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1.
Mult Scler Relat Disord ; 78: 104924, 2023 Oct.
Article En | MEDLINE | ID: mdl-37566975

INTRODUCTION: People with multiple sclerosis (pwMS) may suffer from some degree of impaired social cognition (SC), the process that integrates the mental operations underlying social interactions. SC is still not clearly characterized in the early stages of MS, and it is not defined whether SC is independent of cognitive impairment. METHODS: In this cross-sectional study, we aimed to compare SC measures in a population of early (≤5 years) relapsing-remitting MS (RRMS) with an age, sex, and education-matched control group. All participants performed a clinical and a comprehensive neuropsychological assessment. SC evaluation included assessment of facial emotion recognitionn by the Emotion Recognition Task, affective theory of mind (ToM) by the Reading the Mind in the eyes Test (RMET) and cognitive ToM by the Faux Pas test (FPT). Depression, anxiety, fatigue, and quality of life were also assessed. We included 38 pwMS (mean age 34.8 ± 8.7, 78.9% female sex, mean disease duration 1.9±1.3 years) and 38 healthy controls (mean age 34.9 ± 8.4, 81.6% female sex). RESULTS: Altered social cognition was present in 34.2% of pwMS. Participants with MS performed worse than controls on measures of cognitive ToM, and affective ToM. There were no differences regarding FER. Cognitive ToM and FER correlated with cognitive functions, but no correlation was found between affective ToM and cognitive tests. The only clinical factor associated with altered SC was poor quality of life. CONCLUSIONS: Social cognition impairment is already present in a significant percentage of early RRMS patients, namely ToM deficits. While cognitive ToM and FER appears to correlate with impaired cognitive results, affective ToM is likely independent of other cognitive functions.

2.
Mult Scler Relat Disord ; 63: 103845, 2022 Jul.
Article En | MEDLINE | ID: mdl-35594635

INTRODUCTION: Several neuroimmunological disorders have distinct phenotypes according to the age of onset, as in multiple sclerosis or myasthenia gravis. It is also described that late onset NMOSD (LONMOSD) has a different phenotype. OBJECTIVE: To describe the clinical/demographic characteristics of the LONMOSD and distinguish them from those with early onset (EONMOSD). METHODS: From a nationwide Portuguese NMOSD study we analyzed the clinical/demographic characteristics of the LONMOSD. RESULTS: From the 180 Portuguese patients 45 had disease onset after 50 years old, 80% were female. 23 had anti-AQP4 antibodies (51.1%), 13 anti-MOG antibodies (28.9%) and 9 were double seronegative (20.0%). The most common presenting phenotypes in LONMOSD were transverse myelitis (53.3%) and optic neuritis (26.7%), without difference from EONMOSD (p = 0.074). The mean EDSS for LONMOSD was 6.0 (SD=2.8), after a mean follow-up time of 4.58 (SD=4.47) years, which was significantly greater than the mean EDSS of EONMOSD (3.25, SD=1.80)(p = 0.022). Anti-AQP4 antibodies positive LONMOSD patients had increased disability compared to anti-MOG antibodies positive LONMOSD (p = 0.022). The survival analysis showed a reduced time to use a cane for LONMOSD, irrespective of serostatus (p<0.001). CONCLUSIONS: LONMOSD has increased disability and faster progression, despite no differences in the presenting clinical phenotype were seen in our cohort.


Myelitis, Transverse , Neuromyelitis Optica , Aquaporin 4 , Autoantibodies , Female , Humans , Male , Neuromyelitis Optica/epidemiology , Portugal/epidemiology
3.
Mult Scler Relat Disord ; 56: 103258, 2021 Nov.
Article En | MEDLINE | ID: mdl-34583213

INTRODUCTION: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits. OBJECTIVE: To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics. METHODS: This was a nationwide multicenter study. Twenty-four Portuguese adult and 3 neuropediatric centers following NMOSD patients were included. RESULTS: A total of 180 patients met the 2015 Wingerchuk NMOSD criteria, 77 were AQP4-antibody positive (Abs+), 67 MOG-Abs+, and 36 seronegative. Point prevalence on December 31, 2018 was 1.71/100,000 for NMOSD, 0.71/100,000 for AQP4-Abs+, 0.65/100,000 for MOG-Abs+, and 0.35/100,000 for seronegative NMOSD. A total of 44 new NMOSD cases were identified during the two-year study period (11 AQP4-Abs+, 27 MOG-Abs+, and 6 seronegative). The annual incidence rate in that period was 0.21/100,000 person-years for NMOSD, 0.05/100,000 for AQP4-Abs+, 0.13/100,000 for MOG-Abs+, and 0.03/100,000 for seronegative NMOSD. AQP4-Abs+ predominated in females and was associated with autoimmune disorders. Frequently presented with myelitis. Area postrema syndrome was exclusive of this subtype, and associated with higher morbidity/mortality than other forms of NMOSD. MOG-Ab+ more often presented with optic neuritis, required less immunosuppression, and had better outcome. CONCLUSION: Epidemiological/clinical NMOSD profiles in the Portuguese population are similar to other European countries.


Neuromyelitis Optica , Adult , Aquaporin 4 , Autoantibodies , Epidemiologic Studies , Female , Humans , Myelin-Oligodendrocyte Glycoprotein , Neuromyelitis Optica/epidemiology , Portugal/epidemiology
4.
Neurol Sci ; 42(10): 4163-4174, 2021 Oct.
Article En | MEDLINE | ID: mdl-33538913

BACKGROUND: This study aimed to validate a semi-quantitative composite score tool, "Headache Gauge" (HG), to monitor the treatment effect in primary headaches in everyday clinic practice, adjustable to any chosen timeframe. METHOD: A cohort validation study of HG was performed in primary headache patients, recovering their clinical data and patient-related outcome measures (PROMs) for headache (HIT-6, MIDAS, HURT), work impact (WPAIQ), quality-of-life (SF-12), and mood (STAI, ZUNG). HG score distribution, its relation to clinical variables, its internal consistency, and its convergent validity were determined. RESULTS: HG was plotted in 233 patients: 90.1% females, age average 37 years, 86% with migraine, 27% with chronic headaches, and 28% with medication overuse. HG ranged from 0.21 to 58.3 in this sample, higher in chronic headaches (HG 16) and medication overuse (HG 15). HG presented good concurrent validity, significantly correlating with HIT-6 (p < 0.0001), SF-12 (p = 0.001), WPAIQ (p < 0.0001), MIDAS (p < 0.0001), and HURT (p < 0.0001). Good sensitivity to change (p < 0.001) and moderate test-retest reliability (p = 0.001) were calculated after reassessment of 147 patients (63.1% of the initial sample). CONCLUSIONS: Headache Gauge is a clinical data-based outcome measure that conceptually translates the percentage of lost time to headache in any given timeframe. It relates to headache impact, therefore bearing the potential to be relevant in real-life clinical monitoring.


Headache Disorders , Migraine Disorders , Adult , Female , Headache/diagnosis , Headache/epidemiology , Headache/therapy , Headache Disorders/diagnosis , Headache Disorders/epidemiology , Headache Disorders/therapy , Humans , Male , Reproducibility of Results , Surveys and Questionnaires
5.
Mult Scler Relat Disord ; 50: 102832, 2021 May.
Article En | MEDLINE | ID: mdl-33596492

INTRODUCTION: Radiologically isolated syndrome (RIS) refers to the incidental discovery of white matter lesions suggestive of MS, on brain MRI, in asymptomatic patients. Recent studies suggest similar features of cognitive impairment between RIS and MS patients. Also, lower levels of health-related quality of life (QOL) and fatigue are reported in such patients. AIMS: characterize and compare the cognitive profile of a multicentric Portuguese cohort of RIS patients with a control group. METHODS: multicentric comparative study of a cohort of adult patients with RIS, and age and gender-matched controls followed in the headache outpatient clinic with prior MRI not fulfilling criteria for RIS diagnosis. We conducted interviews with participants, collected clinical data and applied the BICAMS battery and self-reported questionnaires (HADS, MFIS, MSQOL-54). RESULTS: we evaluated 31 patients with RIS (median age 46 years, IQR [(Dusankova et al., 2012-52], 72% women) and 19 control individuals (median age 32 years, IQR [(O'Jile et al., 2005-48], 71% women). Prevalence of cognitive impairment did not differ between groups (16% of the RIS and 10% of the controls, p=0.579). We found no differences between groups on the BICAMS tests, although the results of the California Verbal Learning Test (CVLT-II) score presented a trend to significance, with a lower value on the RIS group (53.9 vs. 59.3, p=0.066). There were no significant differences regarding fatigue, QOL, anxiety/depression scores. CONCLUSION: this is the first study on a Portuguese cohort of RIS patients assessing cognitive profile with BICAMS. A non-neglectable part of our cohort presented cognitive impairment. Our findings add to previous studies in suggesting that a more pronounced impairment of verbal memory and learning, evaluated by CVLT-II, may be present in RIS patients compared to controls. BICAMS should be assessed on future studies with larger cohorts.


Multiple Sclerosis , Quality of Life , Adult , Case-Control Studies , Cognition , Female , Humans , Male , Middle Aged , Neuropsychological Tests , Portugal/epidemiology
6.
BMJ Case Rep ; 14(1)2021 Jan 11.
Article En | MEDLINE | ID: mdl-33431522

Posterior reversible encephalopathy syndrome (PRES) is a neurological syndrome manifesting with acute focal signs, and concomitant neuroimaging findings of vasogenic oedema. It affects the parieto-occipital regions in a vast majority of cases, although atypical variants have been described comprising the brainstem, basal ganglia or spinal cord. We report the case of a 41-year-old woman, admitted for persistent headache and inferior altitudinal field defect in the right eye. She presented with severe, non-medicated, hypertension. Brain MRI showed findings compatible with atypical PRES, involving the brainstem and optic pathways. With antihypertensive therapy the headache remitted, although visual field remained and was interpreted in the context of a vascular aetiology-non-arteritic anterior ischaemic optic neuropathy. MRI was repeated 3 weeks later and showed almost complete reversal of the previous changes.


Brain Stem/diagnostic imaging , Optic Tract/diagnostic imaging , Posterior Leukoencephalopathy Syndrome/complications , Posterior Leukoencephalopathy Syndrome/diagnosis , Adult , Female , Humans , Magnetic Resonance Imaging , Posterior Leukoencephalopathy Syndrome/therapy
7.
Acta Med Port ; 34(9): 619-623, 2021 Aug 31.
Article Pt | MEDLINE | ID: mdl-33159724

Creutzfeldt-Jakob disease typically presents as rapidly progressive dementia. We describe the case of a 59-year-old male patient presenting with sudden onset of central facial palsy and dysarthria, followed by myoclonus of his left upper and lower limbs. Initial brain magnetic resonance showed hyperintensity of the right caudate and putamen on diffusion-weighted imaging and T2 sequences. Cerebrospinal fluid analysis showed increased protein count. The workup to investigate autoimmune, infectious and paraneoplastic causes was negative. Symptoms progressively worsened, with left hemiplegia, dysphagia, urinary incontinence, and, later, akinetic mutism. The follow-up brain magnetic resonance scan revealed hyperintensity of bilateral basal ganglia as well as cerebral cortical abnormalities on diffusion-weighted imaging. Electroencephalography showed periodic activity and tau protein levels in the cerebrospinal fluid were elevated. Genetic analysis showed mutation c-598G > A. The patient died four months later. We report a case of familial Creutzfeldt-Jakob disease with atypical clinical and radiological features, namely neurological focal signs with sudden onset, absence of significant cognitive impairment and unilateral radiological findings. With disease progression, characteristic clinical and radiological features led to the diagnosis.


A doença de Creutzfeldt-Jakob, manifesta-se habitualmente como demência rapidamente progressiva. Apresentamos um caso de um doente de 59 anos com quadro súbito de parésia facial central e disartria, seguindo-se mioclonias no hemicorpo esquerdo. A ressonância magnética crânio-encefálica inicial mostrava hipersinal T2 e difusão no caudado e putamen direitos e líquido cérebro-raquidiano com hiperproteinorraquia. A investigação para causas autoimunes, infecciosas e paraneoplásicas foi negativa. Verificou-se um agravamento progressivo nos meses seguintes para hemiplegia esquerda, disfagia, incontinência urinaria e posterior mutismo acinético. A ressonância magnética crânio-encefálica mostrou evolução para restrição à difusão dos gânglios da base bilateralmente e múltiplas áreas corticais; A eletroencefalografia mostrou atividade periódica e proteína Tau no líquido cérebro-raquidiano elevada. A análise genética revelou mutação c.598G > A. O falecimento ocorreu após quatro meses de doença. Reportamos um caso de doença de Creutzfeldt-Jakob familiar associada a mutação da proteína priónica, com apresentação clínica e radiológica atípicas, nomeadamente sinais focais com instalação súbita, ausência de defeito cognitivo significativo e alterações imagiológicas unilaterais. Na evolução, a clínica e imagem tornaram-se características, permitindo o diagnóstico.


Creutzfeldt-Jakob Syndrome , Brain/pathology , Creutzfeldt-Jakob Syndrome/cerebrospinal fluid , Creutzfeldt-Jakob Syndrome/complications , Creutzfeldt-Jakob Syndrome/diagnosis , Electroencephalography , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Rare Diseases/pathology
8.
Neurol Sci ; 42(5): 2039-2043, 2021 May.
Article En | MEDLINE | ID: mdl-33033897

OBJECTIVE: To assess risk factors of transient global amnesia (TGA) recurrence. METHODS: Retrospective study of a case series of patients with the diagnosis of TGA in our neurology center in the last 8 years, identified through an anonymized database search. TGA was identified by applying Hodges and Warlow criteria. RESULTS: Seventy patients (70% female, average age 64.8 ± 7.8 years) were enrolled; mean follow-up was 16.5 months. More frequent co-morbidities were hypertension (50%), depression (25.7%), diabetes mellitus (17.1%), migraine (15.7%), and cerebrovascular disease (8.6%). Average TGA episode duration was 4 h. Forty-one percent had an identifiable trigger-emotional stress (25.7%), physical effort (8.6%), and sexual intercourse (4.3%). Five patients (7.1%) had hippocampus restriction on diffusion weighted MRI. Nineteen patients (27.1%) had TGA recurrence. Patients with recurrent TGA were more likely to be female and have history of depression, shorter duration episode, and hippocampus hyperintensity on brain MRI. None of the other clinical characteristics and complementary studies were predictors of recurrence. In the multivariate analysis, history of depression was the only factor found to predict which patients had a higher risk of recurrence. CONCLUSION: We present a cohort of TGA patients with a considerable recurrent rate (27%), alerting for the possibility of recurrence of this clinical entity. TGA recurrence was associated with the following factors: female sex, depression, shorter episode duration, and hippocampal hyperintensity on brain MRI. History of depression was found to be the most important recurrence predictor in our study.


Amnesia, Transient Global , Aged , Amnesia , Amnesia, Transient Global/diagnostic imaging , Amnesia, Transient Global/epidemiology , Female , Hippocampus , Humans , Male , Middle Aged , Recurrence , Retrospective Studies , Risk Factors
9.
Acta Med Port ; 32(1): 81-85, 2019 Feb 01.
Article Pt | MEDLINE | ID: mdl-30753808

Acute disseminated encephalomyelitis is a rare inflammatory demyelinating multifocal disease of the central nervous system that typically occurs in children following vaccination or exanthematous viral infections and conveys an elevated risk of neurological sequelae unless promptly recognized and treated. We describe an adult case of acute disseminated encephalomyelitis following vaccination against Mumps, Measles and Rubella, presenting with fever and progressive neurological deficits which improved under systemic corticosteroid therapy. Considering the ongoing public debate regarding universal vaccination and the surge of previously controlled infectious diseases, we aim not only to underline the need for a rigorous assessment of vaccination safety on adult patients in order to prevent misguidance of public opinion, but also to alert clinicians for an early diagnosis of acute disseminated encephalomyelitis in these patients, the incidence of which we speculate may be rising.


A encefalomielite aguda disseminada é uma rara doença inflamatória desmielinizante multifocal do sistema nervoso central, tipicamente pediátrica, que ocorre após vacinação ou após infeções virais exantemáticas, com elevado potencial de sequelas neurológicas se não for identificada e tratada precocemente. Apresentamos um caso de encefalomielite aguda disseminada num adulto após vacinação contra sarampo, papeira e rubéola, que se apresentou com febre sem focalização e défices neurológicos progressivos, com resolução clínica sob corticoterapia sistémica. No contexto da polémica contemporânea em torno da vacinação universal e ressurgimento de surtos de doenças previamente controladas, pretendemos com este caso ilustrar a necessidade de caracterização epidemiológica rigorosa da segurança vacinal em adultos de forma a evitar a desinformação da população geral, e sensibilizar os clínicos para o reconhecimento precoce da encefalomielite aguda disseminada nesta faixa etária, cuja incidência prevemos que possa aumentar.


Adrenal Cortex Hormones/therapeutic use , Encephalomyelitis, Acute Disseminated/etiology , Measles-Mumps-Rubella Vaccine/adverse effects , Acute Disease , Adult , Encephalomyelitis, Acute Disseminated/diagnostic imaging , Encephalomyelitis, Acute Disseminated/drug therapy , Humans , Male , Measles-Mumps-Rubella Vaccine/administration & dosage
10.
Neurol Clin Pract ; 8(6): 492-500, 2018 Dec.
Article En | MEDLINE | ID: mdl-30588379

BACKGROUND: Fatigue is a frequent disabling symptom in multiple sclerosis (MS), but its pathophysiology remains incompletely understood. This study aimed to explore the underlying neural basis of fatigue in patients with MS. METHODS: We enrolled 60 consecutive patients with MS and 60 healthy controls (HC) matched on age, sex, and education. Fatigue was assessed using the Portuguese version of the Modified Fatigue Impact Scale (MFIS). All participants underwent 3T brain MRI (conventional and diffusion tensor imaging [DTI] sequences). White matter (WM) focal lesions were identified and T1/T2 lesion volumes were computed. Tract-based spatial statistics were applied for voxel-wise analysis of DTI metrics fractional anisotropy and mean diffusivity (MD) on normal-appearing WM (NAWM). Using Freesurfer software, total and regional volumes of cortical and subcortical gray matter (GM) were calculated. RESULTS: Compared to HC, patients with MS scored significantly higher on MFIS (33.8 ± 19.7 vs 16.5 ± 15.1, p < 0.001). MFIS scores were not significantly correlated with T1/T2 lesion volumes, total GM volume, or any regional volume of cortical and subcortical GM. Significant correlations were found between global scores of MFIS and MD increase of the NAWM skeleton, including corona radiata, internal capsule, external capsule, corticospinal tract, cingulum, corpus callosum, fornix, superior longitudinal fasciculus, superior fronto-occipital fasciculus, sagittal stratum, posterior thalamic radiation, cerebral peduncle, and uncinate fasciculus. CONCLUSIONS: In this study, fatigue was associated with widespread NAWM damage but not with lesion load or GM atrophy. Functional disconnection, caused by diffuse microstructural WM damage, might be the main neural basis of fatigue in MS.

11.
J Clin Neurosci ; 33: 73-78, 2016 Nov.
Article En | MEDLINE | ID: mdl-27542939

Treatment persistence in first-line injectable disease-modifying therapies (DMT) for relapsing-remitting multiple sclerosis (RRMS) is an important indicator of effectiveness. Identifying predictors of treatment discontinuation is important as there are other therapies currently available and a growing range of emerging drugs. We report a retrospective study of RRMS and clinically isolated syndrome patients followed in a University Hospital during a 13-year period with the objective of identifying predictors of treatment persistence. An evaluation of persistence on the first DMT, rates of DMT discontinuation, and reasons and predictors of discontinuation was performed. A total of 410 patients were included, 69% female, with mean disease duration of 37.8months, mean age of 34.2years and mean follow-up time of 6.1years. The first DMT was glatiramer acetate (GA) in 27.56% of patients, interferon (IFN) ß-1a intramuscular in 26.34%, IFNß-1b in 26.10%, IFNß-1a22 in 13.66% and IFNß-1a44 in 6.34%. Treatment was discontinued in 16.34% of patients after 1year of treatment and in 50.24% of patients in the total follow-up time, with a mean time for discontinuation of 39.80months. Higher baseline Expanded Disability Status Scale score was an independent predictor of treatment discontinuation (hazard ratio 1.35, p=0.002). After the first year, treatment persistence was 90.74% for IFNß-1a-IM, 88.46% for IFNß-1a44, 83.18% for IFNß-1b, 83.19% for GA and 69.64% for IFNß-1a22 (p=0.014). Lower frequency of administration was associated with higher persistence rates. The most common reason for treatment discontinuation was lack of efficacy in all DMT subgroups.


Multiple Sclerosis, Relapsing-Remitting/therapy , Adult , Cohort Studies , Disability Evaluation , Female , Follow-Up Studies , Forecasting , Glatiramer Acetate/therapeutic use , Humans , Interferon beta-1a/therapeutic use , Interferon beta-1b/therapeutic use , Male , Patient Compliance , Portugal , Retrospective Studies , Treatment Outcome
12.
Case Rep Med ; 2016: 9809017, 2016.
Article En | MEDLINE | ID: mdl-26981128

Spontaneous intracranial hypotension (SIH) is an important cause of new daily persistent headache. It is thought to be due to spontaneous spinal cerebrospinal fluid (CSF) leaks, which probably have a multifactorial etiology. The classic manifestation of SIH is an orthostatic headache, but other neurological symptoms may be present. An epidural blood patch is thought to be the most effective treatment, but a blind infusion may be ineffective. We describe the case of a young man who developed an acute severe headache, with pain worsening when assuming an upright posture and relief gained with recumbency. No history of previous headache, recent cranial or cervical trauma, or invasive procedures was reported. Magnetic resonance imaging showed pachymeningeal enhancement and other features consistent with SIH and pointed towards a cervical CSF leak site. After failure of conservative treatment, a targeted computer tomography-guided EBP was performed, with complete recovery.

14.
BMC Neurol ; 14: 237, 2014 Dec 11.
Article En | MEDLINE | ID: mdl-25494723

BACKGROUND: Several disorders may present with mononeuritis multiplex and the etiological diagnosis can be challenging. CASE PRESENTATION: We report a 42 year-old female who presented with severe lower limb neuropathic pain, asymmetric weakness and sensory impairment and was diagnosed with mononeuritis multiplex. Biopsy showed a granulomatous vasculitic process with eosinophils, scarce granulomata and axonal neuropathy and granulomatosis with poliangiitis was assumed. Steroids, cyclophosphamide, alemtuzumab, azathioprine, mycophenolate mofetil and rituximab were used, all with transient and insufficient response. Skin biopsy performed in a further exacerbation allowed sarcoidosis diagnosis. Infliximab and, later, adalimumab induced good clinical and laboratorial response, but neutralizing antibodies developed to both drugs, so etanercept was tried with good clinical response. CONCLUSIONS: To the best of our knowledge, this is the first report of sarcoidosis successfully treated with etanercept. This drug may be considered in refractory sarcoidosis after other TNF-α inhibitors failure, having the advantage of not being associated with neutralizing antibodies development.


Anti-Inflammatory Agents, Non-Steroidal/pharmacology , Etanercept/pharmacology , Mononeuropathies/drug therapy , Sarcoidosis/drug therapy , Adult , Anti-Inflammatory Agents, Non-Steroidal/administration & dosage , Etanercept/administration & dosage , Female , Humans , Mononeuropathies/etiology , Sarcoidosis/complications , Sarcoidosis/diagnosis
15.
Acta Med Port ; 27(1): 137-41, 2014.
Article En | MEDLINE | ID: mdl-24581205

Arachnoid cysts are benign congenital cerebrospinal fluid collections, usually asymptomatic and diagnosed incidentally in children or adolescents. They may become symptomatic after enlargement or complications, frequently presenting with symptoms of intracranial hypertension. We report an unusual case of progressive refractory headache in an adult patient due to an arachnoid cyst spontaneous rupture. Although clinical improvement occurred with conservative treatment, the subdural hygroma progressively enlarged and surgical treatment was ultimately needed. Spontaneous rupture is a very rare complication of arachnoid cysts. Accumulation of cerebrospinal fluid accumulation in the subdural space causes sustained intracranial hypertension that may be life-threatening and frequently requires surgical treatment. Patients with arachnoid cysts must be informed on their small vulnerability to cyst rupture and be aware that a sudden and severe headache, especially if starting after minor trauma or a Valsalva manoeuvre, always requires medical evaluation.


Os quistos aracnóides são colecções de líquido céfalo-raquidiano congénitas e benignas, geralmente assintomáticas e diagnosticadas incidentalmente em crianças ou adolescentes. Podem tornar-se sintomáticos após crescimento ou complicações, apresentando-se frequentemente com sintomas de hipertensão intracraniana. Reportamos um caso invulgar de cefaleia progressiva e refratária num doente adulto devido a rotura espontânea de quisto aracnóide. Apesar de melhoria clinica com tratamento conservador, verificou-se aumento progressivo de higroma subdural com necessidade de tratamento cirúrgico. A rotura espontânea é uma complicação muito rara dos quistos aracnóides. A colecção de líquidocéfalo-raquidiano no espaço subdural causa hipertensão intracraniana mantida potencialmente ameaçadora da vida, necessitando frequentemente tratamento cirúrgico. Doentes com quistos aracnóides devem ser informados da sua pequena vulnerabilidade para rotura do quisto e ter conhecimento que uma cefaleia súbita e violenta, especialmente se surgir após pequeno trauma ou manobra de Valsalva, necessita sempre avaliação médica.


Arachnoid Cysts , Adult , Arachnoid Cysts/complications , Arachnoid Cysts/diagnosis , Humans , Intracranial Hypertension/etiology , Male , Rupture, Spontaneous
16.
J Neurol Sci ; 336(1-2): 276-80, 2014 Jan 15.
Article En | MEDLINE | ID: mdl-24210076

Fatal insomnia (FI) is the first diagnosis to be considered by most neurologists when approaching a patient presenting with total insomnia followed by personality and cognitive changes, disturbance of alertness, autonomic hyperactivation and movement abnormalities. We report the case of a 30 year-old male patient who presented with total insomnia followed by episodes of psychomotor restlessness resembling anxiety attacks. Twenty days later, he developed refractory convulsive status epilepticus with admission to Intensive Care Unit. He progressed to a state of reduced alertness and responsiveness, presenting periods of agitation with abnormal dyskinetic movements, periods of autonomic instability and central hypoventilation. Workup revealed antibodies against N-methyl-d-aspartate receptor (NMDAR). Immunotherapy treatment led to a very significant improvement with the patient presenting only slight frontal lobe dysfunction after one year of recovery. To the best of our knowledge this is the first report of a patient with anti-NMDAR encephalitis first presenting with total insomnia. Our aim is to alert that anti-NMDAR encephalitis must be considered in the differential diagnosis of FI, especially in sporadic cases. Distinguishing the two conditions is very important as, contrarily to the fatal disclosure of FI, anti-NMDAR encephalitis is potentially reversible with adequate treatment even after severe and prolonged disease.


Anti-N-Methyl-D-Aspartate Receptor Encephalitis/complications , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/diagnosis , Sleep Initiation and Maintenance Disorders/diagnosis , Sleep Initiation and Maintenance Disorders/etiology , Adult , Diagnosis, Differential , Humans , Male
17.
J Clin Neurosci ; 21(4): 583-6, 2014 Apr.
Article En | MEDLINE | ID: mdl-24231563

When assessing and managing a patient with optic neuritis (ON), the risk of future development of multiple sclerosis (MS) is an important issue, as this can be the first presentation of the disease. Although the presence of lesions on baseline brain MRI is the strongest predictor of MS conversion, some patients with normal imaging also develop MS. We aimed to estimate MS risk in patients with ON and a normal baseline MRI and identify individuals with higher risk of conversion. We performed a retrospective study including patients with idiopathic ON and normal baseline brain MRI who presented to our hospital over an 8 year period. Of a total of 42 patients, 10 converted to MS: five during the first follow-up year, seven during the first 2 years and all of the patients within the first 5 years, with a 5 year MS conversion rate of 23.8%. MS conversion rates were significantly higher in patients with history of previous symptoms suggestive of demyelination (p=0.002), cerebrospinal fluid oligoclonal bands unmatched in serum (p=0.004) and incomplete visual acuity recovery (≤6/12) after 1 year (p=0.002). Lower conversion rates were found in patients with optic disc edema (p=0.022). According to these results, a significant proportion of patients with idiopathic ON and a normal baseline brain MRI will develop MS, with a higher risk during the first 5 years. Therefore, in the presence of factors in favor of MS conversion, close follow-up, including semestral medical consultations and yearly brain MRI, can be recommended. Early immunomodulatory treatment may be individually considered as it can delay conversion and reduce new lesion development rate.


Brain/pathology , Multiple Sclerosis/diagnosis , Multiple Sclerosis/pathology , Optic Neuritis/pathology , Adolescent , Adult , Disease Progression , Female , Follow-Up Studies , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Multiple Sclerosis/epidemiology , Multiple Sclerosis/physiopathology , Optic Neuritis/epidemiology , Optic Neuritis/physiopathology , Optic Neuritis/therapy , Prognosis , Retrospective Studies , Risk , Risk Factors , Visual Acuity , Young Adult
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