Browsing by Author "Cruz, S"
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- Apresentação neurológica rara de endocardite infecciosaPublication . Parreira, E; Cruz, S; Loureiro, J; Faustino, M
- Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.Publication . Cruz, S; Figueroa-Bonaparte, S; Gallardo, E; de Becdelièvre, A; Gartioux, C; Allamand, V; Piñol, P; Garcia, MA; Jiménez-Mallebriera, C; Llauger, J; González-Rodríguez, L; Cortes-Vicente, E; Illa, I; Díaz-Manera, JThe classical phenotypes of collagen VI-associated myopathies are well described. Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy. Our series highlights the existence of mild presentations of this disorder that progresses only slightly and can easily be overlooked. Analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation. Muscle MRI is extremely useful as it shows a pathognomonic pattern in most patients, especially those with some degree of muscle weakness.
- A Case Report of Nonvasculitic Autoimmune Inflammatory Meningoencephalitis with Sensory Ganglionopathy: A Rare Presentation of Sjögren SyndromePublication . Peres, J; Cruz, S; Oliveira, R; Santos, L; Herrero Valverde, AA 68-year-old Caucasian female was admitted to the emergency department with a progressive history of behavioural symptoms and anxiety followed by visual and auditory hallucinations, forgetfulness, and impaired gait in the previous 3 months. On examination she was psychotic and had a postural and rest tremor of the upper limbs, cogwheel rigidity of the four limbs, retropulsion on standing position, and inability to walk. During the following 2 weeks she developed xerostomia and unilateral parotiditis that improved with steroids. A simultaneous improvement of the cognitive abilities allowed for the detection of sensory ataxia of the lower limbs. Sensory ganglionopathy was then detected with electrophysiological studies. A diagnosis of Sjögren syndrome was suspected and confirmed by salivary gland scintigraphy, Schirmer's test, and submaxillary gland biopsy. We report a case of Sjögren syndrome associated with central and peripheral nervous system involvement, without sicca symptoms preceding the neurological clinical picture. The coexistence of ganglionopathy and a favourable response to immunosuppression are key features that can lead to the correct diagnosis in cases with atypical CNS symptoms, mimicking a rapidly progressive dementia.
- Clinical Reasoning: A 71-year-old woman with subacute progressive distal weakness and paresthesia after vaccination.Publication . Cruz, S; Schaefer, A; Joshi, A; Baker, M
- Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.Publication . Cruz, S; Taipa, R; Nogueira, C; Pereira, C; Almeida, S; Neiva, R; Geraldes, T; Guimarães, A; Melo-Pires, M; Vilarinho, LINTRODUCTION: Mitochondrial disorders display remarkable genetic and phenotypic heterogeneity. METHODS: We performed a retrospective analysis of the clinical, histological, biochemical, and genetic features of 65 patients with molecular diagnoses of mitochondrial disorders. RESULTS: The most common genetic diagnosis was a single large-scale mitochondrial DNA (mtDNA) deletion (41.5%), and the most frequent clinical phenotype was chronic progressive external ophthalmoplegia (CPEO). It occurred in 41.5% of all patients, primarily in those with mtDNA deletions. Histological signs of mitochondrial dysfunction were found in 73.8% of patients, and respiratory chain enzyme assay (RCEA) abnormalities were detected in 51.9%. CONCLUSIONS: This study confirms the high relative frequency of single large-scale deletions among mitochondrial disorders as well as its particular association with CPEO. Muscle histology seems to be particularly useful in older patients and those with mtDNA deletions, whereas RCEA might be more helpful in young children or individuals with mtDNA depletion
- Disección de la arteria vertebral asociada a síndrome MURCSPublication . Santos, M; Cruz, S; Casimiro, C; Biscoito, M; Costa, MLa asociación MURCS (OMIM 60176), también conocida como síndrome de Mayer-RokitanskyKüster-Hauser de tipo II, constituye una rara malformación que afecta aproximadamente a una de cada 50.000 mujeres [1,2]. Consiste en la combinación de aplasia de los conductos de Müller, aplasia o ectopia renal unilateral y displasia de los somitas cervicodorsales, relacionado con deformidades vertebrales del espectro Klippel-Feil, y asociado o no a malformaciones occipitoatloideas [2]. La disección de la arteria vertebral es una causa poco frecuente de ictus, que puede asociarse a anomalías del desarrollo craneocervical [3]. Se describe un caso de ictus causado por disección de la arteria vertebral en una paciente con asociación MURCS.
- DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine.Publication . Santos, M; Cruz, S; Peres, J; Santos, L; Tavares, P; Basto, JP; Salgado, V; Herrero Valverde, ADOK7 congenital myasthenic syndrome (DOK7-CMS) generally presents early in life and is treated with salbutamol or ephedrine. This report describes an atypical case of a 39-year-old woman who presented with proximal upper limb weakness in the third trimester of pregnancy and was initially diagnosed with seronegative myasthenia gravis. Dramatic clinical worsening under pyridostigmine and further inefficacy of steroids, intravenous human immunoglobulin (IVIG) and plasma exchange (PLEX) led to the presumptive diagnosis of a CMS. Initially, a slow-channel CMS was regarded as more probable due to prominent finger extension weakness. Accordingly, fluoxetine was started and a lengthy improvement was seen. Clinical deterioration occurred after fluoxetine withdrawal, when a c.1124_1127dup homozygous mutation was detected in DOK7 gene. Afterwards, salbutamol was started and the patient became asymptomatic. This case highlights the importance of considering CMS before an adult-onset myasthenic syndrome and suggests a benefit from fluoxetine not previously reported in DOK7-CMS.
- Dyschromatopsia in Multiple Sclerosis Patients: A Marker of Subclinical Involvement?Publication . Felgueiras, H; Parra, J; Cruz, S; Pereira, P; Santos, A; Rua, A; Meira, D; Fonseca, P; Pedrosa, C; Cardoso, J; Almeida, C; Araújo, M; Santos, EBACKGROUND: In multiple sclerosis (MS), even in the absence of a clinical episode of optic neuritis (ON), the optic nerve and retinal nerve fiber layer (RNFL) may be damaged leading to dyschromatopsia. Subclinical dyschromatopsia has been described in MS associated with lower motor and cognitive performances. OBJECTIVES: To set the prevalence of dyschromatopsia in eyes of MS patients without a history of ON, to compare its prevalence in patients with and without ON history, and to explore the association between dyschromatopsia and disease duration, average peripapillary RNFL thickness, macular volume, and cognitive and motor performances. METHODS: An observational cross-sectional study was conducted at multiple medical centers. Data were collected after single neurological and ophthalmological evaluations. Dyschromatopsia was defined by the presence of at least 1 error using Hardy-Rand-Rittler plates. RESULTS: In our population of 125 patients, 79 patients (63.2%) never had ON and 35 (28.8%) had unilateral ON. The prevalence of dyschromatopsia in eyes of patients without ON was 25.7%. Patients with dyschromatopsia had a statistically significant lower RNFL thickness (P = 0.004 and P = 0.040, right and left eyes, respectively) and worse performance in symbol digit modalities test (P = 0.012). No differences were found in macular volume or motor function tasks. CONCLUSIONS: Dyschromatopsia occurs frequently in MS patients. It may be associated with a worse disease status and possibly serve as a marker for the detection of subclinical disease progression since it was detected even in the absence of ON. It correlated with thinner peripapillary RNFL thickness and inferior cognitive performance.
- Familial aggregation of cluster headachePublication . Cruz, S; Lemos, C; Monteiro, JMSeveral studies suggest a strong familial aggregation for cluster headache (CH), but so far none of them have included subjects with probable cluster headache (PCH) in accordance with the International Classification of Headache Disorders. OBJECTIVE: To identify cases of probable cluster headache and to assess the familial aggregation of cluster headache by including these subjects. METHOD: Thirty-six patients attending a headache consultation and diagnosed with trigeminal autonomic headaches were subjected to a questionnaire-based interview. A telephone interview was also applied to all the relatives who were pointed out as possibly affected as well as to some of the remaining relatives. RESULTS: Twenty-four probands fulfilled the criteria for CH or PCH; they had 142 first-degree relatives, of whom five were found to have CH or PCH, including one case of CH sine headache. The risk for first-degree relatives was observed to be increased by 35- to 46-fold. CONCLUSION: Our results suggest a familial aggregation of cluster headache in the Portuguese population.
- Miopatias genéticas com apresentação na adolescência ou idadde adulta: diagnóstico na prática clínicaPublication . Cruz, SAs miopatias genéticas são um grupo complexo de doenças neuromusculares. A crescente descrição de novas alterações genéticas e de novos genes candidatos diminui a validade das designações nosológicas prévias baseadas em fenótipos clínicos concretos promovendo, ao invés, a sua substituição por termos que identificam a disfunção de determinadas proteínas constituintes das fibras musculares e que frequentemente correspondem a espectros fenotípicos extensos. O reconhecimento de fenótipos está portanto a tornar-se progressivamente mais complexo, o que justifica um esforço de sistematização dos achados clínicos que inclua também elementos fornecidos por exames auxiliares de diagnóstico. Este artigo propõe um conjunto de fluxogramas diagnósticos que têm como ponto de partida quatro padrões clínicos definidos: fraqueza muscular persistente, depois subdividido em quatro padrões topográficos (cinturas, distal, escápulo-peroneal, e ptose com ou sem oftalmoparesia): contracturas articulares precoces e proeminentes: intolerância ao exercício com ou sem episódios de rabdomiólise: miotonia clinica e/ ou fraqueza muscular episódica. Excluem-se desta discussão as miopatias adquiridas e concentra-se a análise sobre as entidades que podem apresentar-se na prática clínica da Neurologia durante a adolescência ou na idade adulta. Estas propostas representam uma tentativa de sistematização do conhecimento actual sobre a apresentação clínica das miopatias genéticas e pretende-se que contribuam para a optimização do percurso diagnóstico e da gestão dos recursos disponíveis .