RESUMO
Sirenomelia, also known as "mermaid malformation/syndrome," is a rare, serious congenital anomaly characterized by variable degrees of fusion of the lower limbs and associated with severe malformations of vertebral, genitourinary, cardiovascular system and single umbilical artery. The first pregnancy of a 25-year-old woman resulted in one twin born by Cesarian section at 32 weeks' gestation, who was referred to our hospital with cyanosis, a congenital anomaly and respiratory distress. On physical examination, there was no urogenital region and anal fissure and gender was indeterminate. The arms were in adduction and wrist in flexion position with four fingers on the right hand and two fingers on the left hand. There was a single lower extremity with a webbed single foot and two toes consistent with sirenomelia type IV radiologically. Abdominal ultrasonography showed urogenital system agenesis and echocardiography detected hypoplastic left heart. However, the patient died 4 hours after birth. The other twin was followed for 1 week for nutrition and respiratory support and was then discharged without any problems.
RESUMO
Primary idiopathic chylopericardium is an extremely rare condition especially in children and young adults. Although the exact pathophysiology of primary chylopericardium has not been established, the reflux of chylous fluid into the pericardial space was suggested as the etiology. Damage to the thoracic duct valves and the communication of the thoracic duct to the pericardial lymphatics or abnormally elevated pressure in the thoracic duct could cause chylous fluid reflux. In this report, we described the case of a 4-year-old boy with primary idiopathic chylopericardium presenting as cardiac tamponade who was treated with video-assisted thoracoscopic window and then surgical duct ligation.
Assuntos
Tamponamento Cardíaco/diagnóstico , Derrame Pericárdico/diagnóstico , Tamponamento Cardíaco/cirurgia , Pré-Escolar , Ecocardiografia , Humanos , Ligadura , Masculino , Derrame Pericárdico/cirurgia , Pericardiocentese , Recidiva , Ducto Torácico/cirurgiaAssuntos
Cateterismo Cardíaco/métodos , Permeabilidade do Canal Arterial/complicações , Permeabilidade do Canal Arterial/cirurgia , Hipertensão Pulmonar/etiologia , Hipertensão Pulmonar/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Criança , Permeabilidade do Canal Arterial/diagnóstico , Feminino , Humanos , Hipertensão Pulmonar/diagnóstico , Resultado do TratamentoRESUMO
Arterial tortuosity syndrome (ATS; OMIM 208050) is a rare autosomal recessive condition characterized by dysmorphic features, elongation, tortuosity, and aneurysm of the large and middle sized arteries. We report on a 13-year-old boy who presented with a malformed ascending aorta mimicking coarctation of aorta and a cutis laxa-like facial dysmorphia. Based on angiogram, a diagnosis of ATS was made and subsequently confirmed by a homozygous one base-pair deletion at position g.318 of SLCA10. We stress similarities (facial appearance, inguinal herniae, ..) between ATS and autosomal recessive cutis laxa, both being connective tissue disorders disorganizing the elastin network.
Assuntos
Aorta Torácica/anormalidades , Instabilidade Articular/diagnóstico , Dermatopatias Genéticas/diagnóstico , Malformações Vasculares/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Adolescente , Aorta Torácica/patologia , Aortografia/métodos , Artérias/anormalidades , Diagnóstico Diferencial , Fácies , Predisposição Genética para Doença/genética , Proteínas Facilitadoras de Transporte de Glucose/genética , Humanos , Instabilidade Articular/genética , Imageamento por Ressonância Magnética/métodos , Masculino , Dermatopatias Genéticas/genética , Malformações Vasculares/genéticaRESUMO
A 3-month-old girl presented with myocarditis owing to brucellosis. Her mother had been diagnosed with brucellosis at 28 weeks gestation but did not receive treatment until after delivery. The infant had intrauterine retardation and had gained little weight since birth. It is considered likely that the brucellosis was transmitted transplacentally.
Assuntos
Brucella/isolamento & purificação , Brucelose/diagnóstico , Brucelose/microbiologia , Transmissão Vertical de Doenças Infecciosas , Miocardite/diagnóstico , Miocardite/microbiologia , Brucelose/patologia , Brucelose/transmissão , Feminino , Humanos , Lactente , Gravidez , Complicações Infecciosas na Gravidez/diagnósticoRESUMO
Pseudoachondroplasia is an autosomal dominant variant of osteochondroplasia that results in mild to severe short-limb dwarfism and early-onset of osteoarthrosis. It has been linked to results from mutations in the gene for cartilage oligomeric matrix protein. We describe a 4-year-old boy with pseudoachondroplasia who also had prolapse of the mitral valve. To the best of our knowledge, this association has not previously been reported.
Assuntos
Prolapso da Valva Mitral/complicações , Osteocondrodisplasias/complicações , Pré-Escolar , Ecocardiografia , Humanos , Masculino , Prolapso da Valva Mitral/diagnóstico por imagemAssuntos
Cútis Laxa/congênito , Cútis Laxa/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Transtornos do Crescimento/diagnóstico , Pré-Escolar , Cútis Laxa/complicações , Deficiências do Desenvolvimento/complicações , Feminino , Transtornos do Crescimento/complicações , Humanos , Prognóstico , SíndromeRESUMO
The diagnostic value of serum adenosine deaminase (ADA) activity was evaluated in childhood pulmonary tuberculosis. Serum ADA levels were measured in 20 children diagnosed with pulmonary tuberculosis (group 1) and 150 children (group 2) including 128 with tuberculosis infection (Mantoux test positive) and 22 healthy children. In group 1, the mean serum ADA activity was 74.06 +/- 18.5 U/l, which was significantly (p < 0.001) higher than that of group 2 (40.36 +/- 12.0 U/l). A serum ADA level of > or = 53.76 U/l had a sensitivity of 100 per cent, specificity of 90.7 per cent, positive predictive value of 58.8 per cent, and a negative predictive value of 100 per cent in children with tuberculosis disease. To conclude, measurement of serum ADA activity was a useful diagnostic tool in childhood pulmonary tuberculosis.
Assuntos
Adenosina Desaminase/sangue , Tuberculose Pulmonar/diagnóstico , Adolescente , Biomarcadores , Criança , Pré-Escolar , Humanos , Sensibilidade e Especificidade , Estatísticas não Paramétricas , Tuberculose Pulmonar/sangueRESUMO
A 13-year-old girl was referred for assessment of severe gastrointestinal tract bleeding. Her liver function tests were normal, and she had no evidence of chronic liver disease or history of significant trauma. Clinical and sonographic findings suggested the presence of a portal vein aneurysm associated with a hepatoportal arteriovenous fistula. Abdominal angiography confirmed the diagnosis. The arteriovenous fistula was congenital, and the associated portal vein aneurysm was either congenital or secondary to hemodynamic changes in the portal venous system.