RESUMO
49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation. Psychological, endocrinologic and orthopedic disorders constitute the major problems in the clinical follow-up. Sex chromosome abnormalities should especially be kept in mind in the evaluation of patients with micropenis, mental retardation and accompanying behavioral disturbances. Management mandates a multidisciplinary approach with pediatric endocrinology, pediatric surgery, orthopedics, psychiatry, and clinical genetic evaluations.
Assuntos
Aneuploidia , Síndrome de Klinefelter/genética , Doenças Raras/genética , Adolescente , Humanos , Lactente , Cariotipagem , Síndrome de Klinefelter/diagnóstico , Masculino , Doenças Raras/diagnósticoRESUMO
Congenital unilateral absence of a pulmonary artery is a rare anomaly most frequently accompanied by other cardiovascular anomalies. We report a 10-year-old girl presenting with fatigue and recurrent hemoptysis who was initially misdiagnosed with idiopathic pulmonary hemosiderosis. Her symptoms did not resolve despite treatment so she was referred to our center for further evaluation. We carried out an angiography which revealed the absence of the right pulmonary artery and multiple collaterals originating from the right subclavian and right internal mammary arteries supplying the right lung. During the follow-up the patient developed a severe episode of pulmonary infection and pulmonary hypertension which responded well to medical treatment. Physicians should be aware of the congenital absence of the right pulmonary artery especially in patients presenting with recurrent respiratory symptoms. Although this condition is generally considered to have a good prognosis, close observation is mandatory in order to prevent further complications and comorbidities.
Assuntos
Hemoptise/etiologia , Hemossiderose/diagnóstico , Pneumopatias/diagnóstico , Artéria Pulmonar/anormalidades , Angiografia , Criança , Circulação Colateral/fisiologia , Diagnóstico Diferencial , Erros de Diagnóstico , Feminino , Seguimentos , Humanos , Hipertensão Pulmonar/congênito , Pulmão/irrigação sanguínea , Artéria Torácica Interna/anormalidades , Artéria Torácica Interna/diagnóstico por imagem , Artéria Pulmonar/diagnóstico por imagem , Artéria Subclávia/anormalidadesRESUMO
Tracheobroncopathia osteochondroplastica (TO) is a rare disease of adult males characterized by osteocartilagious submucosal nodules protruding into the airway lumen, causing variable degrees of airway obstruction. Here we describe a case of TO in a 9-year-old girl patient presenting with chronic cough, along with a brief review of this rare benign condition.
