhidrosis, heat intolerance and erectile dysfunction suggestive of dysautonomia. Medical history included hypoparathyroidism and idiopathic cirrhosis. He did not have history of alcohol overuse, diabetes, or glucose intolerance. Examination revealed confluent hypopigmented macules in feet, vibratory sensation impairments up to knees, absent temperature sensation in feet, and abnormal Romberg test and tandem gait. Remainder of the neurological examination was normal. Laboratory tests were significant for elevated free kappa and lambda light chains, plasma VEGF levels twice over normal range, and an IgA monoclonal band on serum protein electrophoresis. Other relevant laboratory findings included PTH-independent hypercalcemia and alkaline phosphatase elevation. Radiographs of hands, elbows, shoulders, and knees disclosed non-sclerotic lytic lesions. Nerve conduction studies were consistent with a sensorimotor axonal polyneuropathy. The patient met diagnostic criteria for POEMS syndrome. Autologous stem cell transplantation was recommended but the patient declined. His vitiligo, neuropathy, and monoclonal gammopathy remain stable under surveillance at 4 years without pharmacotherapy. <h3>Conclusions:</h3> POEMS syndrome should be suspected in any patient with new onset of vitiligo in the presence of an underlying polyneuropathy and a monoclonal plasma cell proliferative disorder. <b>Disclosure:</b> Dr. Landman has nothing to disclose. Dr. Escobar-Montealegre has nothing to disclose. Dr. Singh has nothing to disclose. Dr. Morales has nothing to disclose. Dr. Rossi has nothing to disclose.

Kappa Light Chain Deposition Disease Presenting with Axonal Sensorimotor Polyneuropathy in the Absence of Clinically Significant Renal Pathology (P11-8.012)

Kappa Light Chain Deposition Disease Presenting with Axonal Sensorimotor Polyneuropathy in the Absence of Clinically Significant Renal Pathology (P11-8.012)

Clinical Reasoning: A 14-Year-Old Girl With Reversible Peripheral Neuropathy and Encephalopathy.

A 14-year-old girl presented with acute ascending, symmetric numbness and flaccid paralysis three weeks after a suspected gastrointestinal infection. She had experienced anorexia since this gastrointestinal episode. EMG showed a sensorimotor axonal polyneuropathy. Routine CSF analysis and serum-specific antibodies (anti-ganglioside and node of Ranvier-associated antibodies) were all negative. Laboratory investigations for possible etiologies only revealed mild metabolic perturbations. During her hospitalization, she developed mild cognitive deficits. Brain MRI showed bilateral symmetric basal ganglia lesions with hyperintensity on T2-FLAIR, DWI hyperintensity and corresponding ADC hypointensity, but without contrast enhancement. A more thorough and detailed history indicated exercise intolerance, and specific examinations subsequently revealed an underlying etiology. This case presentation discusses specific etiology of an acute-onset, diffuse and symmetric neuropathy after an acquired injury in a teenager, emphasizing the need of a broad differential diagnosis in this condition.

Clinical Spectrum and Prognosis in Patients With Acute Nutritional Axonal Neuropathy.

To describe the clinical, micronutrient, and electrophysiologic spectra and prognosis in patients with acute nutritional axonal neuropathy (ANAN). Patients with ANAN were identified between 1999 and 2020 by a retrospective review of our EMG database and electronic health records and categorized on clinical and electrodiagnostic grounds, as pure sensory, sensorimotor, or pure motor; and by risk factor (alcohol use disorder, bariatric surgery, or anorexia). Laboratory abnormalities were recorded including thiamine, vitamin B6, B12, and E, folate, and copper. Ambulatory and neuropathic pain status at last follow-up were recorded. Of 40 patients with ANAN, 21 had alcohol use disorder, 10 were anorexic, and 9 had recently undergone bariatric surgery. Their neuropathy was pure sensory in 14 (7 with low thiamine), sensorimotor in 23 (8 with low thiamine), and pure motor in 3 (1 with low thiamine). Vitamin B1 was most commonly low (85%), followed by vitamin B6 (77%) and folate (50%). The risk factor and neuropathy type were not associated with a particular micronutrient deficiency. Of the 37 patients who were seen in follow-up, only 13 (35%) were walking independently, and only 8 (22%) were pain free at the last follow-up visit at a mean of 22 months (range 2-88 months) from onset. The spectrum of ANAN is wide, ranging from: (1) a pure sensory neuropathy with areflexia, limb and gait ataxia, neuropathic pain, and unevocable sensory responses to (2) a motor axonal neuropathy with low-amplitude motor responses without conduction slowing, block, or dispersion, and (3) a mixed sensorimotor axonal polyneuropathy. Specific micronutrient deficiencies or risk factors do not predict neuropathy subtype. The subgroup of patients with ANAN with documented thiamine deficiency also range from pure sensory to pure motor, and only a minority have Wernicke encephalopathy. We do not know whether coexistent micronutrient deficiencies may help explain the wide clinical spectrum of thiamine-deficient ANAN. The prognosis of ANAN is guarded due to residual neuropathic pain and slow recovery of independent ambulation. Therefore, early recognition of patients at risk is important.

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling

BackgroundRecessive loss-of-function variations in HINT1 cause a peculiar subtype of Charcot-Marie-Tooth disease: neuromyotonia and axonal neuropathy (NMAN; OMIM[#137200]). With 25 causal variants identified worldwide, HINT1 mutations are among the most common causes of recessive neuropathy. The majority of patients are compound heterozygous or homozygous for a Slavic founder variant (c.110G>C, p.Arg37Pro) that has spread throughout Eurasia and America.ResultsIn a cohort of 46 genetically unresolved Lithuanian patients with suspected inherited neuropathy, we identified eight families with HINT1 biallelic variations. Most patients displayed sensorimotor or motor-predominant axonal polyneuropathy and were homozygous for the p.Arg37Pro variant. However, in three families we identified a novel variant (c.299A>G, p.Glu100Gly). The same variant was also found in an American patient with distal hereditary motor neuropathy in compound heterozygous state (p.Arg37Pro/p.Glu100Gly). Haplotype analysis demonstrated a shared chromosomal region of 1.9 Mb between all p.Glu100Gly carriers, suggesting a founder effect. Functional characterization showed that the p.Glu100Gly variant renders a catalytically active enzyme, yet highly unstable in patient cells, thus supporting a loss-of-function mechanism.ConclusionOur findings broaden NMAN’s genetic epidemiology and have implications for the molecular diagnostics of inherited neuropathies in the Baltic region and beyond. Moreover, we provide mechanistic insights allowing patient stratification for future treatment strategies.

Investigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia

BackgroundHereditary spastic paraplegia (HSP) is a heterogeneous group of inherited neurodegenerative disorders characterized by slowly progressive lower limbs spasticity and weakness. HSP type 30 (SPG30) is a HSP subtype caused by mutations in the kinesin family member 1A gene (KIF1A) and could be either autosomal dominantly or recessively inherited. The aim of this study was to investigate the clinical and genetic features of KIF1A mutations in a Taiwanese HSP cohort. MethodsMutational analysis of KIF1A was performed in 242 unrelated Taiwanese patients of Han Chinese ethnicity with clinically suspected HSP using targeted resequencing panel covering the entire coding regions of KIF1A. Clinical, electrophysiological and neuroimaging features of the HSP patients carrying a KIF1A mutation were characterized. ResultsThree different KIF1A mutations were identified in three patients with autosomal dominantly inherited HSP. Among them, KIF1A p.E19K was a novel mutation. The patient harboring KIF1A p.G321D presented with pure HSP, while the individuals carrying KIF1A p.E19K or p.R316Q manifested complex HSP with additional axonal sensorimotor polyneuropathy. The patients carrying KIF1A p.R316Q also had thoracic cord atrophy, thin corpus callosum and white matter hyperintensity. ConclusionSPG30 accounts for 1.2% (3/242) of patients in the Taiwanese HSP cohort, suggesting that it is an uncommon HSP subtype in Taiwan. This study delineates the clinical and genetic features of SPG30 in Taiwan and provides useful information for the diagnosis and management of SPG30, especially in patients of Han Chinese descent.

Severe Isolated Peripheral Polyneuropathy without Myelopathy after Nitrous Oxide Abuse: A Case Report

Nitrous oxide (N2O) abuse induces vitamin B12 deficiency, resulting in complications in the central and peripheral nervous systems. Some cases related to subacute combined degeneration or myeloneuropathy after N2O abuse have been reported. However, isolated peripheral polyneuropathy without spinal cord involvement has rarely been reported in South Korea. We describe a 29-year-old woman who had inhaled “happy balloons” daily (1,000 balloons/day) for recreational purposes over 3-month period, and presented with acute symmetrical hypoesthesia, paresthesia, and motor weakness on the bilateral lower limbs. Serologic tests showed megaloblastic anemia and vitamin B12 deficiency. Magnetic resonance imaging of the brain and spine showed no abnormalities. An electrodiagnostic study confirmed lower limb-dominant axonal sensorimotor polyneuropathy due to vitamin B12 deficiency from N2O abuse. The patient was treated with intramuscular vitamin B12 replacement. A follow-up electrodiagnostic study 4 months after the initial study showed only partial improvement. Despite the legal efforts of the Korean government to ban the use of N2O other than for medical purposes, cases of complications from its abuse are on the rise, especially among young adults. Physicians should recognize the strong possibility of N2O abuse as an underlying cause of vitamin B12 responsive polyneuropathy with or without spinal cord involvement.

Case report of Sleromyxedema with sensory motor axonal polyneuropathy treated with immunoglobulin therapy

Sleromyxedema is a rare disease characterised by extensive mucin deposition with fibrosis in dermis. It is often associated with monoclonal gammopathy. Its true prevalence and/or cause is unknown due to its rarity. Various extra-cutaneous manifestations can be associated with sleromyxedema such as dermoneuro syndrome, neuropathy, rheumatological problems or various malignancies. This case report showed that a patient with sleromyxedema and neuropathy had positive outcomes when treated with intravenous immunoglobulin (IVIg) and steroids pulses. The underlying cause of the patient’s condition was unknown.

Hepatic Involvement in Eosinophilic Granulomatosis with Polyangiitis

We presented a case report of Eosinophilic Granulomatosis with Polyangiitis (EGPA) with hepatic involvement which presented itself as multiple nodules in the liver. This confirmed Hprevious literature results, which have reported hepatic involvement in EGPA. The results of the study showed a 45-year-old female with asthma, presented with polyarthralgia, hypostasis in both hands and skin lesions on the body. Lab tests revealed elevated Erythrocyte Sedimentation Rate (ESR) and C-Reactive Protein (CRP). The total Leukocyte count was 11900 (/ul) with 22% Eosinophil. Computed Tomography (CT) scan of both lungs and liver showed multiple irregular nodules. In the biopsy of the skin lesions, Eosinophilic Vasculitis was reported. Electromyography and Nerve Conduction Velocity (EMG-NCV) was compatible to C8-T11 radiculopathy and Axonal Sensory Motor Polyneuropathy. According to the tests and biopsies the patient was diagnosed with EGPA. Although EGPA is characterized by asthma, hypereosinophilia and vasculitis, it can be presented with atypical manifestations as well.

Paraneoplastic Severe Sensorimotor Axonal Polyneuropathy in Pancreatic Neuroendocrine Carcinoma: A Case Report and Review Of The Literature

Objective: Paraneoplastic neurological syndromes (PNSs) are a diverse group of neurological disorders affecting any part of the nervous system before or during cancer. Case: A 78-year-old patient had pain and burning sensation first in the upper extremity 3 years ago, and then, muscle weakness was added a short time later. The same symptoms developed in the lower extremities 1 year ago. He was admitted to the intensive care unit due to pneumonia and was conscious but quadriplegic with a modified Rankin score of 5. Abdominal computed tomography showed mass lesions in the liver and pancreas. The biopsies demonstrated pancreatic small cell neuroendocrine carcinoma. Electrophysiological studies disclosed severe sensorimotor axonal polyneuropathy. Since other polyneuropathy causes were excluded, the diagnosis was paraneoplastic sensorimotor axonal polyneuropathy. Palliative care was considered because the patient had a poor functional state. Conclusion: Early cancer diagnosis is paramount in patients with PNSs to have appropriate therapy.