Ann Johnston

Sudden unexpected death in epilepsy

Mortality in people with epilepsy is two- to three-times that of the general population. This can be attributed to epilepsy itself (epilepsy-related death) or to the underlying cause of the epilepsy. Sudden unexpected death in epilepsy (SUDEP) is the commonest cause of epilepsy-related death. It is a syndrome where a person with epilepsy dies suddenly and no other cause of death is found. There are frequent reports of persons dying alone in their sleep. It is assumed that death occurs following a seizure but since the deaths are often unwitnessed this is only an assumption. The most important risk factor appears to be poor seizure control. Lately, SUDEP has received much public interest, has been the subject of international forums, ethical debates and comprises part of national guidelines on epilepsy management. Despite its high profile, the evidence for specific risk factors and pathophysiology is still not established. Poor incident case reporting, inaccurate death certification and fewer post-mortem examinations have limited the value of epidemiological data on SUDEP. Here, we review the characteristics of SUDEP, its likely risk factors, mechanisms and differential diagnosis, and consider possible strategies for prevention. We also explore the discussion of SUDEP with patients and the management of relatives of SUDEP patients.

KwaZulu-Natal, South Africa

The people of KwaZulu-Natal were flung into the spotlight during the presidential election in 2008–2009 because they represented a crucial vote to the now newly elected South African president and leader of the African National Congress (ANC) Party, Jacob Zuma. A zuluman himself, who grew up working the land of KwaZulu-Natal and herding goats, he had led an election campaign which focused on his peoples daily plights and struggles for food, health and employment. My experiences and conversations with the local Zulu people over this election period seem far removed from the South Africa seen on the world stage which boasts a land rich in diamonds, advertises luxury holiday destinations to the Western Cap and garden route, is home to the sporting prowess of a rugby world cup winning side, was host to the eagerly anticipated British Lions tour and is the forthcoming host to the FIFA Football World Cup in 2010.nnnnMbazwana epilepsy and medical clinic, KwaZulu-Natal.nnnnThe overall lack of infrastructure outside the main cities and the seemingly untameable HIV epidemic, illustrate the enormity of the task in hand …

Cost-effectiveness of pregabalin: a UK perspective

The management of epilepsy and neuropathic pain poses a substantial burden on individuals and society with significant healthcare resource implications. Pregabalin has been approved for add-on treatment of adults with partial seizures with or without secondary generalization and for central and peripheral neuropathic pain syndromes. New antiepileptic drugs, such as pregabalin, have higher acquisition costs than established ‘off-patent’ drugs, but boast advantages in terms of efficacy, tolerability and side-effect profiles. There is, however, scant health economic research concerning the use of any current antiepileptic drugs used to treat epilepsy and neuropathic pain. This article reviews the available data on pregabalin. There are currently insufficient data to draw conclusions on cost–effectiveness regarding its use in epilepsy, neuropathic pain or other nonepileptic conditions. Long-term retention studies and prescribing practices may give an indication as to the effectiveness and tolerability of pregabalin and consequent cost–effectiveness analyses may then prove useful.

Rarities in neurology: blue rubber bleb naevus syndrome

A 62-year-old woman presented with stabbing pain over her left temple radiating to her left cheek when bending forwards or coughing. Neurological examination was normal. There were many cutaneous venous prominences over her body. CT and MR brain scans showed multiple venous anomalies and venous occlusive disease of the left sylvian fissure and superior sagittal sinus. We excluded arteriovenous malformation and dural fistulae with cerebral angiography. Following a clinical genetics assessment, we diagnosed blue rubber bleb naevus syndrome (BRBNS) and gave amitriptyline for her pain. There are only 200 cases of BRBNS in the literature, and central nervous system involvement is rarer still. The syndrome involves multiple cutaneous and visceral venous malformations. Most appear to be sporadic though a few have autosomal dominant inheritance. Although rare, BRBNS represents an important differential diagnosis for patients presenting with multiple and/or multisystem vascular malformations.

Epilepsy in the older patient

The world population is aging rapidly. The post World War II ‘baby boomers’ have benefited from improved medical science, sanitation, political freedom, and social and economic development, resulting in the knock-on demographic trend of an aging population. From a health-economic perspective, this places increasing demands on society and on health services to meet evolving medical and social needs. By 2025, over 30% of the populations of developed countries will be aged over 60 years (US Bureau of Census 2004).

A TREATABLE BUT ‘MISSABLE’ MYELOPATHY

We report two cases of spinal dural AV fistula (dAVF); a potentially reversible myelopathy causing disability which is easily missed in non-specialist hands, due to its insidious onset, commoner differential diagnoses and subtle imaging findings. Case 1: A 69-year-old woman described four years of progressive leg weakness, constipation and urinary incontinence. Examination showed proximal muscle wasting, weakness, absent knee reflexes and diminished proprioception. MRI demonstrated an expanded cord with high signal from T6 to the conus with abnormal flow voids within the theca. Case 2: A 54-year-old man presented with a 12-month history of leg sensory symptoms, worsening mobility and erectile dysfunction. Examination showed bilateral pyramidal weakness. MRI spine showed cord expansion between T9 and T12/L1 with dural vessels. Neuroradiological review suggested both cases were consistent with dAVF, later confirmed on angiography. Both were treated surgically with a combination of clipping, excision, laminectomy and laminoplasty. Both patients have improved motor function following surgery and rehabilitation however sphincter function remains problematic. A timely diagnosis is essential as early surgical intervention optimises prognosis. In light of these cases we propose a dAVF clinical checklist to assist the clinician in their diagnostic questioning of: age, progressive predominantly motor disability and sphincter involvement.

EPILEPSY IN THE ELDERLY: GETTING TO THE HEART OF THE MATTER, A CASE REPORT

A 77-year old man presented following two episodes of altered awareness, with facial and hand automatisms. He had been seizure-free for 23 years, taking phenytoin following excision of a meningioma. A diagnosis of symptomatic temporal lobe focal seizures was made and phenytoin substituted with carbamazepine. A 12-lead electrocardiogram (ECG) revealed prolonged PR interval of 288 milliseconds. MR imaging revealed a residual right temporal lobe cystic lesion with focal enhancement. Following discussion at the epilepsy-cardiology multidisciplinary meeting (MDT) and anticipating a neurosurgical/anaesthetic work-up, a 24-hour ECG was performed, which demonstrated high grade atrioventricular block with 6.5 seconds of ventricular standstill. He was admitted as an emergency, during which he collapsed with further ventricular standstill. He underwent pacemaker insertion, remaining seizure-free. This case illustrates the challenges of epilepsy consultations and management in the elderly with dual pathology. The urgency here was not the potential re-occurrence of the brain lesion, but the conduction abnormality which unmasked serious cardiac pathology. Careful evaluation of the ECG is vital in all patients presenting with episodes of altered consciousness however the pursuit of a recognised benign cardiac conduction abnormality may in the elderly just prove life-saving. The value of a dedicated epilepsy-cardiology MDT therefore cannot be underestimated.

Training under the wing of many masters

As I considered training, the path taken to becoming a consultant, I pondered ‘what do consultant neurologists actually do?’: they practice neurology and in essence they master an art. Some time ago, I wandered around an exhibition of JMW Turner,1 one of the masters of the UKs art scene, who did not achieve greatness overnight, although he was blessed with a natural ability. Hailing from Margate he initially learnt his trade under draftsmen and architects before winning a scholarship to the Royal School of Art. He journeyed the length and breadth of Britain gaining subject and inspiration from contrasting landscapes and people, before travelling across Europe where he spent time at the Louvre with other impressionists of his era. Over the years, he mastered the art of technical and well-crafted line drawings of buildings and towns based on his early architectural mentors, but then progressed onto landscape watercolours and more impressionistic works.nnIt was and is clear to me that Turner although had a natural ability, learnt his trade through dedication and hard graft, mastered his art by working under the wing of many masters, was mentored and inspired, travelled, made friends along the way, learnt new trades and made them his own. So, is mastering the art of neurology really that different?nnWhen I began registrar training, advice came thick and fast. I was strongly encouraged to ‘relocate, to move, to work under many masters’, and now I see the real value, not that one deanery or region is superior, actually far from it, rather the training experience and the trainee is enriched and undoubtedly gains a greater knowledge base, skill and professionalism, …

Neurologists ‘suited and booted’ and not a desk in sight

I agree that when neurologists sit at a desk they do more than simply sit behind a desk.1 However, newly appointed neurologists may ask, ‘What is a desk?’ The era of comfortable, ordered and controlled neurology where patients attend the relative calm of the outpatient clinic is passing as neurology moves closer to the front line.nnContrary to comfortable neurology— seated at desk with coffee and biscuit to hand—modern neurology is delivered by neurologists who are ‘suited and booted’ in the medical admissions unit, surrounded by bleeping drip stands, the chatter and clatter of …