Fizzah Ali

Evolving evidence in adult idiopathic intracranial hypertension: pathophysiology and management

Idiopathic intracranial hypertension (IIH) is a rare but important disease associated with significant morbidity. There is an expected rise in prevalence in line with the escalating global burden of obesity. Modern revisions in the terminology and diagnostic criteria for IIH help guide clinicians in investigations and researchers in standardising recruitment criteria for clinical trials. The pathophysiology of IIH is incompletely characterised; suggested underpinning mechanisms include the role of cerebrospinal fluid regulation as well as metabolic and endocrinological perspectives. Recent treatment trials are providing insights into the management but debate still surrounds key areas in treatment. This review will provide an up-to-date discussion on the potential pathogenic mechanisms and management of IIH.

Neurosurgical treatment for Gilles de la Tourette syndrome: The Italian perspective

Despite the availability of both pharmacological and behavioral therapies for Gilles de la Tourette Syndrome (GTS), a subgroup of patients suffer intractable disease and require treatment through non-conservative means. Since 1955, various neurosurgical procedures have been considered as a potential resort for this severely affected sub-group; this article reviews the neurosurgical treatment for GTS, with in-depth discussion on deep brain stimulation (DBS). Internationally, 39 cases of GTS undergoing DBS treatment have been published. Yet, despite the small numbers of patients assessed in centers involved and the inconsistency of postoperative assessment between centres, DBS has been considered the most promising neurosurgical procedure. Patients resorting to surgical measures often carry the additional burden of a diverse range of behavioral disturbances found to significantly impair health-related quality of life; comorbid psychopathologies must be considered when postoperatively evaluating the benefits of DBS. The authors acknowledge that out of the 39 documented cases of GTS treated with DBS, 18 cases originate from Italy; thus, it seems both relevant and pertinent to recount and present the lived Italian experience of that subgroup of GTS treated by DBS, for the first time. Recommendations from such experience are presented.

The assessment of consciousness during partial seizures.

A wide range of controversial definitions and dynamic components surround the multi-dimensional concept of consciousness, with important reflections on the phenomenological description of ictal states relevant to epileptic seizures. The inadequacies of terminology, the insufficient emphasis on the subjective nature of consciousness, as well as the intrinsic limitations of the simple versus complex dichotomy for partial seizures, are to be considered in view of a modern definition of consciousness. In this paper, we review the difficulties encountered by clinicians in assessing the ictal conscious state in patients with epilepsy, and illustrate how a more sophisticated bi-dimensional model of consciousness can prove a valuable conceptual tool for the clinical assessment of ictal consciousness and the categorization of seizures.

Pathological Laughter in Gilles de la Tourette Syndrome: An Unusual Phonic Tic

Patients with Gilles de la Tourette syndrome (GTS) can display socially inappropriate behaviors as part of their multiform tic phenomenology. Pathological laughter (PL), defined as the presence of episodic and contextually inappropriate outbursts of laughter, has been detailed as a symptom of various psychiatric and neurological conditions. We present a case series of eight subjects diagnosed with GTS who reported PL as part of their tic repertoire. All subjects experienced PL as a simple phonic tic, accompanied by characteristic premonitory urges and significant impairment in social interactions. In addition, all patients presented with multiple tic‐related symptoms (mainly self‐injurious behaviors and echolalia, n = 7; palilalia, n = 6; coprolalia/mental coprolalia, n = 5), and six patients had comorbid conditions (in particular obsessive‐compulsive disorder/behaviors, n = 7; attention‐deficit hyperactivity disorder, n = 4). We suggest that the pathophysiological mechanisms underlying the expression of PL as a tic could involve a dissociation between frontostriatal and limbic networks.

Paligraphia and written jocularity in Gilles de la Tourette syndrome.

Gilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder of childhood onset, characterized by multiple motor tics and one or more phonic tics. Tics are defined as sudden, rapid, recurrent, nonrhythmic, stereotyped movements, or vocalizations. Tics comprise a dynamic and highly heterogeneous class of symptoms; in addition, an array of concomitant complex tic-related symptoms have been described in GTS populations. These include involuntary, inappropriate swearing (coprolalia), involuntary obscene gestures (copropraxia), copying others (echolalia and echopraxia), repeating words and actions (palilalia and palipraxia), and more complex nonobscene socially inappropriate behaviors. Each of the aforementioned items harbours a written manifestation; echographia is a rewriting of phrases produced by the reader, coprographia is the exhibition of coprolalic tendencies in writing, and finally, the paligraphia variant is a tendency to word iterations generated by the patient. Although the range of tic-related symptoms is omitted from current diagnostic criteria, the presence of such features strengthens the diagnostic confidence of the clinician and is suggestive of ‘‘full-blown GTS.’’ Moreover, such behaviors in association with tics are increasingly noted as socially detrimental and contributory to the impairment in quality of life in patients with GTS. We report two cases of patients diagnosed with GTS who displayed abnormal repetition of written letters, words, or phrases (paligraphia). The first example (Case 1) of altered writing illustrated in the present report was demonstrated at the Tourette Clinic, Department of Neuropsychiatry, BSMHFT and University of Birmingham, UK. The patient, a man aged 47 who had been suffering with GTS since early childhood, presented with multiple motor tics mainly affecting his face in the form of grimacing, eye and mouth movements, and involuntary vocalizations. He also reported several tic-related symptoms, including forced touching and licking compulsions, and was diagnosed with comorbid obsessive–compulsive disorder. He was medication free at the time of the assessment, when he provided us with written evidence indicating his compulsive perseverance, apparent in repetition and jocularity, including wordplay (Fig. 1a). He produced a string of six words punctuated with grammar, comprising two words, one commencing and the other terminating the sequence, which differ only for the first letter (‘‘R’’-‘‘H’’). Four rhyming words are encapsulated within and are characterized by assonance (‘‘ie’’-‘‘ie’’-‘‘y’’-‘‘ie’’), some degree of alliteration (‘‘L’’-‘‘L’’) and sexual allusion. On direct questioning, the patient reported that he found the consonant sounds ‘‘yyy’’ and ‘‘xxx’’ ‘‘particularly satisfying.’’ Case 2, a 9-year-old girl who was contacted for research purposes through Tourettes Action (UK), was requested to return a signed consent form along with a questionnaire booklet. Paligraphia is evident as the recurrent repetition of her name in the signature space (Fig. 1b). Of note, the second and third iterations are slightly less distinct, possibly suggesting a graphical form of self-echoing. Paligraphia and echographia have been previously reported in the context of advanced degenerative, traumatic or vascular conditions, as well as in catatonic syndromes. Paligraphia is an involuntary alteration in writing typified by compulsive reiteration, two or more times, of the subject’s own semantically adequate words or phrases. We report two examples of paligraphia in the context of GTS. In Case 1, paligraphia was demonstrated by repetition of written words with minimal syllabic variation and explicit jocularity, particularly in relation to the phonetic feature of words. The particularly satisfying feeling reported by this patient after his written production reminds of the ‘‘just right’’ phenomena extensively described in GTS, for which the ambiguous term ‘‘compulsive tics’’ has been coined. On the other hand, a relief of anxiety might also have led to such emotional response. This raises the question whether the phenomenology of these symptoms resembles more that of tics or, rather, of compulsions. Interestingly, Case 1 had a diagnosis of comorbid obsessive–compulsive disorder, a condition where specific alterations in handwriting performance have been observed. Historically, instances of graphical self-repetition and written jocularity have been documented in the posthumous, and arduously debated, diagnosis of Wolfgang Amadeus Mozart. Several of Mozart’s letters display comic aspects including word games and word scrambling as well as sexual insinuation. However, the opinion that he might have suffered from GTS has been strongly challenged; hence, his playing with

Gates and Rowan's non-epileptic seizures

Recent decades have witnessed a renewed surge of interest in nonepileptic seizures (NES), also termed psychogenic seizures or dissociative seizures. Enhanced diagnostic techniques coupled with evolving seizure classification systems are only some of the contributory factors driving this swelling interest. The original edition of Non-Epileptic Seizures, edited by Drs. A. J. Rowan and J. R. Gates, was published almost two decades ago and based on a 1990 symposium, ‘‘The Dilemma of Non-Epileptic Seizures’’. Schachter and LaFrance’s third edition remains true to the original framework, comprising separate sections on neurological, psychiatric, and neuropsychological aspects, with a final section on treatment fundamentals that integrates insights from each of these different perspectives. This structure reinstates the pre-twentieth-century bridge between neurology and psychiatry; and consequently offers a truly multidisciplinary approach to NES. This volume of 33 contributions from expert authors presents an organised network of updated material on NES, an entity now noted to be both common and increasingly complex conceptually. The text commences with diagnostic issues, covering clinical characteristics and classification, alongside an investigation of epidemiology and disease burden. Diagnostic differentiation between patients with NES and patients with epilepsy is a topical matter (Ali et al., 2010). Exploration of ictal subjective symptomatology through analysis of communication can improve diagnostic accuracy. Patients with epilepsy and patients with NES differ in their metaphoric conceptualisation of ictal experiences, with patients with epilepsy mainly using metaphors depicting the seizure as an agent/force or event/situation, and patients with NES preferring metaphors of space/place. This diagnostic dilemma is appropriately covered with detailed reference to linguistic analysis (Plug, Sharrack, & Reuber, 2009). The text is episodically punctuated with well-researched historical information. Michael Trimble provides an inspiring historical overview of this neuropsychiatric condition. His timeline begins with the original Egyptian and Greek understanding of NES as a ‘‘female malady’’ attributed to the frustrated wandering womb. COGNITIVE NEUROPSYCHIATRY 2011, 16 (4), 382 384

The "Imprisoned Illness:" Motor Tic Disorder in Rainer Maria Rilke's Notebooks of Malte Laurids Brigge

Rainer Maria Rilkes novel The Notebooks of Malte Laurids Brigge contains a reference of interest for the catalog of literary portrayals of tiqueurs. In this article, we report his description of a Parisian character displaying multiple motor tic symptoms, along with a brief commentary.

014 Ictal consciousness in epilepsy vs non-epileptic attack disorder

Aims Varying linguistic profiles between patients with epilepsy and patients with non-epileptic attack disorder (NEAD) may reflect underlying variations in subjective seizure experience (Plug et al 2009). We hypothesised that exploration of subjective seizure symptoms could enhance knowledge of the differing natures between epilepsy and NEAD. We performed a quantitative evaluation of both the contents of consciousness and the general level of awareness during seizures using the Ictal Consciousness Inventory (ICI) (Cavanna et al 2008). Methods Ninety-one adult out-patients attending general neuropsychiatry/epilepsy clinics (Department of Neuropsychiatry, BSMHFT and University of Birmingham) with established diagnoses of either epilepsy (n=62) or NEAD (n=29) completed an ICI for each witnessed seizure. A total of 155 questionnaires (epilepsy: n=111; NEAD=44) were generated. ICI-Level (ICI-L) and ICI-Content (ICI-L) scores were calculated. Results Mann-Whitney U Test demonstrated statistically significant higher ICI-L and ICI-C scores in NEAD (p=0.01). Conclusions Subjective reports of consciousness experiences vary between NEAD/epilepsy. Patients with NEAD report significantly greater levels of general awareness/responsiveness and higher degrees of subjective content during attacks. Larger cohorts are required to confirm evidence for the potential usefulness of the ICI in enhancing understanding of subjective seizure experiences and supporting differential diagnosis. References—Cavanna AE, Mula M, Servo S, Strigaro G, Tota G, Barbagli D, Collimedaglia L, Viana M, Cantello R, Monaco F. Measuring the level and contents of consciousness during epileptic seizures: the Ictal Consciousness Inventory. Epilepsy and Behaviour 2008;13:184–188. Plug L, Sharrack B, Reuber M. Seizure metaphors differ in patients’ account of epileptic and psychogenic nonepileptic seizures. Epilepsia

PO108 Susac syndrome: a case for early, aggressive and sustained treatment

Introduction We report a case of Susac syndrome, initially suspected to be multiple sclerosis, and advocate diagnostic caution and high suspicion. We describe a successful therapeutic approach comprising corticosteroids, intra-venous immunoglobulin and cyclophosphamide for encephalopathic relapse of Susac syndrome. Case report A 56 year old woman presented with headache, visual disturbance, chest wall hypoaesthesia and unsteadiness that was initially thought due to multiple sclerosis. Over the course of her disease she developed bilateral tinnitus and hyperacusis, later accompanied by hearing loss. Brain MRI showed white matter changes with a propensity for the corpus callosum. Full field retinal fluorescein angiography displayed multiple branch retinal artery occlusions with retinal vasculitis. Pure tone audiometry revealed impairment in the low to mid-range frequency bands bilaterally. Disease course was complicated by encephalopathic relapse, presenting with seizure. Repeated courses of immunotherapy (pulses of intra-venous methylprednisolone, cycles of intra-venous immunoglobulins and cyclophosphamide) have suppressed symptoms and halted disease progression. Conclusion Susac syndrome is a key differential diagnosis of neuro-inflammatory disease. International multi-centre trials are required to establish optimal therapeutic strategies. Meanwhile, we find an aggressive, sustained regime of monthly immunoglobulin and cyclophosphamide for at least six months to maintain recovery in the encephalopathic form of Susac Syndrome.

PO191 Diffuse psoriatic exacerbation following immunoglobulin administration

Introduction Immunoglobulin therapy has been associated with eczematous, erythematous, allergic rashes, but an association with psoriatic exacerbations is unreported. Case A 51 year old man with quiescent plaque psoriasis presented with progressive ascending quadriparesis over 48 hours, preceded by a diarrhoeal illness. He was diagnosed with an acute inflammatory demyelinating polyneuropathy, as confirmed by electrophysiology and raised CSF protein. Approximately 3 weeks after initial course of intra-venous immunoglobulin (0.4 g/kg for 5 days) he was noted to have a mild palmar rash considered negligible. A second cycle of treatment was considered in view of his extensive on-going disability, functional dependence due to tetraplegia, with slow meaningful response to initial treatment. Approximately one week subsequent to the second cycle, a generalised erythematous and pustular rash with widespread exfoliation, suggestive of either a drug rash or generalised pustular psoriasis occurred. Skin biopsy confirmed psoarisis. This required extensive and prolonged dermatological treatment including emollients, antibiotics and acitretin. In the face of distressing erythroderma and complicating infection, neurological rehabilitation has been remarkably delayed. Conclusion We report the first case of a widespread, exfoliative and erythematous psoriatic exacerbation following immunoglobulin administration. Serious dermatological complications should be considered in patients with pre-existing psoriasis prior to immunoglobulin administration.