Severe pulmonary involvement with cor pulmonale; the initial presenting feature of non- neuronopathic form of Gaucher’s disease

摘要

Although pulmonary involvement is a known entity in Gaucher’s disease. It varies in severity from asymptomatic with only subtle radiological abnormality or abnormal finding on pulmonary function testing to severe form of interstitial lung disease with cor pulmonale. Most of severe forms of pulmonary involvement are noted in neuronopathic forms of disease and also it is rarely noted as first presentation of the disease. We report here an eight year and seven months old girl of non-neuronopathic form of gaucher’s disease who intially presented with severe pulmonary involvement in form of interstitial lung disease and severe pulmonary hypertension resulting in cor pulmonale as a first presentation of disease.