Browsing by Author "Garrido, C."
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- Cefalea racimos en una niña de 3 añosPublication . Garrido, C.; Tuna, A.; Ramo, S.; Temudo, T.Summary. Introduction. Cluster headache is a rare disorder in childhood. We identified, in the literature, 64 cases of cluster headache starting at or before 18 years (only 17 of them began before 10 years old). All patients met the criteria of the International Headache Society. Russell et al demonstrated recently that the cluster headache is an inherited disorder in some families. They conclude that the gene is present in 3 to 4% of males and 7 to 10% of females with cluster headache and that it has an autossomal dominant transmission. Clinical case. The authors report the clinical case of a five-year-old child with cluster headache starting at three years. This paper reviews the differential diagnosis and the treatment of cluster headache
- D-bifunctional protein deficiency – a cause of neonatal onset seizures and hypotoniaPublication . Nascimento, J.; Mota, C.; Lacerda, L.; Pacheco, S.; Chorão, R.; Martins, E.; Garrido, C.Background Peroxisomal disorders are classified in two major groups: (1) Peroxisome Biogenesis Disorders and (2) single Peroxisomal Enzyme/Transporter Deficiencies. D-bifunctional protein deficiency (DBP; OMIM #261515) included in this last group of rare diseases leads to an impaired peroxisomal beta-oxidation. D-bifunctional protein deficiencies are classified in four types based on the degree of activity of the 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase protein units. Case report/Result The authors present the first portuguese reported type II DBP deficiency patient, whose neonatal clinical picture is indistinguishable from a Zellweger spectrum disease. The clinical features and the neuroimaging findings of polymicrogyria raised suspicion of the diagnosis. After biochemical analysis, DBP deficiency was confirmed with the identification of p.Asn457Tyr (N457Y) mutation, present in homozygosity in HSD17B4 gene. Parents were found to be carriers of the mutated allele, confirming the patient homozygosity status and allowing prenatal diagnosis to future pregnancies. Conclusion D-bifunctional protein deficiency is a rare and severe disease and final diagnosis can only be accomplished after HSD17B4 gene sequencing. Treatment is generally of supportive nature, aimed at improving nutrition and growth, controlling the central nervous system symptoms and limiting the eventual progression of liver disease.
- Enfermedad de Schilder: dos nuevos casosPublication . Garrido, C.; Levy-Gomes, A.; Teixeira, J.; Temudo, T.Summary. Introduction. Schilder’s disease, or diffuse myelinoclastic sclerosis, is an infrequent disease that presents clinically as a pseudotumoural demyelinating lesion, which makes its diagnosis more complicated as it can be mistaken for a tumour or an abscess. Case reports. We examine the case of a male who was healthy up to the age of 8 years, when symptoms of a left hemiparesis appeared with a subacute onset and which were associated to symptoms of intracranial hypertension. A brain CAT scan showed a hypodense lesion in the right temporoparietal region, and the hypothesis of a tumoural lesion (astrocytoma) was suggested. Treatment was started with dexamethasone and furosemide, and a complete regression of the symptoms and a considerable decrease in the cerebral lesion were observed. The second case is that of a female adolescent who, at the age of 11, developed a clinical picture of subacute onset of left hemiplegia. A brain CAT scan revealed hypodense lesions with ring-shaped contrast enhancement. In view of the histological diagnosis of an astrocytoma, radiotherapy and corticotherapy were started. After two months’ treatment, a sharp involution of the lesions was observed, which led to the acceptance of the diagnostic hypothesis of Schilder’s disease. Both children presented recurrence of the lesions three years and nine months, in the first and second case respectively, after the first episode. Treatment with corticoid therapy was started with good clinical and radiological responses. Conclusions. In the presence of a neurological deficit with a subacute onset, associated to a brain image showing a ‘tumoural’ lesion containing an important amount of oedema and little mass effect, diagnoses other than that of a brain tumour must be taken into account. It thus becomes possible to avoid invasive forms of treatment, such as surgical resection, which entail a number of sequelae.
- Infecção pelo vírus Epstein Barr e hepatitePublication . Moreira, E.; Machado, Â.; Machado, L.; Xavier, C.; Monteiro, C.; Cunha, J.; Garrido, C.Introdução: A infecção pelo vírus Epstein Barr (VEB) tem uma prevalência elevada sendo mais de 90% da população mundial seropositiva. A maioria das infecções primárias pelo VEB é subclínica. As complicações agudas são raras mas potencialmente letais. Caso clínico: Criança do sexo feminino com nove anos admitida por febre elevada com 13 dias de evolução, dor abdominal e odinofagia. Os exames auxiliares de diagnósticos foram compatíveis com hepatite vírica aguda com valores muito aumentados de transaminases. O diagnóstico de infecção pelo VEB foi confirmado pela presença de anticorpos heterófilos e marcadores serológicos. Conclusão: Na infecção pelo VEB a lesão hepática, apesar de frequente, é habitualmente insignificante, com aumento leve e auto-limitado das transaminases, sendo raros os casos de hepatite clinicamente relevante. Os autores descrevem este caso pela inesperada gravidade das alterações hepáticas. ABSTRACT Introduction: Epstein Barr virus (VEB) infection is very prevalent with more than 90% of adults worldwide seropositive. The majority of primary VEB infections are subclinical. Acute complications are very rare but can be fatal. Case report: A nine-year-old girl was admitted with fever for 13 days, abdominal pain and sore throat. Laboratory results were consistent with an acute viral hepatitis with markedly elevated transaminase levels. The diagnosis of acute VEB infection was confirmed by the positive heterophilic antibody monospot assay and serological markers. Conclusion: Although common, liver disease is usually mild with transient elevation of serum aminotransferases, and cases of severe hepatitis are rare. The authors report this case due to the unexpected severity of liver disease.
- Infecção por H1N1 num Serviço de PediatriaPublication . Magalhães, J.; Pinho, L.; Mendes, C.; Dias, A.; Zilhão, C.; Garrido, C.; Pinto, S.; Reis, M.G.; Guedes, M.Introdução: A infecção por vírus influenza A H1N1 constituiu a primeira pandemia deste século. Para reduzir a propagação, foram enfatizadas medidas de protecção individual e atendimento e internamento em áreas específicas, com isolamento de gotícula. Objectivos: Avaliar a importância da área de isolamento para casos de suspeita de infecção por H1N1 num Serviço de Pediatria. Caracterização da infecção nos doentes internados. Material e métodos: Consulta do processo clínico, com avaliação segundo parâmetros definidos pela Direcção Geral de Saúde. Tratamento de dados em Microsoft Excel 2007. Resultados: A área de isolamento teve oito camas, com 36% de ocupação. Dos 28 doentes internados, 82% tinham indicação para investigação, positiva em 54%. Foi feita pesquisa a 25 doentes fora do isolamento, positiva em 12%. Não ocorreu infecção nosocomial. Houve 23 casos, 74% de 16 de Novembro a 6 de Dezembro de 2009. A idade variou entre seis semanas e 16 anos, com mediana de um ano. A febre foi constante, tosse, rinorreia e vómitos foram frequentes. Os motivos de internamento foram febre em pequeno lactente, intolerância oral e hipoxemia. A terapêutica antiviral foi instituída em 13 doentes, com uma resistência. Em sete dos casos ocorreram complicações: pneumonia bacteriana provável (cinco), convulsão febril e abcessos esplénicos. Conclusões: As medidas foram eficazes. A área foi sobredimensionada. Relativamente à pandemia, existem essencialmente dados de organizações governamentais. Parece importante confrontar resultados para definir estratégias para uma futura epidemia. ABSTRACT Introduction: The influenza A H1N1 infection was the first pandemic in this century. To reduce the transmission, personal protection measures were emphasized and clinical observation and impatient care took place in specific areas, with respiratory droplet isolation. Objectives: To evaluate the importance of an isolation area for children admitted to a pediatic ward with suspected H1N1 infection. To characterize of the infection in hospitalized patients. Material and methods: Clinical files’ review. Evaluation according to parameters set by National Health Authority review using Microsoft Excel 2007. Results: The isolation area had eight beds, and 36% occupancy. Of 28 inpatients, 82% met criteria for investigation, positive in 54%. Investigation was done on 25 patients out of isolation, positive in 12%. Nosocomial infection did not occur. There were 23 cases, age ranged from six weeks to 16 years, 74% from November 16th to December 6th. Fever was always present, cough, coryza and vomiting were common. The reasons for hospitalization were fever in small infants, oral intolerance and hypoxemia. The antiviral therapy was instituted in 13 patients, with one resistance. Seven of the patients with H1N1 infection had complications: probable bacterial pneumonia (five), febrile convulsions and splenic abscesses. Conclusions: The protective measures were effective. The area was oversized. With regard to the pandemic, there is basically data from government organizations. It seems important to compare results to define strategies for a future epidemic.
- Paralisia facial periférica - diagnóstico, tratamento e orientaçãoPublication . Correia, T.; Sampaio, M.J.; Almeida, R.; Garrido, C.A paralisia facial periférica (PFP) é frequente em idade pediátrica. Inerente à sua designação existe um conceito anatómico que pressupõe a localização da lesão distalmente aos núcleos do sétimo nervo craniano. Contudo, define-se melhor pela clínica, consistindo na parésia dos músculos da mímica facial da hemiface ipsilateral à lesão, associada ou não a hiperacúsia, xeroftalmia e perda do paladar nos dois terços anteriores da língua. As principais causas médicas são a PFP idiopática ou de Bell (65%) e o Herpes Zoster Ótico (12%). Em áreas endémicas, também a doença de Lyme pode ter um papel relevante. Sendo um tema de consensos difíceis, os autores apresentam uma revisão da literatura e propõem um protocolo de actuação na perspectiva do diagnóstico, tratamento e orientação. ABSTRACT Facial palsy (FP) is a common disorder in children. It is caused by an aggression to the seventh cranial nerve distally to its emergence from the pons. The best way to define FP is by its clinical manifestations: paralisis of the muscles of the ipsilateral side of the face with or without hyperacusis, decreased production of tears, and loss of taste at the anterior two-thirds of the tongue. The most common medical causes are idiopathic FP, also known as Bell’s palsy (65%) and herpes zoster oticus (12%). In endemic areas, Lyme disease is also an important etiology. As this is a controversial subject, the authors present a review of the most recent literature and propose a protocol to guide diagnosis, treatment and follow up.
- Pneumonia com pneumatocelos: caso clínicoPublication . Moreira, E.; Machado, L.; Costa, C.; Xavier, C.; Quintal, I.; Cunha, J.; Garrido, C.Os pneumatocelos são cistos preenchidos por ar que se desenvolvem no parênquima pulmonar geralmente no decurso de uma pneumonia. Embora vários agentes possam estar implicados, a etiologia mais frequente é a pneumonia estafilocócica. O tratamento é o da pneumonia de base com antibioterapia adequada. O seu curso natural é a resolução lenta sem sequelas. Os autores apresentam um caso clínico de uma lactente de um mês com pneumonia com pneumatocelos, sem isolamento de agente e com evolução favorável. ABSTRACT Pneumatoceles are air-filled cysts that develop in the pulmonary parenchyma usually during pneumonia. Staphylococcus aureus is the most frequent agent. Treatment of the underlying pneumonia with antibiotics is the first line of therapy. The natural course is slow resolution with no further squeal. The authors report a case of pneumonia with pneumatocele in a one month old infant without identification of the agent with a complete resolution.