Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia

Abstract

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.

Keywords

primary ciliary dyskinesia / neurofibromatosis / bronchiectasis / transmission electron microscopy / genetic sequencing

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Conclusions

In this case, an extremely rare case of combined PCD and NF1 was described. Although the diagnosis of NF was clear, lung changes inconsistent with NF led us to consider the differential diagnosis of bronchiectasis. Finally, the diagnosis of PCD combined with NF was made by observing relevant clinical manifestations, transmission electron microscopy changes, and related gene (i.e., RSPH4A) mutations.

Acknowledgements

This research was supported by the National Key Research and Development Program of China (No. 2016YFC0901502) and CAMS Innovation Fund for Medical Sciences (Nos. CIFMS-2018-I2M-1-003, CIFMS-2017-12M-2-001, CIFMS-2020-I2M-C&T-B-002, and CIFMS-2016-I2M-1-002).

Compliance with ethics guidelines

Chun Bian, Xinyue Zhao, Yaping Liu, Minjiang Chen, Shuying Zheng, Xinlun Tian, and Kai-Feng Xu declare that they have no conflict of interest. Informed consent was obtained from the patient for publication of all related materials.

版权

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