RN&C: Ano de 2011
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- Caso electroencefalográfico: epilepsia mioclónica precocePublication . Monteiro, Tânia; Martins, Esmeralda; Chorão, RuiABSTRACT Introduction: The suppression-burst (SB) electroencephalographic pattern is rather common during the neonatal period and suggests severe encephalopathy. When significant hypoxic-ischemic insult is excluded, brain malformations and metabolic disorders have to be ruled out. Two distinctive epileptic syndromes are described: early epileptic encephalopathy with SB (Ohtahara syndrome) and early myoclonic epilepsy (EME). The later is frequently associated with neurometabolic disorders, one of the most common being nonketotic hyperglycinemia (NKH). Case report: A baby girl presented with multiple erratic clonic and myoclonic seizures from the second day of life, refractory to antiepileptic drugs. She was hypotonic, lethargic and had episodes of apnea. The electroencephalogram (EEG) showed multiple bursts of multifocal epileptiform activity with long periods of almost flat tracing; this pattern persisted beyond the neonatal period, it was present at the last EEG performed at age four months. Barbiturate-induced coma with mechanical ventilation was induced. She died at the age of five months. The second but not the first sample of cerebrospinal fluid (CSF) and blood revealed an increased CSF/serum glycine ratio (0,11 – normal<0,03). Post-morten liver tissue biopsy found a defi cit at the glycine cleavage system (GCS) (6,6 mkat/ kg - normal 45,0-195,0) and molecular studies detected a mutation in the gene GLDC molecular testing. This result allowed better parent’s genetic counseling. Conclusions: Early myoclonic epilepsy presents with multifocal seizures and SB on pattern on the EEG in the neonatal period, metabolic causes must be investigated, namely the neonatal form of NHK. CSF and plasma aminoacids, including glycine levels, should be measured, simultaneously and sometimes repeatedly. Enzymatic and molecular analysis may confirm this diagnosis and are useful for parent’s genetic counseling.
- Caso radiológico: teratoma cervical fetalPublication . Macedo, F.We present a case of a third trimester fetus with a cervical mass. Fetal MRI was performed to better evaluate the extension of the mass and the risk of obstruction of the airway in the neonatal period. MRI is very useful in the evaluation of fetal cervical masses.
- Caso hematológico: trombocitemia essencialPublication . Lopes, R.; Araújo, L.; Costa, E.; Soares, S.; Barbot, J.Essential Thrombocythemia (ET) is a rare disease in pediatric age. The dominant clinical manifestations are thrombotic (arterial or venous) and/or hemorrhagic, but most of the cases are asymptomatic, and diagnosis made by routine hemogram. A previously healthy adolescent, federated football player, was oriented to the paediatric haematology consultation, at the age of 15 years, because of the presence of sustained thrombocytosis. It was established the diagnosis of Essential Thrombocythemia based on the criteria of the World Health Organization (WHO) 2008. The authors highlight the importance of establishing this diagnosis, even in pediatric age, to set the earliest possible a strategy of clinical surveillance, prevention of associated complications and the most adequate therapeutic approach.
- Caso estomatológico: agenesia dentáriaPublication . Amorim, J.We present the case of a 16 year-old boy with agenesis of upper lateral incisive teeth and increased interincisors spaces. The etiology of dental agenesis is unknown and the more consensual explanation is an association between genetic mutations and environmental factors. Orthodontic treatment was performed, followed by prosthodontics.
- Caso dermatológico: Tinea incognitoPublication . Pinto-Almeida, T.; Selores, M.A two year-old girl presented with an erythematous scaly patch on the right axilla that had grown centrifugally over the past three months. She had atopic eczema, for which she applied topical corticosteroids during flares. Her mother had a similar lesion on the abdominal wall, and both of them were applying the same topical steroid. Microscopic evaluation and culture of both skin samples confi rmed the clinical suspicion of tinea incognito. The clinical features, diagnostic procedures and treatment of this pathological entity are discussed.
- Caso endoscópico: sindroma de Peutz -JeghersPublication . Pereira, F.We present the case of an eight year-old girl with a family history of hammartous polyposis that was observed at the Pediatric Gastroenterology Department. Physical examination disclosed mucocutaneous melanic spots in the conjunctivae, lips, mouth and fingers, suggesting a Peutz-Jeghers syndrome and indicating an endoscopic screening. She performed a video capsule endoscopy that showed the presence of multiple polyps in the small bowel, supporting this diagnosis.
- Hímen imperfurado como causa de retenção urinária: a importância do exame físicoPublication . Pinto, M.; Monteiro, J.; Gomes, L.; Ferreira, H.; Gameiro, M.; Costa, M.Introdução: O hímen imperfurado (HI) é a alteração obstrutiva mais frequente do aparelho genital feminino. Estima-se que atinja 1:1000 – 1:10000 meninas. Caso clínico: Descreve-se o caso de uma adolescente de 13 anos, com história de obstipação e escoliose lombar. Recorreu ao Serviço de Urgência (SU) por episódio de retenção urinária, acompanhada de globo vesical. Apresentava uma história de dor hipogástrica com 11 meses de evolução, de carácter cíclico mensal. Referência a polaquiúria e dificuldade em iniciar a micção dois meses antes de recorrer ao SU, e ausência de menarca. O exame objectivo evidenciou estadio pubertário de Tanner 4-5, abaulamento da parede anterior do recto com massa adjacente palpável e protusão do hímen íntegro e imperfurado. Foi diagnosticado HI e hematometrocolpos confirmado por ecografia. Foi submetida a himenotomia, com drenagem de conteúdo hemático abundante, com resolução do quadro clínico. Conclusão: Com este caso clínico, os autores querem salientar que o exame objectivo completo é uma pedra fulcral na avaliação da criança ou adolescente. ABSTRACT Introduction: Imperforate hymen (IH) is the most frequent obstructive anomaly of the female genital tract. It is estimated that occurs in 1:1000 – 1:10000 girls. Case report: We report a case of a 13-year-old girl with a history of constipation and lumbar scoliosis. She presented to the emergency department (ED) with urinary retention and vesical globe. She referred hypogastric pain for 11 months recurring every month. She also referred absence of menarche, and increased urinary frequency and difficulty to start urination for two months. The physical examination showed Tanner pubertal stage 4-5, bulging of the anterior wall of the rectum with palpable adjacent mass and protrusion of intact and imperforate hymen. Imperforated hymen and hematometrocolpos were diagnosed, confirmed by ultrasound. Hymenotomy and drainage of abundant hematic secretions were performed with resolution of her symptoms. Conclusion: With this case, the authors want to emphasize the importance of a complete physical examination in a child or adolescent.
- O direito à saúde na União Europeia em perspectiva diacrónica: elementos para uma genealogia do artigo 35.º da CDFUEPublication . Vale, L.O objectivo primacial deste artigo consiste em traçar rapidamente a genealogia histórica do artigo 35º da Carta Europeia dos Direitos Fundamentais, captando-a na confluência de três veios relevantes do processo europeu de integração: os que concernem respectivamente à saúde, aos direitos humanos e à socialidade. Assim, nesta PARTE I, logo que as considerações introdutórias estejam concluídas, arriscaremos um vislumbre do horizonte de compreensão a assumir no que toca às relações entre saúde, justiça e direito, partindo do reconhecimento da importância da saúde como bem humano fundamental – com uma miríade de significados e valências (e, por conseguinte, nuclear para diversos tipos de discursos epistémicos, bem como de sistemas e práticas sociais) – exporemos algumas das mais provocantes questões que coloca, considerando-as como problemas de justiça, carentes de alguma forma de intervenção jurídica. Para encerrarmos, enfim, com a caracterização sumária do direito da saúde e, particularmente, do direito à saúde, ambos considerados em termos muito genéricos, tal como derivam dos contemporâneos standards de direito internacional, transnacional e comparado. ABSTRACT The main purpose of this article is to portray the basic historical genealogy of article 35º of the European Union Charter of Fundamental Rights, while it can be captured at the confluence of three relevant veins of the European integration process: those respectively concerned with health, human rights and sociality. In PART I, once the opening considerations are concluded, we will risk a quick glimpse into the horizon of understanding which is to be assumed, regarding the relations between health, justice and law: so, departing from the acknowledgment of health’s crucial importance as a fundamental human good – with a myriad of meanings and valences (and therefore nuclear to several sorts of epistemic discourses, as well as to social systems and practices) – we will expose some of the most provocative questions it poses as relevant problems of justice, which demand some kind of juridical intervention. We will conclude, then, with a summarized characterization of health law, and particularly, of the right to health care – both considered in general terms, as derived from the contemporaneous international, transnational and comparative law standards.
- Síndroma Cornelia de Lange e Disgenesia CerebralPublication . Leite, A.; Real, M.V.; Santos, F.Introdução: A Síndroma Cornelia de Lange (SCdL) é uma síndroma polimalformativa rara, caracterizada por aparência facial peculiar, atraso de crescimento e do desenvolvimento psicomotor, alterações comportamentais e malformações major associadas (cardíacas, gastrointestinais e musculoesqueléticas). Caso clínico: Os autores descrevem o caso duma lactente de seis meses, sexo feminino, com SCdL grave e disgenesia cerebral congénita em que a pesquisa de mutações no gene NIPBL foi negativa. Actualmente, aos três anos e meio, esta criança mantém seguimento por uma equipa multidisciplinar, com uma evolução clínica positiva, particularmente nas áreas motoras (postura e manipulação). Discussão: O diagnóstico da SCdL é sobretudo clínico. A confirmação molecular pode ser útil em casos duvidosos, mas as mutações no gene NIPBL estão presentes em apenas 50% dos casos, pelo que perante um diagnóstico clínico seguro a ausência de mutações neste gene não exclui o diagnóstico. O diagnóstico precoce desta doença é útil para a programação de cuidados antecipatórios em relação às complicações mais frequentes e para aconselhamento genético aos pais. ABSTRACT Background: Cornelia de Lange Syndrome (CdLS) is a rare multiple malformation syndrome, characterized by specific facial features, small stature, developmental delay and major malformations (cardiac, gastrointestinal and musculoskeletal systems). Case Report: The authors describe a clinical case of a six-month-old female toddler, with severe CdLS and congenital cerebral dysgenesis, in whom no NIPBL mutation was found. Nowadays, at the age of three and half years, this patient maintains a multidisciplinary approach and has a favourable evolution of her motor status (posture and manipulation). Discussion: The diagnosis of CdLS is based in mostly on clinical grounds. Molecular confi rmation can be helpful in atypical cases, but since mutations in the NIPBL gene are found in only around 50% of patients, failure to identify mutations does not exclude the diagnosis. An early diagnosis is important to program anticipatory surveillance for the most frequent complications of this condition and to provide adequate genetic counseling.
- Um caso clínico de pseudohipoparatiroidismoPublication . Vieira, H.; Vieira, P.Introdução: O pseudohipoparatiroidismo engloba um grupo heterogéneo de doenças que se caracterizam por resistência dos órgãos alvo à acção da hormona paratiroideia. Caso clínico: Descreve-se o caso clínico de uma criança de nove anos, com história de convulsões generalizadas e câimbras, de aparecimento aos quatro e seis anos, respectivamente. Apresentava dismorfia facial, cataratas, atraso na erupção das peças dentárias, sinais de Chvostek e Trousseau, atraso do desenvolvimento psicomotor e baixa estatura. Na tomografia cranio-encefálica evidenciavam-se calcificações intraparenquimatosas. A presença de hipocalcemia, hiperfosfatemia e aumento da hormona paratiroideia permitiu estabelecer o diagnóstico de pseudohipoparatiroidismo. O fenótipo de osteodistrofia hereditária de Albright associado a alterações da função tiroideia é sugestivo de pseudohipoparatiroidismo do tipo Ia, por ser o mais frequente. O doente manteve irregular adesão à terapêutica, o que motivou múltiplas descompensações metabólicas. Conclusão: Salienta-se que a hipocalcemia deve ser considerada no diagnóstico diferencial das convulsões em idade pediátrica. O diagnóstico atempado e o correcto cumprimento da terapêutica, permitem prevenir as complicações da hipocalcemia. ABSTRACT Introduction: The pseudohypoparathyroidism includes a heterogeneous group of diseases characterized by parathyroid hormone action resistance of target organs. Case report: We report the case of a nine year-old child with generalized convulsions and cramps since the age of four and six years, respectively. He presented dysmorphic features, cataracts, delayed teeth eruption, Chvostek and Trousseau signs, psychomotor delay and short stature. Brain tomographic scan revealed cerebral intraparenquimatous calcifications. The presence of hypocalcemia, hyperphosphatemia and increased parathyroid hormone established the diagnosis of pseudohypoparathyroidism. The phenotype of Albright hereditary osteodystrophy associated with changes in thyroid function are suggestive of pseudohypoparathyroidism Ia, the most frequent type. The patient had irregular adherence to therapy, which caused several metabolic decompensation. Conclusion: We emphasize that hypocalcemia should be considered in the differential diagnosis of children seizures. Early diagnosis and proper compliance to therapy should prevent damage associated with hypocalcemia.