Michael James Gilhooley

Acute intermittent porphyria leading to posterior reversible encephalopathy syndrome (PRES): a rare cause of abdominal pain and seizures

Acute intermittent porphyria (AIP) is an inherited deficiency in the haem biosynthesis pathway. AIP is rare, affecting around 1 in 75 000 people. Acute attacks are characterised by abdominal pain associated with autonomic, neurological and psychiatric symptoms. AIP is rarely associated with posterior reversible encephalopathy syndrome (PRES). PRES is a clinicoradiological condition caused by the failure of the posterior circulation to autoregulate, resulting in cerebral oedema, headaches, nausea and seizures. This association is important because drugs used in the management of seizures may worsen an attack of AIP. This article describes a case of AIP and PRES in a young woman.

Recurrent presumed herpes simplex keratitis and episcleritis in keratosis follicularis (Darier's disease).

Keratosis follicularis (Dariers disease) is an autosomal dominant dermatological disorder characterised by abnormal epidermal differentiation and loss of normal cell-to-cell adhesion. Cardinal features include diffuse hyperkeratotic warty papules with scaly plaques in seborrhoeic regions with associated mucous membrane changes. Dariers disease is rare (prevalence 2.7 in 100 000), with few ocular sequelae reported: commonly dry eye with or without Sjögrens syndrome. This is the first report, to the best of our knowledge, to describe a case of recurrent herpes simplex virus (HSV) keratitis and episcleritis in a 47-year-old man suffering from Dariers disease. The patients condition predisposed him towards developing ocular complications due to several factors: impaired desmosome function leading to poor cell-to-cell adhesion in the corneal epithelium, dry eye and HSV invasion of inflamed periocular skin presumably combining to allow viral colonisation of a poorly protected cornea.

Artificial vision: principles and prospects.

Purpose of review The aim of this article is to give an overview of the strategies and technologies currently under development to return vision to blind patients and will answer the question: What options exist for artificial vision in patients blind from retinal disease; how close are these to clinical practice? Recent findings Retinal approaches will be the focus of this review as they are most advanced in terms not only of development, but entry into the imagination of the general public; they are technologies patients ask about, but may be less familiar to practicing neurologists. The prerequisites for retinal survivor cell stimulation are discussed, followed by consideration of the state of the art of four promising methods making use of this principle: electronic prostheses, stem cells, gene therapy and the developing field of ophthalmic optogenetics. Summary Human applications of artificial vision by survivor cell stimulation are certainly with us in the research clinic and very close to commercialization and general use. This, together with their place in the public consciousness, makes the overview provided by this review particularly helpful to practicing neurologists.

Idiopathic Acquired Temporal Wedge Visual Field Defects.

ABSTRACT Our aim is to report 13 unusual cases of acquired, temporal sectoral scotomas. Such stationary “wedge” field defects have been reported previously in cases of presumed congenital nasal hypoplasia of the optic disc and as a complication of vitreoretinal surgery. To our knowledge, the literature provides no reports of similar defects occurring spontaneously. This is a descriptive clinical case series of 13 patients presenting with sub-acute monocular temporal visual field loss. All were clinically assessed and investigated with Goldmann perimetry, automated Humphrey visual fields, retinal optical coherence tomography, orbital ultrasound, and standard and multi-focal electroretinography. Cases were followed with serial perimetry for a mean of 3.9 years (range: 6 months to 10 years). Goldmann and Humphrey perimetry both demonstrated “wedge”-shaped defects extending temporally from an apex contiguous with, or lateral to, the blind spot. There was no evidence of optic disc drusen, glaucoma, disc hypoplasia, or focal retinitis. Sectoral optic disc swelling was not present in any patient at presentation. In all cases, the visual field defect remained stable. One patient developed a similar defect in the fellow eye after an interval of 5 years. Here we describe 13 cases of acquired, stationary temporal wedge scotomas, novel in the literature. Although the aetiology is uncertain, we propose damage to the nasal rim of the optic disc as a likely mechanism.

Bell’s palsy

Bell’s palsy is an idiopathic lower motor neurone palsy of the facial nerve. It is the most common cause of rapid-onset unilateral facial weakness, affecting approximately 1 in 5000 patients in the UK each year. A careful history and examination can usually exclude other causes of facial nerve paralysis. Seventy-one percent of affected patients regain full neurological function within a year. Timely treatment with prednisolone increases the likelihood of complete recovery. Ocular complications may occur if the patient cannot completely close the affected eye. This may be prevented by regular use of lubricants. Patients who do not recover nerve function may benefit from surgery to improve facial function and appearance.

P02-199 - Training medical students in psychiatry: an undergraduate perspective

Background Medical education in the UK has undergone dramatic change in recent years with both content and methodology being reviewed, assessed and updated in an iterative revolution. The aim has been to provide graduates with an educational experience more relevant to clinical practice. Aims To present the reflections and experiences of some students learning through these new educational approaches. Objectives The effects of these changes are felt keenly by students. Here, in comparison with the views of senior collogues, two medical students nearing the end of their training reflect upon their own experiences. They present a brief explaination of the structure of medical and psychiatric training in the UK followed by an exploration of one individual medical schools course. Methods The course structure will be detailed with reference to the guidance document “Tommorrows Doctors” and to the schools own literature. Medical students were consulted and an amalgamated “week in the life” based on their experiences produced. Results The integration of psychiatric education throughout preclinical and clinical courses, coupled with individual attention and encouragement in gaining useful transferable skills, were seen as most useful. Conclusion Reforms have been successful and show that the delivery of both a basis in psychiatry and additional transferable skills (such as audit, research and publication) is best achieved by individual mentorship from an experienced clinican. A continued reflection on how current practices may be modified to improve student experience is essential, but should also seek ways (such as more indivdualised attention) to improve recruitment and retention.

P03-89 - How are large scale studies of medication influencing change in our treatment strategies for schizophrenia?

Background Many studies have recently been carried out to compare the effectiveness of various antipsychotic agents. Aims and Objectives We wished to determine what could be learnt from these studies about the effectiveness of antipsychotics, and whether this should influence choice of treatment. Method We carried out a literature search using PUBMED. We directed special attention to large studies comparing medications in schizophrenia. These studies included CUTLASS, CATIE, SOHO, CAFE, and EUFEST (Kahn 2008, Haro 2006, Jones 2006, Lieberman 2005, Perkins 2008), as well as studies by Tihonen 92006, 2009) The studies were critically reviewed. Results The different studies measure different aspects of care, at different phases of the illness. This illustrates the need to study schizophrenia through a stage model. Furthermore, different outcome measures are proposed. We believe that discontinuation data, on which some studiesdepend, is a weak measure of effectiveness. Important doubts arise regarding the choice of patients (those requiring switching of antipsychotic) in CUTLASS, and also regarding potential observer bias in this study. Conclusion There is much information to be gathered from the results of such studies. However interpretation is made more difficult by problems within the study designs themselves. On balance it does appear that different antipsychotics have different effectiveness. The main difficulty in putting these results into practice is concern among clinicians and patients regarding side effects.