Type II congenital pulmonary airway malformation with primary ciliary dyskinesia in a 4-year-old child: A case report |
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Authors: | Li Li MD Rou Liu MD Yuanxiang Wang MD Wenjian Wang MD |
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Institution: | 1. Department of Respiratory Diseases, Shenzhen Children's Hospital, Shenzhen, Guangdong, China;2. Department of Thoracic Surgery, Shenzhen Children's Hospital, Shenzhen, Guangdong, China |
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Abstract: | A congenital pulmonary airway malformation (CPAM) combined with primary ciliary dyskinesia (PCD) has not been described in literature. Herein, we described the case of a 4-year-old boy who presented to us with recurrent productive cough and rhinorrhea for 2 years. High resolution computed tomography of the thorax revealed multiple, cystic, transparent shadows of different sizes near the posterior thoracic cavity in the lower lobe of the left lung. Thoracoscopic segmentectomy was carried out and histology confirmed a type II CPAM. Whole-exome sequencing revealed a compound heterozygous mutation (c.10568+1G>A, c.9484delG) in the DNAH11 gene associated with PCD that originated from the boy's mother and father, respectively. This report showed that when a child with CPAM presents with a productive cough and recurrent sinusitis, irrespective of situs inversus, PCD should be suspected. Genetic testing can aid in diagnosis. |
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Keywords: | child congenital pulmonary airway malformation primary ciliary dyskinesia |
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