Axonal Sensorimotor Polyneuropathy Research Articles

Immune Checkpoint Inhibitor (ICI) Associated Atypical Painful Axonal Sensorimotor Polyneuropathy

Immune Checkpoint Inhibitor (ICI) Associated Atypical Painful Axonal Sensorimotor Polyneuropathy

7654 Unusual Case of Lipodystrophy: A Novel Disease Phenotype?

Abstract Disclosure: M. Celik Guler: None. E.D. Frontera: None. K. Hoose: None. M.C. Foss de Freitas: Advisory Board Member; Self; PTC Therapeutics. Speaker; Self; Amryt. L. Douyon: None. E.A. Oral: Advisory Board Member; Self; Amryt, Regeneron Pharmaceuticals. Consulting Fee; Self; Regeneron Pharmaceuticals, Amryt, Third Rock Ventures. Grant Recipient; Self; Regeneron Pharmaceuticals, Amryt. Research Investigator; Self; Novo Nordisk, Ionis Pharmaceuticals Inc., Fractyl, GI Dynamics, Rhythm Pharmaceuticals. Other; Self; Amryt. Background: Lipodystrophy syndromes (LD) are rare disorders characterized by varying degrees of adipose tissue deficiency that can predispose individuals to severe metabolic complications. Although these syndromes are traditionally subclassified based on inheritance patterns and the degree of adipose tissue loss, patients may exhibit highly heterogeneous clinical presentations. In this context, we report a unique case of partial lipodystrophy with an unusual distribution of adipose tissue that likely represents a novel syndrome and challenges conventional phenotypes. Clinical Case: A 60-year-old Puerto Rican female patient with medical history of type 1 diabetes mellitus (DM), obesity, hyperlipidemia, irritable bowel syndrome, asthma, and coronary artery disease was referred to us for unexplained asymmetric distribution of adipose tissue. She had chronic left posterolateral hip pain and lipoatrophy in her left lower extremity. Her medical history showed that she was born approximately 7 lbs., with no evidence of trauma during delivery. Her mother was given an unknown medication for improving circulation to the placenta. She had a morphea like rash on the arms and chest wall more prominent on the left upper body at birth. In addition, a dimple on her hip was noticed by her mother during the early stages of infancy. Despite the normal progression of neurological development (walking/climbing stairs), she always had a very mild limp. Also, her right arm was always 2 inches larger than her left arm. When she gained weight, she also put on more asymmetric weight on the left side of the abdomen and left lower torso. She had been treated with insulin injections since she was diagnosed with diabetes at the age of 11. She never demonstrated any islet cell specific antibodies. She had a normal weight until pregnancy at the age of 27, during which she gained 20 lbs. Her weight continued to increase over time, and the maximum was 212 lbs. Her examination reveals a BMI of 41.46 kg/m² with excess fat in the right arm, mid-section, left thigh, and left mons pubis. Conversely, only the left leg appears to demonstrate specific fat atrophy, with a near-total loss of adipose tissue starting from the mid-gluteal region. The hip MRI result reported moderate osteoarthritis of the left hip. EMG revealed signs of length-dependent sensorimotor axonal polyneuropathy and long duration/large amplitude motor unit potentials isolated only in the left medial gastrocnemius muscle. Triglyceride level was 73 mg/dL, HbA1c level was 6.8%, with an average total insulin dosage of around 43 IU/day. There was no history of pancreatitis due to hypertriglyceridemia. Conclusion: Our case highlights the heterogeneity of the lipodystrophy spectrum with a novel presentation of lipodystrophy. In addition, there may be homeostatic control of deposition of fat to seek symmetry between upper versus lower and right versus left sided depots. Presentation: 6/1/2024

Top 10 Clinical Pearls in Vasculitic Neuropathies.

Vasculitic neuropathies are a diverse group of inflammatory polyneuropathies that result from systemic vasculitis (e.g., polyarteritis nodosa, granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis, microscopic polyangiitis), vasculitis resulting from rheumatological disorders (e.g., rheumatoid arthritis and Sjögren's syndrome), paraneoplastic conditions, viruses, and medications. Occasionally, vasculitis is restricted to the peripheral nerves and termed nonsystemic vasculitic neuropathy. Presenting with an acute or subacute onset of painful sensory and motor deficits, ischemia to individual peripheral nerves results in the classic "mononeuritis multiplex" pattern. Over time, overlapping mononeuropathies will result in a symmetrical or asymmetrical sensorimotor axonal polyneuropathy. The diagnosis of vasculitic neuropathies relies on extensive laboratory testing, electrodiagnostic testing, and nerve and/or other tissue biopsy. Treatment consists primarily of immunosuppressant medications such as corticosteroids, cyclophosphamide, rituximab, methotrexate, or azathioprine, in addition to neuropathic pain treatments. Frequently, other specialists such as rheumatologists, pulmonologists, and nephrologists will comanage these complex patients with systemic vasculitis. Prompt recognition of these conditions is imperative, as delays in treatment may result in permanent deficits and even death.

Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder presenting with cerebellar ataxia, sensory-motor axonal neuropathy, oculomotor apraxia, cerebellar atrophy and high alpha-fetoprotein (AFP) serum level. AOA2 is due to coding mutations of the SETX gene, mapped to chromosome 9q34. Seldom noncoding mutations affecting RNA processing have been reported too. To date psychiatric symptoms have never been reported in AOA2. A 19 years-old man came to our attention for progressive gait ataxia debuted five years earlier. His past medical history was unremarkable, while his parents were consanguineous. On neurological examination, he had bilateral horizontal gaze-evoked nystagmus with hypometric saccades and saccadic horizontal smooth pursuit, appendicular ataxia, limbs and trunk myoclonic involuntary movements with hands' dystonic postures and dance of the tendons. Psychological evaluation described intrusive and obsessive thoughts experienced by the patient, then diagnosed as obsessive-compulsive disorder. Blood tests detected an elevated AFP level. Brain MRI showed cerebellar atrophy, while electroneuromyography revealed an axonal sensory-motor polyneuropathy. In the suspicion of a pathology belonging to the autosomal recessive cerebellar ataxias (ARCA) spectrum disorder, a direct search of point mutations by whole-exome sequencing was performed revealing a novel biallelic variant in SETX gene (c.6208+2dupT), which was classified as likely pathogenic. The present case expands the genotypic and phenotypic spectrum of AOA2, reporting a novel likely pathogenic SETX mutation (c.6208+2dupT) and highlighting an early psychiatric involvement in AOA2, suggesting the need for psychiatric assessment in these neurologic patients.

Defining the landscape of TIA1 and SQSTM1 digenic myopathy

TIA1/SQSTM1 myopathy is one of the few digenic myopathies. We describe four new French adult male patients carrying the TIA1 p.Asn357Ser and SQSTM1 p.Pro392Leu variant and review the literature to include 20 additional cases to define the spectrum of the disease. These twenty-four patients (75% males) had late-onset (52,6 ± 10,1 years), mainly asymmetric, distal ankle and hand finger extension weakness (75%), mild CK elevation (82.4%) and myopathic EMG. Two of the four French patients had sensorimotor axonal polyneuropathy and an additional one had neurogenic changes in muscle biopsy. Muscle biopsy showed rimmed vacuoles (44.4%), myofibrillar disorganization (16.7%) or both (38.9%), with P62/TDP43 aggregates. The TIA1 p.Asn357Ser variant was present in all patients and the SQSTM1 p.Pro392Leu was the most frequent (71%) of the four reported SQSTM1 variants. We reviewed the distal myopathy gene panels of Pitié-Salpêtrière's hospital cohort finding a prevalence of 11/414=2.7% of the TIA1 p.Asn357Ser variant, with two patients having an alternative diagnosis (TTN and MYH7) with atypical phenotypes, resembling some of the features seen in TIA1/SQSTM1 myopathy. Overall, TIA1/SQSTM1 myopathy has a homogenous phenotype reinforcing the pathogenicity of its digenic variants. We confirm an increased burden of the TIA1 p.Asn357Ser variant in distal myopathy patients which could act as a genetic modifier.

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.

A treatable case of hereditary transthyretin amyloidosis with polyneuropathy masquerading as motor neuron disease

Hereditary transthyretin amyloidosis is a progressive, life-threatening disease that typically presents as length-dependent symmetric axonal sensorimotor polyneuropathy, restrictive cardiomyopathy, or a combination of both. In this case report, we describe a 50-year-old gentleman with a rare motor phenotypic variant of hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) masquerading as motor neuron disease. This case represents the first reported association between the motor phenotypic variants of hATTR-PN and mutations involving p.Ala117Ser, a mutation prevalent in the Chinese population.

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.

Hypomagnesaemia

Background: Diabetes is one of the leading causes of morbidity in India, and diabetic neuropathy is its major complication causing a reduced quality of life. Besides chronic hyperglycaemia, non-glycaemic pathophysiology of insulin resistance and neuronal damage are key to developing novel diabetes management strategies like correcting serum magnesium. Aims: We aimed to analyse hypomagnesemia and its correlation with diabetes and diabetic peripheral neuropathy. Materials and Methods: We conducted a cross sectional study, collecting data for a year (2019-2020) in GMC, Kota. Pearson correlation was performed between serum Magnesium and HbA1C, as well as serum magnesium and nerve conduction parameters. Patients classified based on the absence or presence of neuropathy were compared for various biochemical parameters using Unpaired t-tests, with Welch's correction. Results: Pearson correlation indicates an inverse relationship between hypomagnesemia and hyperglycaemia (HbA1c) (r = -0.5568; P < 0.001), irrespective of neuropathy. Hypomagnesemia has a significant correlation with DPN, such that low serum magnesium has a positive correlation with nerve amplitude (in all the tested nerves) and conduction velocity (in sensory nerves). The pattern of DPN in our study was predominantly sensorimotor axonal polyneuropathy. Mixed axonal and demyelinating neuropathy was seen in sensory nerves. Latency was not affected by serum magnesium concentration in any peripheral nerve tested. T2DM patients with neuropathy had significantly lower serum magnesium, higher HbA1C and serum creatinine than in patients without DPN. Conclusions: Apart from controlling hyperglycaemia, non-glycaemic corrections are also needed to manage the diabetic complications. Serum magnesium and its correlation with disease severity, axonal and demyelinating neuronal injury provides an interesting insight into one such strategy. Further studies are needed to establish the probable role of magnesium supplementation and its benefits in T2DM.

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 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.