Suresh Kumar Chhetri

Morvan Syndrome A Case Report With Patient Narrative and Video

A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management.

Reversible Cerebral Vasoconstriction Syndrome With Involvement of External Carotid Artery Branches

A 44-year-old woman presented with recurrent episodes of thunderclap headache. Neurological examination and computed tomography brain imaging were unremarkable. Cerebrospinal fluid findings were consistent with subarachnoid hemorrhage. Computed tomography angiography of the circle of Willis showed multiple areas of segmental vasoconstriction. This finding was confirmed on cerebral catheter angiography, with segmental vasoconstriction involving bilateral internal carotid, posterior cerebral, and external carotid branches. No aneurysm or other vascular abnormality was identified. She received treatment with nimodipine. A selective serotonin reuptake inhibitor, started 4 weeks earlier, was discontinued. Follow-up angiography after 3 months demonstrated complete resolution of the segmental vasoconstriction, confirming the diagnosis of reversible cerebral vasoconstriction syndrome (RCVS). She remained headache free at follow-up. To our knowledge, external carotid artery branch involvement in RCVS has been described only in one previous occasion.

An unusual presentation of diabetic amyotrophy: myoclonus

Diabetic amyotrophy is a distinctive form of diabetic neuropathy. It is characterised by a weakness and wasting of proximal muscles of the lower limbs with associated pain. We report a case of an elderly patient with unusual presentation of diabetic amyotrophy. He presented with myoclonic jerks and recurrent falls. Examination findings and electrophysiological studies were consistent with a diagnosis of diabetic amyotrophy. He responded well to steroids with marked improvement in strength of the lower limb muscles and complete resolution of myoclonic jerks. Diabetic amyotrophy presenting as myoclonic jerks has been rarely reported before.

Paroxysmal dysarthria ataxia syndrome responds to lacosamide

256 http://msj.sagepub.com Dear Editors, A previously healthy 20-year-old gentleman, born in the UK of Pakistani parents presented with an 8-week history of stereotyped episodic speech disturbance. Each episode was characterised by severe slurring of speech occurring synchronously with difficulty controlling the right arm and leg. The episodes had initially occurred daily, but over the course of 4 weeks the frequency had increased to several per hour. Between episodes, neurological examination was notable only for mild spasticity in the right arm and leg. During observed episodes, which were of abrupt onset and cessation and lasting for approximately 20 seconds, there was marked dysarthria in combination with right upper limb dysmetria and gait ataxia.

Fulminant acephalgic giant cell arteritis with basal cerebral artery occlusion: A radiological and clinico-pathological study

A 60 year old man with no past history of note presented with a 5-week history of confusion and dysphasia of sudden onset. He denied any headaches or jaw claudication, but did report vague shoulder discomfort, which in retrospect was likely to reflect polymyalgia rheumatica. Clinical examination demonstrated a non-fluent dysphasia, subcortical cognitive impairment, unsteady gait and brisk reflexes. He was in sinus rhythm and had no carotid bruits, cardiac murmurs or stigmata of infective endocarditis. He had no vascular risk factors with the exception of a past history of smoking. Laboratory studies were significant for an erythrocyte sedimentation rate (ESR) of 66mm/hour and C-reactive protein (CRP) of 108mg/L. Brain magnetic resonance imaging (MRI) showed extensive ischaemic lesions involving the frontal and parieto-occipital regions (Figure 1(a)). Cerebrospinal fluid analysis and extensive vasculitis screening were normal or negative. Time of flight MR angiography suggested stenosis of the carotid and vertebral arteries at the point of dural entry into the skull base (Figure 1(b)). Catheter angiography confirmed severe stenosis of the internal carotid and vertebral arteries bilaterally at the point of dural penetration (Figure 1(c–f)). Echocardiogram was normal. Within 24 hours of admission, he developed jaw claudication although still had no headache. Giant cell arteritis (GCA) was suspected and he was pulsed with a 3-day course of intravenous methylprednisolone (1 g/day) followed by oral prednisolone 80mg/day. This led to a dramatic improvement in his jaw claudication and shoulder discomfort. A temporal artery biopsy performed within 1 week of steroid administration was negative. He was readmitted 25 days into the steroid treatment with increasing confusion and dysphasia. CRP was 17.5mg/L and ESR 8mm/hour. Repeat MRI brain showed multiple new internal border zone infarcts in the centrum semi-ovale (Figure 1 (g–i)) and also loss of flow void of the left internal carotid artery (Figure 1 (j)). MR angiogram confirmed new total occlusion of the left internal carotid artery at the skull base (Figure 1 (k, l)). He was treated for a presumptive diagnosis of fulminant GCA with a further 3-day course of intravenous methylprednisolone in addition to pulsed intravenous cyclophosphamide. He became increasingly encephalopathic and quadriplegic. A repeat MRI scan performed 3 weeks into cyclophosphamide treatment showed extensive new areas of cerebral infarctions in both centrum semi-ovale and right parieto-occipital lobes (Figure 2 (a, b)). A non-dominant frontal lobe biopsy showed areas of micro infarction without cerebral vasculitis or lymphoma. His condition deteriorated with new infarctions of the entire right cerebral hemisphere and the left anterior cerebral artery territory (Figure 2 (c, d)). He died 5 months into the illness. Post-mortem findings were consistent with GCA (Figure 2 (e–h)). GCA is a systemic granulomatous vasculitis of elderly individuals affecting large and medium sized vessels. The amount of elastic tissue in the artery dictates the site of GCA involvement, with the superficial temporal, vertebral, ophthalmic and posterior ciliary arteries being frequently involved in active GCA (1). Headache is the predominant symptom in more than two-thirds of patients but 7.5% of patients with biopsy proven ‘silent’ GCA manifest no headache (2). The headache is often non-specific, variable in intensity, character and location (2). Although the patient denied headache throughout the illness, one

PO248 Audit on efficacy of temporal artery biopsy (tab) for giant cell arteritis (gca) in lancashire teaching hospital nhs foundation trust

GCA is the commonest type of systemic vasculitis in patients above the age of 50 years. TAB is the cornerstone of diagnosis. In the right clinical setting, harvesting adequate TAB sample is crucial in making the correct diagnosis and for guiding treatment. Guidelines set by RCP on diagnosis and management of GCA (2010) as standard for this audit. A total of 148 TAB was carried out during that 5 year period. It was positive for arteritis in 37 (25%) cases and equivocal results in 3 (2%) cases. Inadequate sample was obtained in 3 (2%) cases. A repeat biopsy was carried out only in 4 (2.7%) cases, 2 for patients with inadequate samples. The mean sample size was 11.8 (range 6.1–17.5) mm. Minimum sample size was 3 mm (3 cases, 2%) and maximum sample size was 40 mm (1 case, 0.7%). In 43.2% cases the biopsy sample was greater than 10 mm (set minimum by RCP guidelines). This audit results suggest that in 56.1% cases the size of the TAB obtained were less than 10 mm (inadequate with risk of missing skip lesions). A trust policy to obtain at least 20 mm sample was made to improve diagnostic yield.

PO249 Delays in diagnosis of motor neurone disease

Diagnostic delay in patients with motor neurone disease (MND) remains a concern for neurology services in 2017. The average delay between symptom onset and diagnosis by a neurologist is often quoted at 12 months. Factors contributing to this delay are often attributed to the insiduous onset of symptoms and consquent referral by primary care practioners to non-neurological specialities first. We analysed the clinical records of 100 patients referred to our neuroscience centre who were diagnosed with MND between 2013 – 2016. Our analysis showed that the mean time from symptom onset to diagnosis was 15 months. The mean prognosis from diagnosis to death was 9 months. The most common presenting symptoms included limb weakness 58% and bulbar dysfunction 37%. 52% of patients were initially referred to non-neurological specialities, the most common of which included general medicine 12%, ear nose and throat 11% and neurosurgery 7%. Patients referred to non-neurological specialities underwent unecessary procedures most commonly nasoendoscopy and gastroscopy. In 3 cases lumbar spine decompression was performed. We will be presenting our suggestions/amendments to current GP referral guidelines following statistical analysis of our data collected in the hope that patients with suspected MND are appropriately referred to neurological services.

PO024 Quality improvement in neurology – introduction of a lumbar puncture pack in the medical assessment unit

Accurate collection of cerebrospinal fluid (CSF) is cruical when investigating a patient with suspected neurological disease. We implemented a lumbar puncture (LP) pack following auditing the performance of clinicans undertaking LP on acute medical patients on the MAU. Our intial retrospective audit of 47 patients between May-July 2015 found significant omissions in CSF analysis. Specifically there was poor performance in measurement of opening CSF pressure and paired CSF/serum glucose. We interviewed core medical trainee doctors in the trust on their experiences of undertaking LPs. Key themes included difficulty in obtaining correct equipment in a timely manner; in particular spinal manometers. In April 2016 we implemented a centralised LP pack on the medical assessment unit (MAU) including all the necessary equipment required to undertake accurate LP. Following this intervention we re-audited the case notes of 41 patients who had undergone LP on the MAU. The most signicant area of improvement was an 18% increase in the measurement of CSF opening pressure. We did not see any improvement in collection of paired CSF/serum glucose. At the time of writing the LP pack remains a key piece of equipment on the MAU and we will be re-auditing performance in Feburary 2017.

A FATAL CASE OF ‘PRIMARY’ HEADACHE

We describe a case of a 33 year old caucasian male with a subacute history of headaches presenting to the medical team with pyrexia, confusion and hallucinations. He subsequently became disorientated, agitated and initially needed sedation and ventilation after becoming acutely hypoxic with autonomic instability. He was subsequently found to have dense, pre–geniculate blindness and generalised arreflexia. Magnetic resonance imaging demonstrated normal brain parenchyma but diffuse nodular thickening and enhancement of the basal leptomeninges in the brain and throughout the entire spinal cord. Lumbar puncture revealed markedly xanthochromic CSF with opening pressures that were persistently raised above 40 cm CSF. CSF protein was elevated at 8–9 g/l; the CSF white cell count was never significantly elevated. Repeated cytological analysis of the spinal fluid failed to reveal any evidence of malignant cells. The patient was aggressively treated with anti–tuberculous chemotherapy and high dose dexamethasone as well as broad–spectrum antibiotics and a course of aciclovir. There was an encouraging, but transient, clinical improvement with a corresponding improvement in CSF protein, but thereafter the patient continued to deteriorate. A lumbar drain was inserted in order to control his elevated CSF pressure. Subsequent microbiological testing for HIV, syphilis, cryptococcal antigen, bacterial culture and viral PCR was negative; repeated TB cultures of CSF and sputum, CSF TB PCR and Quantiferon test were negative. An initial brain biopsy of non–dominant frontal lobe, which included the meninges, failed to identify any significant pathology. A second biopsy of the leptomeninges taken from the high cervical cord revealed the presence of a high grade astrocytoma and confirmed the final diagnosis of primary diffuse leptomeningeal gliomatosis (PDLG). The patient was not fit for any oncological intervention and died within 3 weeks of diagnosis. Leptomeningeal metastases from gliomatous brain tumours are seen occasionally and are well recognised but primary diffuse leptomeningeal gliomatosis is a very rare presentation of disseminated glial malignancy. Such cases are often treated initially as tuberculous meningitis. Our case highlights the difficulty in diagnosing this rare condition which should be remembered as an important differential in cases of basal leptomeningitis, particularly in those not responding to antimicrobial treatment.

AN UNUSUAL CASE OF PROGRESSIVE CEREBELLAR ATAXIA

Introduction Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder due to mutations in the senataxin gene resulting in progressive cerebellar ataxia, peripheral neuropathy and occasional oculomotor apraxia.1 Approximately 96% of the patents have raised serum alpha fetoprotein (AFP) levels.1 We present a patient presenting with ataxia and choreoathetosis, secondary to AOA2, whose serum AFP level was at the upper limit of normal range. Case presentation A 17 year old college student, born of non–consanguineous parents, presented with a 5 year history of gradual onset, progressive impairment of co–ordination. He also reported gradual decline in his academic performance. There was no history of seizures, visual, bulbar or sphincter disturbances. He was a non–smoker and had no history of alcohol or drug abuse. Past medical and family history was unremarkable. Clinical examination demonstrated mild bradyphrenia and a subtle ataxic dysarthria. Cranial nerves were normal. Limb tone and power were unremarkable. Reflexes were normal in the upper limbs but knee jerks were reduced and ankle jerks were absent bilaterally. Plantars were downgoing. There was mild blunting of pinprick distally over the legs. His gait was mildly ataxic, more pronounced with tandem walking. Choreoathetoid movements were noted in his hands. The following investigations were either normal or negative: haematological, biochemical and copper studies, lipid profile, serum electrophoresis, creatine kinase, autoimmune screen, white cell enzymes, mitochondrial studies, vitamin E levels, acanthocytes, ataxia telangiectasia (A–T) and spino–cerebellar ataxia mutations. Genetic study for Friedreichs ataxia was negative. AFP level was 10 (normal range <10 kU/l). Electroneuromyography showed evidence of generalised axonal motor and sensory neuropathy. Magnetic resonance imaging of the brain revealed mild cerebellar atrophy. Further review at 6 months demonstrated evidence of mild oculomotor apraxia. Molecular genetic testing revealed compound heterozygous mutations in the senataxin (SETX) gene, resulting in loss of senataxin protein, confirming the diagnosis of AOA2. Conclusion Oculomotor apraxia, although included in the acronym, is not obligatory for diagnosis of AOA2. A range of movement disorders including tremor, chorea and dystonia may be present in approximately 14% of the patients.1 AFP level may occasionally be in the upper range of normal and may increase with time. AFP is an important biomarker for recessive ataxias and should be included in the investigation of recessive cerebellar ataxias or adolescent movement disorders of unknown aetiology.