RESUMO
Uniparental disomy (UPD), where two copies of genetic material are from one parent, and none from the other, is a familiar cause of imprinting. We present a premature infant with organomegaly and congenital hyperinsulinism found to have complete UPD of paternal origin as determined by Mendelian inheritance error analysis.
Assuntos
Síndrome de Beckwith-Wiedemann/diagnóstico , Síndrome de Beckwith-Wiedemann/genética , Impressão Genômica , Dissomia Uniparental/diagnóstico , Pai , Humanos , Lactente , Masculino , Dissomia Uniparental/genéticaRESUMO
We present two children diagnosed with spontaneous pneumomediastinum. The first case is a 9-year-old male who developed neck pain with a history of poorly controlled asthma and recently diagnosed right middle lobe pneumonia. The second case is a 14-year-old male who developed chest pain with a history of cough and congestion for four days. We describe their clinical courses and discuss briefly the epidemiology, pathophysiology, diagnosis, and treatment of spontaneous pneumomediastinum. Though relatively rare in occurrence, we present these cases of spontaneous pneumomediastinum to demonstrate the variation in presentation.