Late onset neuromyelitis optica spectrum disorders (LONMOSD) from a nationwide Portuguese study: Anti-AQP4 positive, anti-MOG positive and seronegative subgroups.

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.

[Creutzfeldt-Jakob Disease: Atypical Presentation of a Very Rare Disease]. / Doença de Creutzfeldt-Jakob: Apresentação Atípica de uma Doença Muito Rara.

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.

Mononeuritis multiplex as the first presentation of refractory sarcoidosis responsive to etanercept.

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.

Arachnoid cyst spontaneous rupture.

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.

Anti-NMDA receptor encephalitis presenting with total insomnia--a case report.

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.