bluuebunny/crossref_metadata_2025_split huggingface dataset:
09.36 A tumultuous case of episodic apnoea
Authors: Sun Bo , Mgbachi Victor , Woodhall Mark , Voysey Zanna , Azzopardi Laura , Rajan Prabha , Wroe Stephen , Waters Patrick , Isabel Leite M , Irani Sarosh 
Published: March 2023

Glycine-receptor(GlyR) antibodies are well defined in progressive encephalomyelitis with rigidity and myoclonus (PERM), and are associated with a limited spectrum of immunotherapy-responsive syndromes. Whilst paradigms of autoantibody pathogenicity have been proposed, the trigger and propagation of GlyR antibodies remains unclear. We herein describe and define clinical and immunobiological observations of a GlyR antibody positive patient with PERM with the rare association of an ovarian teratoma.A 36-year-old woman presented with subacute axial and limb rigidity, stimulus-sensitive myoclonus, startle, ataxia, anxiety and episodic apnoea. GlyR antibodies were present in serum and CSF. CT revealed a 53 mm left ovarian teratoma. Despite improvement following immunotherapy, she relapsed with respiratory arrest, therefore removal of the left ovarian teratoma was performed.The fresh teratoma tissue was cultured in B-cell stimulating and plasma cell maintaining conditions, based on similar work with ovarian teratomas from patients with NMDAR-antibody encephalitis (Makuch et al., Annals of Neurology 2018).This teratoma secreted GlyR antibodies into culture supernatants consistent with intra-tumoral synthesis of glycine-receptor antibodies. Whilst marked post-surgical improvement was observed, relapses persisted in correspondence with persistent glycine-receptor antibodies.Our case highlights key areas for clinical consideration; GlyR antibody-mediated disease can be paraneoplastic in nature; ovarian teratomas can produce pathogenic autoantibodies; late tumour removal or immunotherapy worsens prognosis.
10.00 An obvious, deceptive, case of immunosuppression
Authors: Kumar Guru , Bodi Istvan , Flores Lorena 
Published: March 2023

A 69 year old man developed two month progressive short term memory difficulty and then presented with vomiting and confusion. He had bilateral lung transplants for bronchiectasis, immunosuppressed with tacrolimus and mycophenolate for two years. Examination revealed dry thoracic shingles.MRI demonstrated two intra-axial frontal lesions with faint peripheral enhancement, diffusion restriction and vasogenic oedema. Additionally, small foci of diffusion restriction were seen in the upper cervical cord and brainstem. Cerebrospinal fluid showed 340/mm3 lymphocytes, protein 1.2 g/L, normal glucose ratio and positive Varicella zoster virus (VZV) PCR.For possible VZV vasculopathy, he received steroids and acyclovir but unfortunately died of multi organ failure approximately two weeks from admission. Post mortem examination demonstrated necrotic frontal lesions with angiodestructive neoplastic B cell proliferation and EBV positivity. An infarct within the upper cervical cord was also seen with arteritis of one of the posterior spinal arteries. There was widespread perivenular inflammatory cell infiltrate. These findings were consistent with lymphomatoid granulomatosis with vasculitic changes; a rare EBV-driven lymphoproliferative disorder that affects the lungs, skin and central nervous system. Aetiology in this case is felt to be secondary to immunosuppression. However, the role of varicella is unclear and the native lungs have not been examined.
11.30 Comparison of fixed high dose with variable low dose rituximab in neuromyelitis optica spectrum disorders
Authors: Kelly Patricia , Whittam Daniel , Linaker Samantha , Mutch Kerry , Karthikeayan Venkatraman , Huda Saif , Jacob Anu 
Published: March 2023

IntroductionRituximab is an effective treatment for neuromyelitis optica spectrum disorders (NMOSD) but the ideal dosing regimen is unknown. This study compares a standard fixed dosing regimen (2 g 6-monthly) with a lower variable dosing regimen (2 g induction, then 1–2 g on repopulation of CD19+ B-cells to ≥1% of circulating lymphocytes, tested monthly).MethodRetrospective review of all rituximab-treated adult NMOSD patients who had at least 6months relapse-free follow-up from treatment initiation (n=52). Rituximab dosing fell into four groups: Purely fixed dosing (n=13), purely variable dosing (n=18), fixed then variable dosing (n=18), other (n=3).ResultsMedian annualized relapse rate (ARR) was not significantly different between these groups. Pooled analysis of all fixed dosing (n=31, median duration 25 months) versus all variable dosing (n=36, median duration 38 months) showed median and mean ARRs of 0.00 and 0.10 in both groups. Patients on fixed dosing received a median 3.9 infusions/year; those on variable doing received only 1.5 infusions/year.ConclusionVariable dosing of rituximab with B-cell monitoring appears as effective as fixed dosing with lower cumulative drug doses. This approach led to reduced costs, increased patient convenience and has the potential for reducing side effects.
12.18 Neurology led, outpatient plasma exchange: the wessex experience
Authors: Jennings Rachel , Osman Chinar , Hill Katie , Kitley Joanna , Pinto Ashwin 
Published: March 2023

IntroductionPlasma Exchange (PLEX) is a proven treatment for many antibody-mediated neurological diseases, appearing equally efficacious as intravenous immunoglobulins (IVIG) in the majority of conditions. In Wessex, PLEX was previously only available using a membrane-filtration device, requiring central venous access and a high care environment. Increasing restrictions on IVIG alongside bed capacity constraints prompted us to develop a neurology-led, outpatient, centrifuge PLEX service. To our knowledge, this is the first service of its kind in the U.K. We describe our experience over the first eighteen months and compare pre- and post-service development audit data.ResultsPrior to the outpatient service, mean length of stay for elective patients was 10.7 days. The new service has facilitated outpatient PLEX for all elective patients. For inpatient (emergency) PLEX, mean delay from referral to first exchange reduced from 3.7 days to 1.8 days.Overall, 59% of all plasma exchanges were performed via peripheral access with no major complications in this group.ConclusionThe new service has facilitated delivery of outpatient PLEX, reduced demand for neurology inpatient beds and reduced treatment delay. Use of peripheral access has also reduced complication rates. Given the national shortage of IVIG, investment in PLEX is essential for neurology services.
11.48 The misdiagnosis of functional disorders as neurological disease
Authors: Walzl Dennis , Carson Alan , Stone Jon 
Published: March 2023

BackgroundWhen patients with functional neurological disorders are followed up, another neurological disease rarely better explains the initial symptoms in hindsight. No study has examined the reverse, studying patients with various neurological diseases to assess how often a new functional disorder is found which better explains their original symptoms.MethodsWe conducted a prospective multi-centre cohort study of 2637 new neurology outpatient referrals from primary care. Neurologists provided initial diagnoses and a rating of the extent to which their symptoms were explained by an ‘organic’ neurological disease. Patients were followed up 19 months later, via primary care physician questionnaire.ResultsValid responses were obtained for 2378 patients (90% follow up). Ten patients (0.4%) had acquired an unexpected new functional disorder at follow-up which better explained their original symptoms, and 38 patients (1.6%) had acquired an unexpected new ‘organic’ disease.ConclusionPatients diagnosed with neurological disease sometimes have a new functional disorder diagnosis at follow-up which better explains the original symptoms. This occurs at a frequency similar to the misdiagnosis of ‘organic’ neurological disease as functional disorder. Misdiagnosis can harm patients in either direction, which is especially relevant in an era of evidence-based treatment for functional neurological disorders.
001 Risperidone induced seizures after cessation of clozapine
Authors: Kanani Muhammad-Kazim 
Published: March 2023

IntroductionAntipsychotic drugs are known to reduce the seizure threshold. clozapine, a second-generation antipsychotic is most associated with causing convulsions.Case reportA 70-year old gentleman with a diagnosis of Paranoid Schizophrenia had been stable on a daily dose of clozapine 150 mg. The patient wished to stop clozapine for a number of reasons. His clozapine was stopped and he was titrated on to risperidone 3 mg daily. Two weeks after being on risperidone monotherapy the patient attended the emergency department following a fall. Within the department he had two witnessed seizures. Following normal investigations a diagnosis of risperidone induced seizures was made and the medication stopped.DiscussionThe incidence of seizures in non-epileptic patients attributed to the use of risperidone has been reported as 0.3%. The mechanism is unclear but it is interesting to note that a moderate risk of EEG abnormalities has been associated with it. Other risk factors such as old age and hypertension can also influence EEG changes. In contrast seizures with clozapine are dose-dependent (5% at doses above 600 mg/day) and associated with rapid titration. These effects are consistent with the process of kindling.ConclusionA reminder that all antipsychotics can cause seizures. Clozapine is most commonly associated but has specific risk factors. Consideration of patient specific pro-convulsive factors is required before prescribing antipsychotics.
002 Management of idiopathic intracranial hypertension: an audit of the 2018 ABN guidelines
Authors: McWilliam Matthew , Broad Rebecca , Cousins Oliver , Flores Lorena , Harikrishnan Sreedharan 
Published: March 2023

The annual incidence of idiopathic intracranial hypertension (IIH) has increased from 1.0 per 100000 (1990–2001) to 2.4 per 100000 (2002–2014). Strong correlation exists with rising levels of obesity. We conducted an audit within East Kent Hospitals NHS Trust utilising the 2018 ABN guidelines. A retrospective analysis was performed on 33 patients diagnosed with IIH, from September 2017 to September 2018.The results demonstrated that all patients had CSF opening pressure recorded. However, only 42% had MRI brain and 24% had MR-venogram within 24 hours, while just 27% completed all neuroimaging within 48 hours. Formal visual field testing at identification of papilloedema was performed in 27% and ongoing ophthalmology assessment was arranged in 82%. BMI was recorded in only 3% and weight management discussion was recorded in 27%. Headache management was initiated in 91%. Discussion regarding drug side effects (e.g. Acetazolamide and Topiramate) were documented in just 15% and teratogenicity in 3%.These findings demonstrate clear areas for improvement. Working alongside acute physicians and ophthalmologists to formalise neuroimaging pathways and visual field assessments is paramount. Information leaflets including drug side effects and teratogenicity, as well as weight loss advice, should be given at diagnosis. BMI should be recorded at each appointment.
003 Diagnostic workup in suspected viral encephalitis-a single centre audit
Authors: Aslam Faizan , Patel Helee , Garcia-Reitboeck Pablo 
Published: March 2023

The British Infection Society and Association of British Neurologists published joint guidelines in 2012 for the management of encephalitis. We wanted to audit our practice. We analysed data from discharge summaries of 150 patients admitted to St George’s Hospital who underwent a lumbar puncture (LP) between March-December 2017. We identified 30 patients with suspected encephalitis. Time to LP was 30.47 ± 6.98 hours. Opening pressure was documented in 14/30(46.6%) whereas paired serum glucose was sent in 6/30(20%) cases. Neuroimaging was performed prior to lumbar puncture with a mean time of 7.68 ± 3.93 hours in 26/30 (86.6%) cases, 16 (61.5%) of whom had a clear indication with focal neurological signs and/or low Glasgow coma score (GCS) (no documentation of ophthalmoscopy was found). Time to acyclovir administration was 10.43 ± 4.01 hours. Repeat LP after 24 hours was performed in 3/30(10%) cases. Viral PCR was performed in 27/30(90%) cases; 3/30(10%) cases were HSV-1 positive. MRI scan done in 12/30(40%) cases.We recommend a clear protocol for clinicians to improve timeliness and completeness of the workup of suspected viral encephalitis.
004 A triaging blood test for neurology? Serum neurofilament levels in a cohort of GP referrals
Authors: Robertson Josephine , Gray Elizabeth , Thompson Alexander , Feneberg Emily , Talbot Kevin , Turner Martin 
Published: March 2023

Increased serum neurofilament is associated with CNS axonal loss from a range of causes. We assessed its potential as a minimally-invasive indicator of active CNS pathology in those with neurological symptoms.GP referrals to the Neurology Rapid Access Clinic (RAC) at the John Radcliffe Hospital, Oxford were approached to take part. Informed consent was taken under a local Research Ethics Committee-approved protocol. Serum was taken prior to clinical assessment and tested for phosphorylated neurofilament heavy chain (pNFH) using a commercial ELISA (Euroimmun, Germany). Participants were followed up for final diagnosis.The 62 participants had a range of symptoms, with final diagnoses including migraine, functional, neurodegenerative and inflammatory conditions. Receiver Operating Curve analysis defined cut-off levels based on serum pNfH levels in healthy controls and patients with motor neurone disease measured as part of an independent local biomarker study. pNFH levels in the ‘pathological’ range were associated with serious underlying pathology in several RAC referrals. Ongoing analysis of the cohort will be presented.Alongside clinical reasoning, serum pNFH may have significant value for the improved triage of those presenting to primary care with neurological symptoms. Further study in larger populations, including healthy individuals, is now warranted.
005 Unusual cerebellar stroke mimic with ATP1A3 mutation
Authors: Ahmed Fuhad , James MacDougall Niall John 
Published: March 2023

A 44-year-old female with known generalized epilepsy presented having fainted two hours after a mild allergic reaction. Following the syncopal episode she had fixed unilateral cerebellar signs consistent with stroke.Examination revealed left sided cerebellar ataxia, past pointing and dysdiadochokinesis. MRI showed mild cerebellar atrophy with no focal lesions. EMG was unremarkable. CSF was normal.Her daughter (age 7) has symptoms of progressive ataxia, morning tremor, and dysarthria. An ataxia 98 gene panel revealed an autosomal dominant mutation of ATP1A3, with a heterozygous variant for c.2267G>A p. (ARG756His). This pathogenic variant allowed a diagnosis of ATP1A3-related condition for the daughter with subsequent identification of the same variant gene mutation in ATP1A3 in our patient.ATP1A3-related neurologic disorders represent a rare clinical continuum with three distinct phenotypes; rapid-onset dystonia-parkinsonism (RDP); alternating hemiplegia of childhood (ACH); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). Some individuals have intermediate phenotypes or limited features that do not fit a major phenotype.Here the phenotype varies between mother and daughter as our patient has overlapping symptoms of CAPSOS and RDP. The hyperacute onset of a cerebellar syndrome is notable. The diagnosis was only possible with knowledge of her daughters’ condition.
12.15 Distinguishing neurosarcoidosis from multiple sclerosis based on cerebrospinal fluid analysis: a retrospective cohort study
Authors: Arun Tarunya , Pattison Laura , Palace Jacqueline 
Published: March 2023

IntroductionNeurosarcoidosis is a great mimicker and distinction from multiple sclerosis can be troublesome. This study characterises a cohort of neurosarcoidosis patients with focus on CSF analysis and whether this could help distinguish these two conditions.MethodsWe enrolled 80 patients with a diagnosis of neurosarcoidosis based on stringent diagnostic criteria. The CSF and serum oligoclonal IgG patterns after iso-electric focusing were compared.Results80 patients had a probable or definitive diagnosis of neurosarcoidosis. MRI findings were leptomeningeal enhancement (35%) and white matter and spinal cord involvement (30% and 23%). PET was positive in (62%) of isolated neurosarcoidosis. CSF analysis showed that oligoclonal bands were rare (3% had CSF alone,11% with mirror pattern). No patient with definite neurosarcoidosis had CSF oligoclonal bands. Only 14% of patients with definite neurosarcoidosis had elevated serum ACE, CSF ACE was absent in all.DiscussionLarge elevations in CSF protein, WCC and ACE occur in neurosarcoidosis, but are rare in MS. However, minimal changes may occur in both conditions. Intrathecal oligoclonal IgG is a powerful discriminator as it is rare in neurosarcoidosis but common in MS (95–98%). We suggest caution in making a diagnosis of neurosarcoidosis when intrathecal oligoclonal IgG synthesis is found.
006 Quality improvement: management of myotonic dystrophy patients in tertiary care centres
Authors: Odunsi Sola , Roberts Mark , Lilleker James , Bentley Andrew , Felton Tim 
Published: March 2023

BackgroundMyotonic Dystrophy type 1 is an inherited multisystem disorder with a European prevalence of 3–15 per 100,000. Cardiorespiratory complications (e.g. arrythmia, respiratory failure) account for around 70% of early deaths. In many cases this could be prevented though periodic screening and timely intervention, including with pacemakers or non-invasive ventilation, where indicated.Recently, international consensus-based care recommendations have been published with a view to reduce mortality by improving quality and standardising care for patients with Myotonic Dystophy type 1. We hypothesised that nationally, adherence to these recommendations is likely to be poor.MethodsWe audited the care of patients with Myotonic Dystrophy type 1 at the Manchester Centre for Clinical Neuroscience (MCCN) and the University Hospital South Manchester (UHSM) Ventilation Clinic against consensus-based care recommendations. A data collection proforma was created based on the recent care recommendations. Retrospective case note review was performed.Results and conclusionData collection and analysis is ongoing. Full results will be presented at the conference along with a quality improvement action plan. These results will also feed in to a planned redevelopment of tertiary neuromuscular services in the region.
007 Simple steps to prevent CSF sample errors in neurological emergencies
Authors: Jensen Melanie P , Auger Stephen D 
Published: March 2023

ObjectiveTo minimise the rates of avoidable error in the collection, processing and documentation of cerebrospinal fluid (CSF) samples acquired to investigate neurological emergencies.MethodsTo identify common and avoidable sources of error, CSF samples sent for suspected subarachnoid haemorrhage or bacterial meningitis were considered retrospectively. A total of 30 CSF samples were sent between May and September 2018 from the Whipps Cross University Hospital Acute Admissions Unit. Based upon the sources of error identified, a series of interventions were devised to minimise future error. Error rates were reassessed between December 2018 and May 2019 after implementation of each intervention, over 2 ‘PDSA’ cycles.ResultsAvoidable sample processing errors (e.g. under-filled bottles, inadequate requests) were reduced by a simple information sheet introduced to lumbar puncture (LP) packs. Deficiencies in documentation of LP procedures were overcome with the introduction of a structured computer template to be filled out after each procedure. Length of admission reduced from an average of 79 hours (pre-implementation) to 43 hours (after cycle 2).ConclusionsThree straightforward, ‘one-off’ and easily reproducible interventions led to considerably reduced rates of error in the processing and documentation of CSF samples for acute neurological emergencies.
015 Beware the spasm: tonic spasms as the sole presenting feature in neuro-inflammatory disorders
Authors: McWilliam Matthew , Sivagnanasundaram Jananee , Harikrishnan Sreedharan 
Published: March 2023

Painful tonic spasms are brief recurrent episodes of increased muscle tone and abnormal posturing that can affect one or more limbs at a time. They can be extremely debilitating if not identified early.We describe two cases with different underlying disease entities, in which this was the only initial presenting symptom.The first case was a 73-year-old guitarist, whose painful tonic spasms cut short his band’s tour and also caused him to sustain a vertebral fracture. MRI whole spine revealed multiple short segments of T2 high signal. He was diagnosed with an acute myelitis and his spasms responded well to carbamazepine.The second case is a 66-year-old-lady who had months of severe prolonged tonic spasms. Later that year she developed an area postraema syndrome and months later a right optic neuritis. MRIs of the neuroaxis were normal during the initial few years of presentation. A diagnosis of neuromyelitis optica was established once aquaporin-4 antibody was confirmed as positive and her spasms improved spontaneously.These cases highlight the diagnostic challenge posed by an isolated presentation of painful tonic spasms. Early recognition can aid timely treatment initiation and investigation with aquarporin-4 antibody and MR imaging, to establish the underlying cause.
016 Bing-neel syndrome presenting with headache and TIA-like symptoms
Authors: Azzopardi Laura , Banerjee Gargi , Chandratheva Arvind 
Published: March 2023

Migrainous headaches and transient ischaemic attacks are amongst the commonest acute neurological presentations seen in the UK. Our case highlights a rare complication of a rare disorder presenting as a mimic for these common neurological conditions.A 68 year-old woman presented with gradual onset severe frontotemporal headache with vomiting, mild photophobia and transient aphasia. Previously, she had experienced episodes of sudden onset left arm weakness and numbness spreading to the face, associated with complete aphasia, lasting for ten minutes. Examination was unrevealing.Contrast head MRI showed enhancing leptomeningeal disease. An IgM kappa paraprotein was detected in serum, with a lymphoplasmacytic lymphoma diagnosed on bone marrow aspirate/trephine. CSF was highly cellular containing a population of predominantly CD20+ lymphocytes, in keeping with a B-cell lymphoplasmacytic lymphoma infiltrating the leptomeninges. A diagnosis of Waldenstrom’s macroglobulinaemia (WM) presenting with Bing-Neel syndrome was made. She was started on chemoimmunotherapy with MATRix regimen.Bing-Neel syndrome is a rare complication of WM that results from infiltration of the central nervous system, and rarely peripheral nervous system, by malignant lymphoplasmacytic cells. Neurological manifestations are diverse and protean. The diagnosis should be considered with unexplained neurological symptoms in the presence of macroglobulinaemia.