bluuebunny/crossref_metadata_2025_split huggingface dataset:
082  A rare mimic of inflammatory myopathy
Authors: Purcaru Elena , Carroll Liam , Furby Julian 
Published: May 2022

A 37 year-old female presented with 5-weeks of neck pain, proximal weakness and dysphonia. Exami- nation showed facial rash, proximal weakness, areflexia and distal sensory loss. She had a 6-year history of sensory neuropathy, treated functional B12 deficiency and fibromyalgia. Serum showed elevated CK (360U/L) and borderline positive Anti-Ro52. Electrophysiology showed worsening sensory neuropathy and new myopathic features. She deteriorated soon after receiving intravenous corticosteroids and immu- noglobulins. CK increased to 1796 U/L and she developed bulbar failure requiring respiratory support.Muscle biopsy electron microscopy showed lipid accumulation suggesting a metabolic disorder. Serum acylcarnitines and urinary organic acids were abnormal, consistent with Riboflavin Transporter Deficiency (RTD). Riboflavin 500mg three times daily was initiated, urinary organic acids normalised and the patient regained full-power with neurorehabilitation.RTD is a rare cause of peripheral and cranial neuropathy, with autosomal recessive inheritance due to variants in riboflavin transporter genes and onset up to young adulthood. Mutation carrier frequencies should generate 70 new cases per year worldwide, though only ~80 case-reports exist in the literature suggesting under-recognition. Riboflavin is a precursor for coenzymes important for carbohydrate, amino acid and lipid metabolism. Untreated, the disorder is fatal, though the majority of patients improve with Riboflavin supplementation.elena.purcaru@gmail.com
083  An audit of myasthenia gravis patients at a tertiary neurosciences centre
Authors: Vidot Micha , Crawshaw Ania , Nitkunan Arani 
Published: May 2022

IntroductionThis is the first known audit of Myasthenia Gravis (MG) conducted against the ABN 2015 guidelines. St. George’s Hospital is a tertiary neurosciences centre serving approximately 3 million.MethodsAll patients admitted with a diagnostic code of MG in 2018 were identified (n=59). Data relevant to ABN guidelines were collected from patient records.ResultsAverage time since diagnosis was 7 years (range 0–49). 56% had generalised myasthenia, 25% ocular myasthenia (OMG) and 19% were unspecified. Regarding investigations documented: neurophysi- ology 40%; serotype 58%; thymus imaging 54%; MRI brain 9/14 OMG. Regarding treatment: prednisolone in 61% (6/36 were on a higher than guideline recommended dose to control symptoms); bone protection in 24/36; immunosuppressant in 54%. Immunosuppression was indicated in 2/17 patients who were not on a steroid-sparing agent. Myasthenia was the primary reason for admission in 27/59. 55% of these inpatients had vital capacity monitoring documented. 81% had speech and language therapy.ConclusionThe ABN guidelines are relatively new considering disease duration in this cohort. A signifi- cant limitation is the assumption that if something was not documented in the electronic records, it was not done. A regional MDT has been created this year and re-audit is planned to determine its impact.m1701119@sgul.ac.uk
087  Audit of thymectomy for thymoma associated and non-thymoma associated myasthenia gravis at Southampton General Hospital
Authors: Allen Claire , Badran Abdul , Pinto Ashwin , Burke Georgina , Woo Edwin 
Published: May 2022

IntroductionIn 2016, a pivotal multi-centre RCT demonstrated that thymectomy for non-thymoma asso- ciated myasthenia gravis (MG) improved clinical outcome and reduced long-term immunosuppression. We sought to review how practice has changed in Wessex following the trial.MethodPatients over the age of 18 who underwent thymectomy for both thymoma and non-thymoma associated MG between 01/08/2013 and 01/08/2019 were identified using coding. Data was collected retrospectively from healthcare records.ResultsThe number of thymectomies performed increased from 6 to 24, representing an eight-fold increase for patients with non-thymoma associated MG and three-fold increase for patients with thymoma. Time from diagnosis to surgery for patients without thymoma reduced from 8.8 years to 2.3 years. Overall 15/24 cases were performed by VATS, 12% more than previously. There was a small increase in surgical morbidity. However, 50% of patients were on reduced doses of immunosuppression by six months after surgery without deterioration in myasthenia.ConclusionFollowing the landmark publication in 2016, there has been a significant increase in the number of thymectomies performed in Wessex. Time to surgery has fallen, but associated surgical morbidity has increased. These observations have supported the development of a MDT in Wessex to streamline patient care and improve outcomes.c-allen@doctors.org.uk
088  The clue is in the neck
Authors: Cleaver Jonathan , Morgan Elsa , Lyons Paul , Chohan Gurjit 
Published: May 2022

Miller-Fisher Syndrome is characterised by ataxia, ophthalmoplegia and areflexia. Approximately 72% are preceded by infection, of which, Campylobacter jejuni and Haemophilus influenzae are frequently reported aetiological agents.We report a 22-year-old lady admitted with ataxia and worsening diplopia. On examination, she had bilateral abducens nerve palsies, left-sided facial weakness and widespread areflexia. Palpable lym- phadenopathy was present bilaterally.MRI showed mild inflammatory sinus disease and marked cervical lymphadenopathy. CSF revealed albuminocytologic dissociation and monospot was positive for Epstein-Barr virus. Subsequent abdominal sonography detected splenomegaly and counselling on avoiding contact sports was provided.A diagnosis of MFS was made based on the history, clinical features and supportive investigations. Anti-GQ1b antibodies were negative.MFS is typically associated with anti-GQ1b antibodies although a significant percentage (>10%) are seronegative. Recent studies have suggested anti-GAD may be associated with a broader clinical spectrum of presentations.The patient received 5 days of intravenous immunoglobulin and several weeks later she had complete symptomatic resolution.MFS is a self-limiting, though temporarily debilitating condition, and EBV should be remembered as a causative agent; particularly in susceptible demographic groups.Radiographic and viral clues, including examination of the neck, may facilitate accurate diagnosis.jkcleaver88@gmail.com
092  War, arsenic and A(wo)MAN
Authors: Kozul Tara Klemencic , Osman Chinar 
Published: May 2022

Acute motor axonal neuropathy (AMAN) is a subtype of Guillain-Barré syndrome (GBS) with predominant motor axonal changes and no sensory signs or symptoms. Recovery can vary from complete to incom- plete with residual disability1. Arsenic is a heavy metal which is poisonous at low concentrations. Acutely, it causes vomiting, colicky abdominal pain and profuse watery diarrhoea. Its poisonous effects on the nervous system include a peripheral neuropathy mimicking GBS. Arsenic is a popular choice as an incon- spicuous murder weapon. It can resemble white sugar in appearance and be tasteless and odourless2. Other uses include pest control in agriculture and as a cotton desiccant. Certain forms of arsenic have been used in chemical warfare. We present a case of a 39 year-old female refugee with a 20 year history of bilateral upper and lower limb distal weakness. Aged 17, she developed profuse vomiting followed by an acute paralytic illness whilst living on a cotton farm in Kurdistan, Iraq. Neurophysiology demonstrated a severe motor axonal neuropathy with chronic partial denervation on EMG. We believe her symptoms may be related to arsenic poisoning, used during the Iraqi-Kurdish civil war3. This case highlights the impor- tance of considering geopolitical factors to aid diagnosis in neurological presentations.tara.kozul@uhs.nhs.uk
098  Guillain Barré syndrome (GBS) – like presentation as a first clinical manifestation of non-Hodgkin’s lymphoma
Authors: Siddiqui Sarah , Poole Olivia , Midgley Laura , Vijayan Ashwathy , Bland Jeremy , Harikrishnan Sreedharan , Alkufri Fadi , Redmond Ian , Moran Nicholas 
Published: May 2022

A variety of peripheral nerve disorders can be seen in association with lymphomas. We present a case of a 68-year-old female who presented with ten days history of rapid onset ascending paresthesias followed by unsteadiness. Neurological examination was remarkable for truncal ataxia with wide-based gait, large fiber sensory impairment (proprioception/vibration). There was some evidence of autonomic instability given labile blood pressure and tachycardia. MRI head and spine were unremarkable, as was the CSF. She was initially treated as acute ataxic variant of GBS with IVIG; however, there was continued clinical deterioration. Electrophysiology three weeks after symptom onset showed minimally delayed F waves, with normal sensory and motor NCS. Nerve Ultrasound revealed pronounced enlargement of C6 nerve root which was confirmed later with MRI of brachial plexus showing thickening and some enhancement of roots and trunks. Subsequent CT CAP and PET scan showed mediastinal, hilar and supraclavicular lymphadenopathy, though no PET uptake in the region of dorsal root ganglion. Biopsy of the right supra- clavicular node was consistent with an anaplastic large cell lymphoma.Atypical presentations of acute neuropathy can be attributed to GBS; however, they should include evalu- ation of a paraneoplastic process which can have similar acute presentations. This case also demonstrates the importance of nerve ultrasound which can be significantly abnormal in sensory neuronopathy with relatively normal electrophysiological testing.s_hasan_s@yahoo.com
100  All that glitters is not GARS
Authors: Doherty Carolynne M , Pipis Menelaos , Skorupinska Mariola , Manzur Adnan , Muntoni Francesco , Shah Sachit , Morrow Jasper , Rossor Alexander M , Reilly Mary M 
Published: May 2022

BackgroundA 22-year-old woman was initially assessed in the context of a family history of distal wasting and weakness, typically with upper limb onset, then lower limb involvement. When assessed as a child her phenotype was recognised to be atypical compared to her sister, but she was thought to be affected. Ultimately the family was diagnosed with distal hereditary motor neuropathy due to a GARS mutation. However, this patient did not carry the mutation, prompting further evaluation.CaseAt age 11 the left foot was smaller with some toe clawing and cavus deformity. Left sided wasting of tibialis anterior and the posterior compartment was seen, ankle dorsiflexors were grade 3.ResultsNerve conduction studies and EMG were normal in the right leg and arms. Chronic denervation was identified in L4, L5 and S1. MRI of lumbar spine was normal. However, 2 areas of marked thickening and enhancement were seen in the left sciatic nerve in the upper thigh and a further lesion in the mid- thigh. Fascicular preservation of the nerve was felt to be strongly suggestive of a perineurioma.DiscussionThis case highlights the importance of careful phenotyping when validating novel variants in potentially causative genes.c.doherty@ucl.ac.uk
101  Neuromuscular MRI in assessment of variants of unknown significance in inherited neuropathy and associated disorders
Authors: Doherty Carolynne M , Pipis Menelaos , Skorupinska Mariola , Shah Sachit , Morrow Jasper , Rossor Alexander M , Reilly Mary M 
Published: May 2022

BackgroundA problem frequently faced by neurologists is the interpretation of genetic variants of unknown significance(VUS). Unlike in many muscle diseases, specific patterns of muscle involvement are not typically demonstrated on muscle MRI of inherited neuropathy patients. Imaging muscle involvement can be of assistance when assessing VUS.Case ExamplesTwo unrelated individuals with axonal CMT were identified to have a novel p.Lys554Glu DNM2 mutation. Neuromuscular MRI was consistent with the clinical findings and similar to literature descriptions, supporting the pathogenicity of this variant.Spinal Muscular Atrophy Lower Extremity Dominant (SMA-LED) due to DYNC1H1 mutations can be associ- ated with sparing and relative hypertrophy of the adductor longus and semitendinosus muscles at the thigh level, with diffuse involvement at the calf level, sparing the anterior-medial muscles1 on MRI. These features were demonstrated in the imaging of a proband with SMA-LED has two mutations in DYNC1H1, one of which is novel. The novel p.His75Pro mutation was also found in his mother who has normal clinical examination and neuromuscular MRI, suggesting that the previously described p.Arg251His mutation2 was the cause of the neuromuscular phenotype in the proband.DiscussionMRI has a role supporting the diagnosis of inherited neuropathies, and in evaluating VUS.Scoto et al. Novel mutations expand the clinical spectrum of DYNC1H1-associated SMA. Neurology.2015Feb17;84:668–679Antoniadi et al. Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides high diagnostic yield.BMCMedGenet.2015Sep21;16:84.c.doherty@ucl.ac.uk
103  High rates of venous and arterial thrombotic events in POEMS patients
Authors: Keddie Stephen , Sayar Zara , Weatherill Anna , Sive Jonathan , Thomas Mari , D’Sa Shirley , Lunn Michael 
Published: May 2022

BackgroundArterial and venous thrombotic events occur in patients with POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, M-protein, Skin changes) syndrome with a previously reported rate of 20%. We reviewed the UK POEMS Registry to describe the rate of venous thromboembolism (VTE), arterial events and risk factors.MethodsThe UK POEMS Registry is the largest single-centre cohort in Europe and comprises 100 patients. Data were collected on arterial and venous thrombotic events from 1999 to present day.ResultsOf the 83 assessable patients, median age at presentation was 52 years. Twenty-five patients expe- rienced 35 clinically apparent arterial or venous events. Eleven patients had 14 VTEs including deep vein thrombosis (DVT, 4/14), pulmonary embolism (4/14) and peripherally inserted central catheter-associated DVT occurring during autologous stem cell transplant (4/14). Sixteen patients experienced 21 arterial events: stroke (7/21), peripheral arterial occlusion (6/21), myocardial infarction (4/21) and microvascular disease (2/21), with no discernible relationship with thrombocytosis or polycythaemia. The combined venous and arterial event rate was 42%, over double that previously reported. There were more arterial than venous events, and most occurred during active pre-treated disease indicating a need for a pre- emptive approach to thromboprophylaxis.ConclusionArterial and venous thromboses are more common in POEMS syndrome than previously reported and appear associated with disease pathology and activity. We propose a management strategy for appropriate thromboprophylaxis in POEMS patients throughout the course of disease.stephen.keddie@nhs.net
109  The ABN Acute Neurology Boot Camp: Pre- and post-course feedback for the inaugural event
Authors: Rees Richard N , Shribman Sam , Jones Matt , Warner Thomas T , Sussman Jon 
Published: May 2022

IntroductionThe transition from medical SHO to neurology registrar is a period fraught with anxiety and stress. Returning from parental leave or out-of-programme experiences can engender similar feelings in more experienced neurology trainees. We sought to support junior and senior neurology trainees through this period by organising the inaugural ABN Acute Neurology Boot Camp.MethodsThe ABN delivered a one-day course covering a range of acute neurology topics. Sessions were delivered by a gender-balanced panel of early-stage consultants who had been recommended by current trainees for their teaching style and enthusiasm. Participants completed a pre- and post-course survey. The primary outcome measure was the self-rated level of confidence in being the neurology registrar on-call using a 10-point Likert scale.Results73 trainees attended from across the UK. The median pre-course confidence level was 4 (IQR 3), which improved to median 6 (IQR 2) (p<0.0001). Both junior (FY1-CT2) and senior trainees (ST3+) reported improvement as a result of the course. Confidence in managing acute presentations in each of the topic areas improved significantly.DiscussionTrainees benefit significantly from being supported through these points of transition. The Acute Neurology Boot Camp is a useful and effective method of providing education and support.richard.n.rees@ucl.ac.uk
110  Methylmalonic acid testing in neurological patients
Authors: Yoganathan Katie , Ayling Ruth , Turner Ben , Dobson Ruth 
Published: May 2022

Vitamin B12 deficiency can lead to neurological abnormalities including paraesthesia, ataxia and subacute combined degeneration of the cord (SACD). Nitrous oxide abuse leads to SACD via func- tional B12 deficiency. Methylmalonic acid (MMA) testing is increasingly available, but it remains unclear where MMA levels are clinically useful.We performed a quality improvement project examining Vitamin B12 and MMA levels in a cohort of neu- rological patients. All patients known to neurology who underwent same-day testing of B12 and MMA levels (2016–2019) were included.60 individual patient records were evaluated. 17 individuals (28%) had high MMA, of whom 6 individuals had SACD and 11 had peripheral neuropathy. These patients had B12 levels between 91–371ng/L (lower limit of normal (LLN) is 197ng/L). Of these, only one had severe B12 deficiency, 4 had moderate deficiency (150–197ng/L) and 12 (71%) had normal B12. The highest B12 level associated with raised MMA was 372ng/L. All individuals with B12 >372ng/L and neurological symptoms had normal MMA.In individuals with serum vitamin B12 above the lower 1/3 of the reference range and neurological symptoms/signs, MMA does not add to the clinical picture. Furthermore, MMA testing does not change management in patients with B12 levels below the LLN, all of whom should be treated for B12 deficiency. We suggest testing MMA in those with Vitamin B12 levels in the lower 1/3 of the reference range.katieyoganathan@gmail.com
112  Cerebral venous sinus thrombosis: a large retrospective audit from a regional neurosciences centre
Authors: Batcheller Lisa , Appleton Jason P , Hayton Tom 
Published: May 2022

IntroductionCerebral venous sinus thrombosis (CVST) can be a challenging condition to diagnose and treat. We previously performed an audit of CVST patients (2010–2014) and sought to re-audit for changes in practice.MethodsWe performed a retrospective audit of CVST patients admitted to Queen Elizabeth Hospital Birmingham, auditing against international guidelines. Comparisons with 2010–2014 data used Fisher’s exact test.ResultsBetween June 2015 and June 2019, 88 patients with CVST were included. Median age 44 years (range 16–87), 56% female. 56 (64%) patients underwent CT venography (CTV) and 16 (18%) MR venog- raphy (MRV); a greater proportion underwent venography than in 2010–2014 (31/51, 61%, p<0.001). Low molecular weight heparin was the commonest initial anticoagulant: 2010–2014 68% vs. 2015–2019 73% (p=0.70). There was a tendency towards less IV heparin over time: 18% vs. 7% (p=0.09). Although warfarin was the most common long-term anticoagulant in both audit periods (69% vs. 43%), direct oral antico- agulants (DOACs) were used in 12 (14%) patients in 2015–2019. 53% had thrombophilia screening despite this not being routinely recommended.ConclusionsIn 2015–2019, a greater proportion of patients with CVST were diagnosed using CTV/MRV and received less IV heparin. DOAC usage is increasing in CVST. Thrombophilia screening remains controversial.lisabatch1@gmail.com
113  Developing the neurology referral process at a district general hospital
Authors: Kent Loredana , Wei Diana , Warner Graham 
Published: May 2022

IntroductionDespite neurological presentations accounting for around 15% of all hospital admissions, data on inpatient referrals to neurology is limited. 1,2 Early intervention from a neurologist can improve clinical outcomes and reduce readmissions.3 Therefore, it is important that referral processes are reviewed and developed to improve clinical effectivenessMethodsThe study aimed to identify reasons for referral to neurology in addition to outcomes of the referral. 50 consecutive referral forms from February 1st 2019 were reviewed to collect data.ResultsMost common reason for referral was for advice on management of a long-term neurological condition (n=15, 30%), followed by new onset seizures (n=11, 22%) and focal neurological deficits (n=11, 22%). Referrals commonly resulted in further imaging (n=17, 34%) and investigations (n=17, 34%), followed by medication advice (n=16, 32%).DiscussionNeurology services are used for both input on acute management of a new neurological presentation and advice on management on chronic neurological conditions. Seizure management is common in both categories. Referrals commonly result in requests for further investigations, however, it is perhaps less commonly documented when further tests are advised against.Overall, the neurology referral form could be adapted to reflect the above conclusions, to increase efficiency of the service.Loredana.kent@nhs.net
114  Neuro-critical care: a 4-year experience
Authors: Brown Rachel , Spillane Jennifer , Howard Leo , Radcliffe Jeremy , Kullmann Dimitri , Howard Robin 
Published: May 2022

There is an increasing demand for specialist intensive care driven by the complexities associated with prolonged admission for patients with primary neurological disorders. Provision in the UK remains inad- equate and it is essential to establish clear guidelines for appropriate referral.We describe 354 patients admitted to the Neurological Critical Care Unit (NCCU) at Queen Square over 4 years (2016–2019) and reflect on changes in the pattern of care. 95 patients were admitted with neu- romuscular disorders, 79 vascular, 68 autoimmune, 27 primary CNS infection, 20 prolonged or refractory epilepsy. We note a relative increase in the numbers of patients and duration of admission for those with autoimmune disorders, refractory status epilepticus and vascular disease.Indications for admission continue to include the multidisciplinary management of coma, profound weakness, bulbar, ventilatory and autonomic failure, status epilepticus and systemic complications of neurological disorders. Recent trends in admissions and duration of stay reflect the role of neurological intensive care in supporting patients requiring immunomodulatory treatments, specialist epilepsy man- agement and radiological or surgical intervention for vascular disease.Limited provision of neurological ICU raises issues concerning appropriate allocation of resources between the care of common acute neurological disorders and specialist tertiary referral requiring prolonged admission.robinhoward@nhs.net