Moyamoya-Like Vasculopathy and Orbital Trauma: An Association.

An Asian man in his 20s developed asymptomatic ipsilateral moyamoya-like vascular changes following orbital and head trauma. An ipsilateral traumatic optic neuropathy with extensive optic cupping ensued. The complex embryology of the ocular vascular development is reviewed as having a potential causative role in the intracranial carotid vasculopathy.

Adult hemiconvulsive hemiatrophy syndrome: a novel clinicoradiologic disorder in adults.

The association of focal motor seizures with cerebral hemiatrophy is a recognised rare paediatric syndrome known as 'hemiconvulsion, hemiatrophy and epilepsy' (HHE). To date, HHE has not been reported in adults. We present four adult patients with striking similarities to HHE, following alcohol withdrawal in chronic alcoholics. We document the imaging findings in the acute and subacute phases, discuss the underlying mechanisms and present a hypothesis regarding the pathophysiology.

Inflammatory epilepsy (FIRES) and haemophagocytic lymphohistiocytosis (HLH): an adult case.

We describe a man in his 30s with haemophagocytic lymphohistiocytosis (HLH), secondary to an upper respiratory tract infection, with subsequent febrile infection-related epilepsy syndrome. He had a prolonged hospital admission, during which he was treated with chemotherapy for HLH and antiepileptic medications for refractory seizures. He was discharged fully dependent to a care facility and died from aspiration pneumonia 11 months later. This case report highlights his management and discusses these conditions' pathophysiology and future management.

Osmotic demyelination syndrome: novel risk factors and proposed pathophysiology.

BACKGROUND: Osmotic demyelination syndrome (ODS) is non-inflammatory demyelination in response to an osmotic challenge. It can be pontine or extrapontine in presentation. AIMS: To retrospectively review cases involving ODS and define the spectrum of causes, risk factors, clinical and radiological presentations, and functional outcomes. RESULTS: The study utilised data from 15 patients with a mean age of 53.6 years. Malnutrition (9; 60%) and chronic alcoholism (10; 66.7%) were the most common associated disorders. Two (13.3%) patients had severe hyponatraemia (<120 mmol/L). The average highest single-day change was 5.1 mmol/L. Radiologically, 14 (93.3%) had pontine and 6 (40%) had extra-pontine lesions. Hypokalaemia (14; 93.3%) and hypophosphataemia (9; 60%) were commonly associated. Common clinical manifestations include altered consciousness/encephalopathy (9; 60%), dysphagia (4; 26.7%) and limb weakness (4; 26.7%). At 3 months, two (14.3%) had died and six (40%) were functionally independent (modified Rankin scale 0-2). CONCLUSION: We found that ODS occurred despite appropriate correction rates of hyponatraemia. Factors such as malnutrition, chronic alcoholism, hypokalaemia and hypophosphataemia are thought to play a role in its pathogenesis. Approximately half of the patients survived and became functionally independent.

Berg Balance Scale Score as a Predictor of Independent Walking at Discharge among Adult Stroke Survivors.

Purpose: The purpose of this study was to determine which admission clinical assessment or assessments best predict independent walking at discharge (IW-DC) among adults with unilateral impairments hospitalized for rehabilitation post-stroke. Method: On admission, we collected measures of balance (Berg Balance Scale [BBS]), physical function (Chedoke McMaster Stroke Assessment - Activity Inventory), postural and leg motor control (Chedoke McMaster Stroke Assessment - Impairment Inventory), functional independence (FIM), sensation and proprioception, and pushing behaviour (Four-Point Pusher Score). Logistic regression determined which measures influenced the odds of IW-DC. A receiver operating characteristic (ROC) curve determined the cut-points for variables retained in a multivariable model. Results: Data were available for 68 participants, aged a median of 57 (interquartile range [IQR] 16) years, who had received inpatient rehabilitation for a median of 8 (IQR 10) weeks. The odds of IW-DC were reduced with greater impairments in motor control, sensation, or proprioception and with pusher behaviour and increased with lesser impairments in balance, physical function, and functional independence. Only the BBS was retained in the multivariable model (OR 1.23; 95% CI: 1.02, 1.49). An admission BBS score of 14 or more points (sensitivity 0.73; specificity 0.89) predicted IW-DC (area under the ROC curve 0.81; 95% CI: 0.71, 0.92). Conclusions: Among adult stroke survivors, a BBS score of 14 or more provides information on the odds of achieving IW-DC.

Objectif : déterminer quelles évaluations cliniques à l'admission prédisent le mieux la marche autonome au congé (MAc) chez les adultes ayant des déficiences unilatérales qui sont hospitalisés en vue d'une réadaptation après un accident vasculaire cérébral (AVC). Méthodologie : à l'admission, les chercheurs ont colligé des mesures d'équilibre (échelle d'évaluation de l'équilibre de Berg ou ÉÉÉB), de fonction physique (évaluation des AVC Chedoke McMaster ­ inventaire des activités), de contrôle de la posture et de motricité des jambes (évaluation des AVC Chedoke McMaster ­ inventaire des déficiences), d'autonomie fonctionnelle (mesure d'autonomie fonctionnelle), de sensation et de proprioception et de comportement de poussée (score de poussée en quatre points). La régression logistique a déterminé les mesures qui accroissaient la possibilité de MAc. La courbe de caractéristique de fonctionnement du récepteur (ROC) a déterminé les seuils des variables retenues dans un modèle multivariable. Résultats : les chercheurs avaient des données sur 68 participants d'un âge médian (intervalle interquartile, ou IIQ) de 57 ans (16), qui avaient participé à une réadaptation d'une durée médiane de huit semaines (IQR 10) pendant leur hospitalisation. La possibilité de MAc diminuait proportionnellement à l'étendue des déficiences du contrôle moteur, de la sensation ou de la proprioception et du comportement de poussée et augmentait proportionnellement à la bénignité des déficiences en matière d'équilibre, de fonction physique et d'autonomie fonctionnelle. Dans le modèle multivariable, seule l'ÉÉÉB était conservée (rapport de cotes de 1,23; IC à 95 % : 1,02, 1,49). Un score d'ÉÉÉB d'au moins 14 points à l'admission (sensibilité = 0,73; spécificité = 0,89) était prédicteur de MAc (aire sous la courbe ROC de 0,81; IC à 95 % : 0,71, 0,92). Conclusion : chez les adultes qui ont survécu à un AVC, un score d'ÉÉÉB d'au moins 14 transmet de l'information sur la possibilité de MAc.

Primary leptomeningeal melanoma: the prognostic significance of its genetic signature and embryological origin.

Primary leptomeningeal melanomas are rare, comprising less than one percent of all brain tumours. They are aggressive and radioresistant tumours, with a poor prognosis. The mainstay of treatment is complete surgical resection and chemotherapy with limited success. Distinguishing a primary leptomeningeal melanoma from the more common metastatic disease can be difficult, and often requires the use of ancillary molecular testing. Primary central nervous system melanomas, including uveal melanomas, frequently exhibit mutations in GNAQ and GNA11, rare in the cutaneous and mucosal counterparts.A case of a primary leptomeningeal melanoma of the cerebellopontine angle is described. Molecular studies identified a GNA11 p.Q209L and a KIT p.M541L missense variant, with losses of chromosomes 1p and 3p demonstrated with cytogenetic studies. Complete surgical resection was not possible and leptomeningeal metastatic disease rapidly ensued despite immunotherapy. Further understanding of the molecular signature may translate to improved diagnosis, prognostication and development of targeted therapies.

Nivolumab-associated myositis myocarditis and myasthenia and anti-striated muscle antibodies.

An 82-year-old man was treated with neo-adjuvant nivolumab (programmed cell death protein 1 or PD-1 inhibitor) for local recurrence of melanoma developed myositis, myocarditis and a myasthenic-like syndrome with a fatal outcome. The occurrence of these three conditions may constitute a new immune checkpoint-induced syndrome. The relevance of the clinical features and the immunology is discussed. This case highlights the special role of anti-striated muscle antibodies as a predictor of mortality.

Checkpoint inhibitor myasthenia-like syndrome and myositis associated with extraocular muscle atrophy.

A patient with metastatic melanoma developed myasthenia-like syndrome and paraspinal myositis with subsequent extraocular muscle atrophy associated with immune checkpoint inhibitor treatment. MRI scan of the ocular muscles on admission was normal, however 3 months later revealed significant extraocular muscle atrophy.

Cerebral embolism and carotid-hyoid impingement syndrome.

Embolic stroke of undetermined source (ESUS) is not uncommon in young patients. Here, we describe two cases of stroke from an unusual aetiology; cerebral embolization from carotid artery injury presumed secondary to hyoid bone impingement. Both patients demonstrated angiographic evidence of hyoid bone impingement. Following resection of the greater cornu of the hyoid bone, neither patient had further strokes.

A rare suspected case of chronic nodular granulomatous herpes simplex encephalitis in an adult.

Herpes simplex encephalitis is the most common sporadic viral encephalitis in the western world, HSV-1 (herpes simplex virus) being the mostly commonly implicated serotype. The disease is usually monophasic, although patients may relapse weeks, months or years after initial infection. This chronic granulomatous inflammatory process is almost exclusively described in children and rarely forms discrete enhancing parenchymal nodules. We present the clinical and radiological features of an unusual case of chronic nodular granulomatous herpes encephalitis with enhancing "mass-like" nodules in an adult. To the author's knowledge, this is the first reported case of macroscopic "mass-like" nodular granuloma formation in an adult.

Reducing haemorrhagic transformation after thrombolysis for stroke: a strategy utilising minocycline.

Haemorrhagic transformation (HT) of recently ischaemic brain is a feared complication of thrombolytic therapy that may be caused or compounded by ischaemia-induced activation of matrix metalloproteinases (MMPs). The tetracycline antibiotic minocycline inhibits matrix MMPs and reduces macroscopic HT in rodents with stroke treated with tissue plasminogen activator (tPA). The West Australian Intravenous Minocycline and TPA Stroke Study (WAIMATSS) aims to determine the safety and efficacy of adding minocycline to tPA in acute ischaemic stroke. The WAIMATSS is a multicentre, prospective, and randomised pilot study of intravenous minocycline, 200 mg 12 hourly for 5 doses, compared with standard care, in patients with ischaemic stroke treated with intravenous tPA. The primary endpoint is HT diagnosed by brain CT and MRI. Secondary endpoints include clinical outcome measures. Some illustrative cases from the early recruitment phase of this study will be presented, and future perspectives will be discussed.

First seizure presentation: do multiple seizures within 24 hours predict recurrence?

We compared clinical features and prognosis of 72 adults with a first-ever seizure presentation comprising multiple discrete seizures within 24 hours to 425 patients presenting with a single seizure. Those presenting with multiple seizures were no more likely to have seizure recurrence, irrespective of etiology or treatment. Hence, a presentation with multiple seizures within 24 hours should be regarded as a single event, in keeping with the International League Against Epilepsy recommendations.