Introduction Aicardi‐Goutières syndrome (AGS) is a genetic disease presenting with early‐onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy. Methods AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed. Results A total of 5 patients and 1 asymptomatic carrier from 3 different families were identified. All had a homozygous c.529G>A,p.A177T mutation in exon 7 of the RNASEH2B gene. Two patients had neonatal‐onset AGS, 2 had later onset forms, and 1 was slightly symptomatic. All were diagnosed in adulthood after chilblains, and basal ganglia calcifications were identified on computed tomography scans. Discussion AGS patients have marked phenotypic variability regarding psychomotor development and morbidity. The present series included 1 asymptomatic carrier and 1 slightly symptomatic patient, both with homozygous RNASEH2B mutations. Chilblains and basal ganglia calcifications identified on computed tomography scan (but not on magnetic resonance imaging) are important clues for late diagnosis.
(1):51-55 RESUMOIntrodução: A disfunção do sistema nervoso autónomo é comum na esclerose múltipla e deveria ser explorada na avaliação de rotina. O questionário Composite Autonomic Symptom Score foi validado como instrumento de auto-avaliação de sintomas autonómicos. Objetivos: Determinar a frequência de sintomas autonómicos em doentes com esclerose múltipla através de uma versão portuguesa do Composite Autonomic Symptom Score; comparar os resultados do questionário entre um grupo de doentes e um grupo controlo; avaliar a viabilidade da aplicação deste questionário em doentes portugueses. Material e Métodos: Neste estudo caso-controlo utilizou-se uma tradução portuguesa do questionário para determinar a frequência de sintomas autonómicos em doentes com esclerose múltipla. Resultados: Incluíram-se 103 doentes com esclerose múltipla surto-remissão -idade média 41 anos, mediana de duração da doença 6 anos, EDSS médio 1 -e 80 indivíduos saudáveis. Dos doentes, 97,1% tinham alterações da função autonómica, com significado estatístico nos domínios intolerância ortostática e gastrointestinal. Não encontramos diferenças estatísticas entre doentes (41,7%) sem fatores de confundimento que podiam interferir com a função autonómica (i.e. comorbilidades ou medicações) e o grupo controlo. Discussão: Os resultados obtidos podem estar relacionados com a curta duração de doença, idade jovem e baixo grau de incapacidade dos doentes sem fatores de confundimento. O questionário utilizado não foi desenhado especificamente para a esclerose múltipla e pode não ser tão sensível para sintomas autonómicos mais precoces como para manifestações mais graves da doença. Conclusões: Outros estudos serão necessários para obter resultados mais robustos, validar este questionário e avaliar a sua aplicação nos doentes portugueses. Palavras-chave: Esclerose Múltipla; Portugal; Questionários; Sistema Nervoso Autónomo. ABSTRACT Background:Autonomic nervous system dysfunction is commonly seen in multiple sclerosis patients and should be explored in the routine evaluation. Composite Autonomic Symptom Score questionnaire was validated as a self-assessment instrument of autonomic symptoms. Objectives: Determine the frequency of autonomic symptoms in multiple sclerosis patients through a Portuguese version of Composite Autonomic Symptom Score; compare questionnaire results between patients and a control group; assess the feasibility of this questionnaire application in multiple sclerosis Portuguese patients. Material and Methods:This case-control study used a Portuguese translated version of Composite Autonomic Symptom Score to determine the frequency of autonomic symptoms in multiple sclerosis patients. Results: One-hundred and three relapsing-remitting multiple sclerosis patients -median age 41 years, median disease duration 6 years, median EDSS score 1 -and 80 healthy subjects were included. Alterations in autonomic function were reported in 97.1% of the cases, with statistical significance in orthostatic intolerance and gastrointestinal domain scores....
between sessions. There was only one adverse event possibly related to ARTI (ie, acute sciatica), which was reported to the review board. Adherence was high, which can be attributed to the challenging and motivating nature of the intervention. It is not clear to us why Nonnekes et al attribute the differences we obtained in the New Freezing of Gait Questionnaire (NFOGQ) to measurement error, as our pre-post data had an intraclass correlation coefficient = 0.83, and pre-test mean (sd) values are within the range presented in the literature 5 and are very consistent between groups (Table 3). Our paper showed within-and between-group statistical differences in NFOGQ score (primary outcome-Table 3) (−4.4, P < 0.0001 and −4.8, P = 0.069, respectively). The paper by Hulzinga and colleagues 4 was not available when our study was designed and registered on June 1, 2018. We remain confident that ARTI improves FOG, although not to the 9.95 points suggested by Hulzinga and colleagues. 4 It is possible that FOG ratio has higher sensitivity than NFOGQ to detect changes in FOG severity, but the benefits of ARTI on FOG ratio do need replication. We also acknowledge that the "FOG severity" section was misleading as NFOGQ and FOG ratio were both inadvertently presented as primary outcomes. We do not understand the criticism about inconsistences between registered and reported outcomes. NFOGQ and 18 secondary outcomes are listed in the trial registration. In this paper, 6 we reported the primary and specific secondary outcomes directly associated with our FOG-related hypotheses (motor symptoms, anticipatory postural adjustments, cognitive inhibition, quality of life, and locomotor-area brain activation). We did not consider baseline differences, as mixed-model assumptions were not violated. We have now performed an analysis on the difference in change score (NFOGQ) over 3 months (-0.3 [control] vs.-4.4 [ARTI]), and results were also significant, P < 0.001. Finally, we made a mistake when updating the number of participants in the trial. Otherwise, the Consort figure is accurate. In summary, we are confident that ARTI is safe when administered by trained, experienced, rehabilitation professionals in a one-to-one training program and should be used as no other treatment shows comparable results, although larger trials are needed to confirm our findings.
Introduction: Spontaneous intracranial hypotension is a secondary cause of headache caused by suspected cerebrospinal fluid leaks. It is associated with vascular changes that may predispose to superficial siderosis. When treated with an epidural blood patch, rebound intracranial hypertension may ensue. Case Report: A 55-year-old man presented with orthostatic headaches responsive to rest and hydration. Brain magnetic resonance revealed subdural collections, consistent with intracranial hypotension. Three weeks later, the patient experienced sudden severe holocranial headache and spontaneous subarachnoid hemorrhage was found. This resulted in rebound intracranial hypertension with bilateral papilledema and sixth-nerve palsy, which completely resolved with acetazolamide. Discussion: Spontaneous intracranial hypotension may predispose to subarachnoid hemorrhage through vascular compensatory changes. Blood in subarachnoid space may seal the hidden cerebrospinal fluid leak or trigger an inflammatory reaction, leading to rebound intracranial hypertension, a well-known epidural blood patch complication.
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