Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia

doi:10.1007/s11684-021-0860-7

Front. Med.

2021, Vol. 15

Issue (6) : 933-937 https://doi.org/10.1007/s11684-021-0860-7

CASE REPORT

Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia

Chun Bian¹, Xinyue Zhao², Yaping Liu², Minjiang Chen³, Shuying Zheng⁴, Xinlun Tian³(

), Kai-Feng Xu³

¹. Department of Internal Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
². McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
³. Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
⁴. Department of Electron Microscope Laboratory, Peking University People’s Hospital, Beijing 100034, China

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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

Corresponding Author(s): Xinlun Tian

Just Accepted Date: 26 July 2021 Online First Date: 25 August 2021 Issue Date: 27 December 2021

Cite this article:

Chun Bian,Xinyue Zhao,Yaping Liu, et al. Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia[J]. Front. Med., 2021, 15(6): 933-937.

URL:

https://academic.hep.com.cn/fmd/EN/10.1007/s11684-021-0860-7
https://academic.hep.com.cn/fmd/EN/Y2021/V15/I6/933

Fig.1 Chest high-resolution computed tomography showed bronchiectasis in the right middle lobe (black arrow) and multiple centrilobular micronodules in both lungs; the micronodules were predominantly distributed on the right side, forming the tree-in-bud structure (gray arrow).

Fig.2 Café-au-lait macules could be seen on the patient’s skin.

Fig.3 Head magnetic resonance imaging showed the expansion of the supratentorial ventricular system, suggesting that the proximal midbrain aqueduct may have adhered.

Fig.4 Electron microscopy analysis of respiratory mucosa revealed deficiency consistent with primary ciliary dyskinesia. The black arrow shows the deficiency of central microtubules, forming a “9+ 0” arrangement. The white arrow shows the peripheral microtubules deletion, forming an “8+ 2” arrangement.

Fig.5 Sanger sequencing results and mutations identified in the patient.

Fig.6 Timeline of the patient’s medical history.

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