Anti-CASPR2 Antibody-Associated Syndrome Presenting With Episodic Ataxia.

The anti-CASPR2 antibody-associated syndrome is a rare immune-mediated disorder. Most case reports describe neurologic symptoms that include encephalic signs, peripheral nerve hyperexcitability, dysautonomia, or neuropathic pain. We report the case of a 70-year-old man, admitted to the emergency department with complaints of slurred speech and imbalance. Neurological examination was relevant for dysarthria, hyperreflexia, and pancerebellar syndrome. Cranial CT and basic laboratory tests were normal and he spontaneously recovered after 14 hours. Over the next four months, the patient experienced three similar episodes in relation to stressful events (emotional and organic disturbances like prolonged fasting and vaccination). A contrast-enhanced MRI was performed, along with extensive laboratory testing, analysis of cerebrospinal fluid (CSF), paraneoplastic investigation, and next-generation sequencing panel for episodic ataxias. The results revealed oligoclonal bands in the CSF and positive anti-CASPR2 antibodies both in serum and CSF. Three-day-IV- methylprednisolone pulse followed by plasmapheresis and monthly intravenous immunoglobulins was performed with good response. In conclusion, the neurological manifestations that led to the diagnosis of anti-CASPR2 antibody-associated syndrome were intermittent self-limiting episodes of ataxia, often triggered by concurrent stress-inducing factors. This case supports the aim of other authors to add paroxysmal cerebellar ataxia to the spectrum of the anti-CASPR2 antibody syndrome.

Clinical Evolution of Tardive Cervical Dystonia from Antecollis to Retrocollis.

Tardive dystonia occurs after exposure, over months to years, to antipsychotics and other drugs that block dopaminergic receptors. Anterocollis is a rare form of cervical dystonia which is usually disabling for the patient. Here, we present the case of a 61-year-old woman with Alzheimer's dementia diagnosed eight years ago who was previously medicated with antipsychotics. Two years before admission, she was medicated with olanzapine. She presented to the emergency room with a sustained flexion posture of the neck that was difficult to feed. She had a marked and fixed anterocollis and severe akathisia. After the administration of propofol to perform computerized tomography, the abnormal posture disappeared. Subsequently, she was started on biperiden without improvement. One week later, olanzapine was suspended, and she was progressively started on propranolol, trihexyphenidyl, and tetrabenazine. Cervical posture improved, but two weeks later, she presented with a left laterocollis, which allowed feeding, and improvement of akathisia. We present a case of tardive dystonia supported by the beginning of dystonia five months after olanzapine administration and improvement after its suspension. The coexistence of degenerative pathology is a risk factor for dystonia, which often persists despite the suspension of the causative agent. Therefore, non-pharmacological treatment and approach with antipsychotics with a better profile of extrapyramidal effects should be preferred in patients with dementia.

Is there a time window for MRI in Wernicke encephalopathy - a decade of experience from a tertiary hospital.

OBJECTIVE: Wernicke encephalopathy (WE) is a neuropsychiatric syndrome caused by thiamine deficiency. Despite its low sensitivity, brain magnetic resonance imaging (MRI) is the most useful diagnostic technique. Our aim was to investigate whether the timing of the imaging study, and thiamine replacement can influence brain MRI findings in these patients. METHODS: Retrospective observational study of hospitalized patients between January/2008 and December/2020 with a clinical diagnosis of WE. Data from clinical presentation, diagnostic features, therapeutic approach, and outcomes were collected. RESULTS: We identified 41 patients (55 ± 13.3 years) with WE. Brain MRI was performed in 36 patients, and one third had T2/FLAIR hyperintensities suggestive of WE. We found an association between a history of poor diet and periventricular hyperintensities (p = 0.023), especially on the ventral surface of the thalamus and the periaqueductal region. It was found that the odds of having a typical imaging of WE decreased by 5.3% for each additional unit (100 mg) of thiamine administered (p = 0.046) (95% CI [0.89, 0.99]). On the other hand, the number of days from clinical presentation was not found to be a viable predictor (p = 0.254) (95% CI [0.88, 1.03]) Recovery was positively correlated with the total dose of thiamine received until discharge (p = 0.020). CONCLUSIONS: MRI hyperintensities seem to be dependent on the timing of thiamine correction and, particularly, on the thiamine dosage prescribed at admission. Nevertheless, thiamine replacement should not be delayed, as its timely prescription is associated with a better prognosis at discharge.

Idiopathic generalised epilepsies of adult onset: a reappraisal and literature review.

Idiopathic generalised epilepsies are characterised by widespread, symmetric, bilateral spike-and-wave discharges on EEG. Onset typically occurs in children and adolescents, but may also start in adulthood. These forms of adult onset constitute the focus of this review. A critical analysis of the medical literature was conducted through a narrative review search of PubMed and Medline databases. Cases of idiopathic generalised epilepsies with adult onset, in general, are not considered to be independent nosological entities. The "grand mal on awakening" seems to prevail among the idiopathic syndromes of adult onset. The EEG findings that question the diagnosis of late-onset idiopathic generalised epilepsies consist mainly of patterns interpreted as representing focal epileptiform activity. Normal brain MRI and typical EEG abnormalities are essential for diagnosis. For all cases with symptomatology of suspected adult-onset idiopathic generalised epilepsy, it is mandatory to exclude neurological conditions that may be associated with epileptic seizures which appear in this age group. A correct diagnosis of adult-onset idiopathic generalised epilepsy alleviates concern for a symptomatic origin, leading to appropriate antiepileptic treatment.

Role of the "other Babinski sign" in hyperkinetic facial disorders.

BACKGROUND: The "other Babinski sign" consists in the co-contraction of the orbicularis and frontalis muscles, causing an eyebrow elevation during ipsilateral eye closure. It cannot be voluntarily reproduced. AIMS OF THE STUDY: To determine the utility of this sign in the differential diagnosis of hyperkinetic facial disorders. METHODS: The presence of the sign was assessed in consecutive patients with blepharospasm, primary hemifacial spasm or post-paralytic facial syndrome treated in a botulinum toxin outpatient clinic. RESULTS: Of the 99 patients identified, 86 were included, 41 with blepharospasm (32 female, mean age 71±11years), 28 with hemifacial spasm (16 female, mean age 65±12years) and 17 with post-paralytic facial syndrome (14 female, mean age 50±17years). The sign was detected in 67.9% of the patients with hemifacial spasm, in 23.5% of the post-paralytic facial syndrome group and in none of the patients with blepharospasm, exhibiting a sensitivity of 51% and a specificity of 100% for the diagnosis of hemifacial spasm/post-paralytic facial syndrome and a specificity of 76% for hemifacial spasm, compared to post-paralytic facial syndrome. CONCLUSIONS: This sign is highly specific for the diagnosis of peripherally induced hyperkinetic facial disorders. Its assessment should integrate the routine examination of patients with abnormal facial movements.

Sexual dysfunction in women with Parkinson's disease.

BACKGROUND: Sexual dysfunction in women with Parkinson's disease is poorly understood and research in this area is scarce. The objectives of this study were sexual function characterization in female Parkinson's disease patients, description of sexual dysfunctions, correlation with disease characteristics, and comparison with matched healthy controls. METHODS: Social and demographic data from consecutive female patients with Parkinson's disease and matched healthy controls were collected. The following instruments were used: UPDRS, the Hoehn and Yahr scale, the Beck Depression Inventory-II, the Female Sexual Function Index, and the Sexual Dysfunction Inventory. The only exclusion criterion was cognitive deterioration precluding comprehension of the study scope and its instruments. RESULTS: Of the 95 patients identified, 61 were included. Mean age was 66 years (range 40-89 years), and mean disease duration was seven years (range 1-18 years). Twenty-nine presented an akinetic-rigid syndrome, 25 tremoric disease, and, the remaining, a mixed type of disease. Mean "on" total/part III UPDRS scores were 46 ± 15.0 and 31 ± 8.9. Sexual dysfunction was present in 86.9% of patients and 79.0% of controls, according to the Female Sexual Function Index (p < .01), and in 57.4% of patients and 22.6% of controls, according to the Sexual Dysfunction Inventory (p < .001). Multivariate binary logistic regression identified age and depressive symptoms as positive predictors in the severity of sexual dysfunction. Disease duration, UPDRS part III score, Hoehn and Yahr stage, and antiparkinsonian medication did not show significant predictive value. CONCLUSIONS: Sexual dysfunction is more prevalent in women with Parkinson's disease than in controls and is predicted by older age and severity of depressive symptoms. © 2016 International Parkinson and Movement Disorder Society.

Hypertrophic olivary degeneration and cerebrovascular disease: movement in a triangle.

Hypertrophic olivary degeneration is a rare kind of trans-synaptic degeneration that occurs after lesions of the dentatorubro-olivary pathway. The lesions, commonly unilateral, may result from hemorrhage due to vascular malformation, trauma, surgical intervention or hypertension, tumor, or ischemia. Bilateral cases are extremely rare. This condition is classically associated with development of palatal tremor, but clinical manifestations can include other involuntary movements. We describe 2 cases: unilateral hypertrophic olivary degeneration in a 60-year-old man with contralateral athetosis and neurologic worsening developing several years after a pontine hemorrhage and bilateral hypertrophic olivary degeneration in a 77-year-old woman with development of palatal tremor, probably secondary to pontine ischemic lesions (small vessel disease).

Dramatic recovery after IV thrombolysis in anterior circulation ischemic stroke: predictive factors and prognosis.

BACKGROUND AND PURPOSE: Dramatic recovery (DR) after thrombolysis is dependent of vessel recanalization and is predictive of favorable clinical outcome. Successful recanalization is not equivalent to DR. Our objective was to assess its frequency and evaluate clinical and biochemical predictors and their prognosis. METHODS: We analyzed prospectively registered data from January 2007 to September 2012. All patients with anterior circulation stroke and NIHSS≥10 were included. Improvement of ≥10 or a score ≤3 24h after thrombolysis was defined as DR. RESULTS: In the 230 patients included, DR frequency was 23% (53 patients). DR group had lower admission NIHSS (14 vs 17, p=0.024), less total anterior circulation infarcts (p=0.009), more partial anterior circulation infarcts (p=0.003) and lower blood glucose on admission (118 vs 128mg/dL, p=0.013). All patients with DR had an Alberta Stroke Program Early CT Score (ASPECTS) ≥7, vs 89.3% without DR (p=0.013). Arterial recanalization, defined as hyperdense middle cerebral artery sign disappearance on control CT, was more frequent in the DR group (68.4% vs 14.1%, p<0.001). Intracranial hemorrhage on 24h-control CT scan was less frequent in the DR group (p<0.001). Multinomial logistic regression analysis showed that ASPECTS score was an independent predictor of DR (OR=2.35, 95%CI=1.32-4.16, p=0.003) and CT evidence of recanalization was independently associated with DR (OR=11.60, 95%CI, 3.02-44.53, p<0.001). CONCLUSION: DR is a frequent occurrence. ASPECTS score is an independent predictor of DR, which is also independently associated with CT evidence of middle cerebral artery recanalization.

[Cognitive decline of medicamentous etiology]. / Declínio Cognitivo de Etiologia Medicamentosa.

In the elderly there is a high risk of inappropriate medication and adverse effects of polypharmacy. A 68 year-old female patient resorted to the Emergency Room for suspected stroke. According to the husband, in the six months prior to admission, she became progressively disorientated and dependent. She had resorted to various appointments from different specialties and was polymedicated. It was impossible to clarify the exact dosage. On neurological examination she presented disturbance in attention and memory, disorientation, constructional apraxia, myoclonus and gait imbalance. After the suspension of all chronic medication, she showed gradual improvement. By the time of discharge, her neurological examination was completely normal. Iatrogenic effect of drugs as a cause of reversible dementia should be considered. All patients, particularly the elderly and their caregivers, should be suitably informed about the drugs that are prescribed and the dosages used. Using the biopsychosocial model could prevent inappropriate polypharmacy and iatrogeny.

Nos doentes idosos há um risco elevado de medicação inapropriada e de efeitos adversos da polimedicação. Doente do sexo feminino, 68 anos, previamente autónoma, recorre ao Serviço de Urgência por suspeita de Acidente Vascular Cerebral. Segundo o marido, nos seis meses prévios à admissão, apresentou progressiva dependência funcional e períodos de desorientação. Por esse motivo, havia recorrido a consultas de diferentes especialidades, encontrando-se polimedicada, sendo impossível perceber a posologia administrada. Apresentava-se desatenta, desorientada, apráxica, com mioclonias e marcha atáxica. Durante o internamento, após suspensão de toda a medicação crónica, revelou melhoria gradual, apresentando, à data de alta, exame neurológico completamente normal. A iatrogenia medicamentosa como causa reversível para quadros demenciais deve ser equacionada. Todos os doentes, particularmente os idosos e seus cuidadores, deverão ser adequadamente informados acerca dos medicamentos prescritos e da respetiva posologia. A utilização do modelo biopsicossocial poderá evitar a polimedicação inapropriada e a iatrogenia.

Cerebral hyperperfusion syndrome: a novel presentation of internal carotid artery dissection.

Cervical artery dissection (CeAD) occurs preferentially in the middle-aged, and its annual incidence rate is 2.6 to 3.0 per 100,000.(1) Manifestations of internal carotid artery dissection (ICAD) include ischemic stroke and TIA (>70% of patients), headache, neck pain, Horner syndrome, cranial nerve palsy, pulsatile tinnitus, and, rarely, subarachnoid hemorrhage.(2) Cerebral hyperperfusion syndrome is known to occur after carotid artery revascularization procedures and it is thought to result from the combination of several factors that impair cerebral vascular autoregulatory mechanisms.(3.)