Browsing by Author "Fineza, I."
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- Caso Neurológico: Síndrome de JoubertPublication . Oliveira, D.; Andrade, I.; Fineza, I.; Saraiva, J.; Andrade, N.; Moreira, N.
- Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.Publication . Barbot, C.; Coutinho, P.; Chorão, R.; Ferreira, C.; Barros, J.; Fineza, I.; Dias, K.; Monteiro, J.; Guimarães, A.; Mendonça, P.; Moreira, M.; Sequeiros, J.Abstract BACKGROUND: The recessive ataxias are a heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia associated with a number of different neurologic, ophthalmologic, or general signs. They are often difficult to classify in clinical terms, except for Friedreich ataxia, ataxia-telangiectasia, and a relatively small group of rare conditions for which the molecular basis has already been defined. OBJECTIVES: To study the clinical presentation and to define diagnostic criteria in a group of Portuguese patients with ataxia and ocular apraxia, an autosomal recessive form without the essential clinical and laboratory features of ataxia-telangiectasia. PATIENTS AND METHODS: We reviewed 22 patients in 11 kindreds, identified through a systematic survey of hereditary ataxias being conducted in Portugal. RESULTS: Age at onset ranged from 1 to 15 years, with a mean of 4.7 years. The duration of symptoms at the time of last examination varied from 5 to 58 years. All patients presented with progressive cerebellar ataxia, the characteristic ocular apraxia, and a peripheral neuropathy. Associated neurologic signs included dystonia, scoliosis, and pes cavus. Magnetic resonance imaging was performed in 16 patients, all of whom showed cerebellar atrophy. CONCLUSIONS: Ataxia with ocular apraxia may be more frequent than postulated before, and may be identified clinically using the following criteria: (1) autosomal recessive transmission; (2) early onset (for most patients in early childhood); (3) combination of cerebellar ataxia, ocular apraxia, and early areflexia, with later appearance of the full picture of peripheral neuropathy; (4) absence of mental retardation, telangiectasia, and immunodeficiency; and (5) the possibility of a long survival, although with severe motor handicap.
- Síndrome de Miller Fisher numa criançaPublication . Gomes, D.; Leite, F.; Andrade, N.; Vasconcelos, M.; Robalo, C.; Fineza, I.Introdução: O síndrome de Miller Fisher, variante do síndrome de Guillain-Barré, é uma doença desmielinizante inflamatória aguda, que é rara em idade pediátrica. O seu diagnóstico é baseado na tríade oftalmoplegia, ataxia e arreflexia. Em cerca de metade dos casos está descrita uma intercorrência infecciosa precedendo os sintomas neurológicos em cinco a dez dias. Caso clínico: Os autores relatam o caso de uma criança de cinco anos de idade com disartria, ataxia e oftalmoplegia após episódio de gastroenterite aguda na semana prévia ao início da sintomatologia. À observação apresentava disartria, parésia bilateral do VI par, fraqueza muscular distal (de predomínio nos membros direitos) com ausência dos reflexos osteotendinosos aquilianos. A investigação analítica e imagiológica inicial não revelou alterações. O resultado do electromiografia foi compatível com poliradiculoneuropatia subaguda. O diagnóstico de síndrome Miller Fisher foi efectuado após exclusão de outras etiologias. A evolução clínica foi favorável, sem insuficiência respiratória ou outras complicações, com melhoria gradual dos défices neurológicos. Houve recuperação da ataxia ao fim de quatro semanas e da oftalmoplegia três meses após o diagnóstico. Conclusões: O síndrome Miller Fisher é extremamente raro em idade pediátrica e constitui um desafi o diagnóstico neste grupo etário. O prognóstico é habitualmente favorável. A propósito deste caso são discutidos os principais diagnósticos diferenciais. ABSTRACT Background: Miller Fisher syndrome, a variant of Guillain-Barré syndrome, is an acute inflammatory demyelinating disease that is rare in children. The diagnosis is based on the triad of ophthalmoplegia, ataxia and areflexia. In about half of the cases there is an infectious complication preceding neurologic symptoms in five to ten days. Case report: We describe the case of a five year-old boy who presented with a three-day history of diplopia, dysarthria and gait disturbance following an acute gastroenteritis. On examination he was found to have ataxia, areflexia and ophthalmoplegia. The laboratorial and imaging investigations were normal. The results of electromyogram were consistent with subacute polyradiculoneuropathy. The diagnosis of Miller Fisher syndrome was made after the exclusion of other conditions. The clinical outcome was favorable without respiratory failure or other complications, with gradual improvement of neurological deficits. Ataxia was restored in four weeks and ophthalmoplegia improved three months later. Conclusions: Miller Fisher syndrome is extremely rare in children and is a diagnostic challenge at those ages. Outcome is usually good. This report outlines the frequency of Miller Fisher syndrome and lists the differential diagnoses that should be considered.