Analysis of CT features of chest in Gaucher disease

Objective To explore the imaging manifestations of thoracic CT in patients with Gaucher disease (GD) in order to improve the diagnostic ability. Methods Forty-three patients with GD were collected from May 2003 to October 2018 in Beijing Children′s Hospital, including 25 males and 18 females, aged from 10 to 34 years, with an average age of (21±6) years. All the patients underwent routine chest CT examinations, and analysis and description of pulmonary interstitial and parenchyma imaging manifestations were performed. Results Among the 43 GD patients, 20 patients presented with abnormal chest CT findings: 10 showed diffuse interlobular septa thickening, mainly distributed in the lower lobes of both lungs; 5 showed ground glass opacities in a single or multiple lobes of the lung. There were 2 cases with small nodules, which showed round-like nodules of different sizes. One case had pulmonary fibrosis, especially in the left upper lobe. Other manifestations included bullae in 3 cases,localized pleural thickening in 2 cases, pneumothorax in 1 case; pulmonary hypertension in 1 case and thymus enlargement in 12 cases. Most of the GD patients had pulmonary lesions between 10 and 14 years old. The signs of interlobular septa thickening and thymus enlargement were common, with 5 cases in each age group. Conclusions GD involves the lungs in half of the patients. The manifestations of the lungs are diverse, and most of them are diffuse interstitial lesions. The main signs are interlobular septal thickening and ground glass opacity, which are consistent with the pathology of Gaucher cell infiltration.But the signs are not specific, the diagnosis should be made in combination with the clinical information, and attention should be paid to the differentiation of lung infiltration caused by other diseases. Key words: Gaucher disease; Lung; Tomography, X-ray computed