Spontaneous thrombosis of the arterial duct in a newborn with alloimmune thrombocytopaenia.

We present an uncommon challenging case of spontaneous thrombosis of the arterial duct and with alloimmune thrombocytopaenia in a full-term newborn who presented with respiratory distress, hypoglycaemia dispersed petechiae on the trunk, and significant haemorrhage of the umbilical venous catheter.

[Infective endocarditis as a form of late presentation of congenital heart disease]. / Endocardite infecciosa como primeira manifestação de cardiopatia congénita de apresentação tardia.

A diagnosis of congenital heart disease is usually established at an early age, so infective endocarditis is a rare form of presentation. The authors describe the case of a male adolescent with a week-long history of intermittent fever and unquantified weight loss. Physical examination detected pansystolic and diastolic murmurs, and an associated precordial thrill. Laboratory tests showed evidence of an active infection. Etiological investigation revealed a perimembranous ventricular septal defect, aortic regurgitation, and aortic and mitral valve vegetations. A diagnosis of mitral-aortic infective endocarditis was made and he was started on intravenous antibiotics and anticongestive therapy. After initial clinical improvement, he developed symptoms and signs of congestive heart failure. Repeat echocardiography showed an extensive mitral-aortic paravalvular abscess. The antibiotics were changed and anticongestive therapy was intensified, and he subsequently underwent surgery. The outcome has been generally favorable, and at present he is asymptomatic under anticongestive therapy.

[Asymptomatic cardiac tumor in a child: an incidental diagnosis]. / Tumor cardíaco em criança assintomática: um diagnóstico acidental.

Cardiac tumors in the pediatric population are rare, their incidence range between 0.001% and 0.003%. They are mostly benign, rhabdomyomas the most common type, followed by fibromas. The clinical features are being usually nonspecific and depend on the size and location of the tumor within the heart. We report the case of a previously healthy four-year-old boy referred for flu-like symptoms. A respiratory infection was suspected and a chest X-ray showed an increased cardiothoracic index. An echocardiogram revealed a single large heterogeneous mass in the left ventricle emerging from the lateral wall. Despite its size, the mass did not obstruct the left ventricular outflow tract or affect mitral valve function. Cardiac magnetic resonance imaging showed a large mass whose imaging features were suggestive of a fibroma. He became symptomatic during follow-up and was referred for surgical excision of the mass. Histological study confirmed a fibroma. At present the patient remains asymptomatic.

Left ventricular noncompaction: analysis of a pediatric population.

INTRODUCTION: Left ventricular noncompaction (LVNC) is a rare and potentially progressive cardiomyopathy, characterized by the persistence of multiple trabeculations and deep intratrabecular recesses in the ventricular myocardium. Although two-dimensional and color Doppler echocardiography are the most useful diagnostic modalities, cardiac magnetic resonance imaging has proved to have high sensitivity and specificity in the diagnosis of this anomaly. OBJECTIVE: To characterize the clinical and imaging features of LVNC in a pediatric population and to assess their evolution. METHODS AND RESULTS: We performed a retrospective chart review of five pediatric patients with LVNC, followed at Coimbra Pediatric Hospital between January 1999 and December 2007. Median age at presentation was five months (ranging from one day to 13 years), and they were mainly male (1.5:1). Two of the children had a family history of sudden death. In one case the clinical presentation was cardiac arrest due to ventricular fibrillation and in three others, congestive cardiac failure. None of the five cases had associated congenital cardiac anomalies. Involvement of the ventricular apical region was found in all cases. Four children additionally had ventricular dysfunction which improved with diuretic and vasodilator therapy. Mean follow-up was 34 months, ranging from six months to seven years. In one case a change in the morphological phenotype was noted, from a dilated to a hypertrophic form. In this case and in the child's father a mutation in the MYBPC3 gene was identified, which is associated with hypertrophic cardiomyopathy. No thromboembolic phenomena or deaths occurred during the study period. CONCLUSION: In the pediatric population, congestive cardiac failure is the most common clinical presentation of LVNC, which can coexist with other cardiomyopathies, particularly dilated and hypertrophic forms. The sample presented in this analysis is statistically non-significant due to its limited size and the authors highlight the need for larger prospective studies in the pediatric population in order to clarify this disease and its diagnostic criteria.

Lung cancer: atypical brain metastases mimicking neurocysticercosis.

The authors describe a case of a 47-year-old male smoker with a 3-month history of hearing loss, tinnitus and dizziness. Physical examination revealed neurosensory hearing loss. Small rounded hypodensities without mass effect were evident in a computed tomography scan of the head, confirmed by brain magnetic resonance imaging as multiple cystic lesions in both cerebral and cerebellar hemispheres, without perilesional edema or gadolinium enhancement, suggestive of neurocysticercosis. Extraparenchymal involvement was also noted. Albendazole and dexamethasone were started. As a chest radiograph showed a bilateral reticulonodular pattern, a bronchoscopy was performed showing normal results. However, transbronchial biopsy revealed lung adenocarcinoma. Thoracoabdominopelvic computed tomography scan showed secondary lung and bone lesions. Since brain lesions were not suggestive of secondary tumor lesions, a brain biopsy was performed confirming metastatic disease. This case illustrates some peculiar imagiological features of brain metastases in lung cancer, indicating that sometimes invasive procedures are required to establish a definitive diagnosis.

Síndrome do Coração Esquerdo Hipoplásico: 19 anos de diagnóstico pré-natal / Hypoplastic left heart syndrome: 19 years of prenatal diagnosis

Introducão: a Síndrome do Coracão Esquerdo Hipoplásico é uma cardiopatia complexa, caracterizada pelo subdesenvolvimento das estruturas cardíacas esquerdas. Pode ser diagnosticada a partir das 18 semanas de gestacão através da ecocardiografia fetal transabdominal. Objectivo: descrever a abordagem de uma equipa de Diagnóstico Pré-natal de um centro de referência materno-infantil no contexto da Síndrome do Corac¸ão Esquerdo Hipoplásico, entre Janeiro de 1990 e Dezembro de 2008 e o seguimento dos casos diagnosticados. Material e métodos: análise retrospectiva dos casos com o diagnóstico pré-natal de Síndrome do Corac¸ão Esquerdo Hipoplásico nos últimos 19 anos. Foram analisados os seguintes parâmetros: ano de diagnóstico, motivo de referência à consulta de cardiologia fetal, idade gestacional do diagnóstico, idade gestacional da interrupc¸ão médica da gravidez, mortes fetais, dados da necrópsia, antecedentes familiares de cardiopatia, peso de nascimento, idade gestacional dos recém-nascidos e respectivo seguimento. Resultados: durante o período em análise foram diagnosticadas na Consulta de Cardiologia Fetal 311 cardiopatias congénitas e destas 67 (21.5%) correspondiam a Síndrome do Corac¸ão Esquerdo Hipoplásico. Vinte e nove (43.3%) casais optaram pela interrupcão médica da gravidez. A idade gestacional mediana de interrupc¸ão médica da gravidez foi de 24 semanas, variando de 20 a 35 semanas. Nestes casos, a necrópsia foi concordante com o diagnóstico de Síndrome do Corac¸ão Esquerdo Hipoplásico. Registaram-se quatro mortes fetais. Dos 34 recém-nascidos vivos, oito faleceram no período neonatal precoce. Dos 12 recém-nascidos sujeitos a cirurgia cardíaca, seis estão vivos, três dos quais após dois anos de conclusão do terceiro estadio da cirurgia paliativa de Norwood. Conclusões: Apesar da possibilidade de um diagnóstico precoce, do avanco das técnicas percutâneas, cirúrgicas e cuidados intensivos neonatais, trata-se de uma patologia com uma morbimortalidade significativa associada, pelo que a sua abordagem continua a ser um desafio(AU)

Introduction: the Hypoplastic Left Heart Syndrome is due to the underdevelopment of leftsided cardiac structures. This syndrome can be diagnosed from 18 weeks of gestation through transabdominal fetal echocardiography. Aims: description of a prenatal diagnosis team approach in the context of Hypoplastic Left Heart Syndrome, from January 1990 to December 2008, and case follow-up. Material and methods: retrospective analysis of the Hypoplastic Left Heart Syndrome cases diagnosed prenatally during the course of 19 years. The following parameters were analysed: year of diagnosis, reason for referral, gestational age at diagnosis, gestational age of medical termination of the pregnancy, necropsy findings, fetal deaths, family past history of congenital heart disease, birth weight, gestational age of the newborns and follow-up. Results: during the studied period 311 congenital heart diseasewere diagnosed in our department, 67 (21.5%) of which with Hypoplastic Left Heart Syndrome. Twenty-nine (43.3%) parents opted for medical termination of the pregnancy. The median gestational age for medical abortion was 24 weeks, varying from 20 to 35 weeks. In these cases the necropsy confirmed the prenatal diagnosis of Hypoplastic Left Heart Syndrome. There were four fetal deaths. Of the 34 newborns, eight died in the early neonatal period. Regarding the 12 newborns that underwent surgical correction, six are alive; three of them two years post the completion of the Norwood’s third stage. Conclusion: despite advances in neonatal intensive care, surgical techniques and percutaneous therapy, the morbidity and mortality associated with this pathology raises several ethical issues(AU)

Suicide attempts after subthalamic nucleus stimulation for Parkinson's disease.

A higher risk of suicidal attempt after subthalamic nucleus deep brain stimulation (STN-DBS) for Parkinson's disease (PD) has been consistently reported. We retrospectively analyzed 3 PD patients with suicide attempts after STN-DBS. All patients had normal pre- and immediate postoperative psychopathological and cognitive evaluations, with STN-DBS yielding a good motor benefit. Levodopa medication was markedly reduced. Albeit there was a significant reduction in dopaminergic medication, there was also a considerable time lag to suicide attempt. Impulsive behavior could have played a higher role, going unnoticed in punctual psychopathological examinations. STN-DBS patients need a closer postoperative psychiatric and behavioral follow-up.