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2021 1

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Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia

《医学前沿（英文）》 2021年 第15卷 第6期   页码 933-937 doi: 10.1007/s11684-021-0860-7

摘要： Neurofibromatosis (NF) is a genetic disease in which the lungs are rarely involved. However, in NF cases with lung involvement, chest computed tomography may show bilateral basal reticulations, apical bullae, and cysts without bronchiectasis. Herein, we report a patient diagnosed with NF on the basis of the results of genetic testing who presented with early-onset wet cough and bronchiectasis. Considering the differential diagnosis of bronchiectasis combined with his early-onset wet cough, sinusitis, and sperm quality decline, we considered the possibility of primary ciliary dyskinesia (PCD). Further electron microscopy analysis of cilia and identification of homozygous mutations in the RSPH4A gene confirmed the diagnosis of PCD. Therefore, for patients with NF, when an image change exists in the lungs that does not correspond to NF, the possibility of other diagnoses, including PCD, must be considered.

关键词： primary ciliary dyskinesia     neurofibromatosis     bronchiectasis     transmission electron microscopy     genetic sequencing    

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Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia

期刊论文