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
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.
SF Alves Júnior, G Zanetti, AS Alves de Melo, AS Souza Jr, LS Souza, G de Souza Portes Meirelles, KL Irion, B Hochhegger, E Marchiori. Neurofibromatosis type 1: state-of-the-art review with emphasis on pulmonary involvement. Respir Med 2019; 149: 9–15 https://doi.org/10.1016/j.rmed.2019.01.002
pmid: 30885426
AC Zamora, HR Collard, PJ Wolters, WR Webb, TE King. Neurofibromatosis-associated lung disease: a case series and literature review. Eur Respir J 2007; 29(1): 210–214 https://doi.org/10.1183/09031936.06.00044006
pmid: 16870664
5
V Mirra, C Werner, F Santamaria. Primary ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies. Front Pediatr 2017; 5: 135 https://doi.org/10.3389/fped.2017.00135
pmid: 28649564
6
A Frommer, R Hjeij, NT Loges, C Edelbusch, C Jahnke, J Raidt, C Werner, J Wallmeier, J Große-Onnebrink, H Olbrich, S Cindrić, M Jaspers, M Boon, Y Memari, R Durbin, A Kolb-Kokocinski, S Sauer, JK Marthin, KG Nielsen, I Amirav, N Elias, E Kerem, D Shoseyov, K Haeffner, H Omran. Immunofluorescence analysis and diagnosis of primary ciliary dyskinesia with radial spoke defects. Am J Respir Cell Mol Biol 2015; 53(4): 563–573 https://doi.org/10.1165/rcmb.2014-0483OC
pmid: 25789548
MAKM Zariwala, MW Leigh. Primary Ciliary Dyskinesia. 2007 Jan 24 [Updated 2019 Dec 5]. In: Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. 1993–2021
10
E Lionetti, R Francavilla, M Ruggieri, V Di Stefano, MB Principi, L Pavone. Recurrent peptic ulcer disease in a pediatric patient with type 1 neurofibromatosis and primary ciliary dyskinesia. Minerva Pediatr 2009; 61(5): 557–559
pmid: 19794381
11
VH Castleman, L Romio, R Chodhari, RA Hirst, SC de Castro, KA Parker, P Ybot-Gonzalez, RD Emes, SW Wilson, C Wallis, CA Johnson, RJ Herrera, A Rutman, M Dixon, A Shoemark, A Bush, C Hogg, RM Gardiner, O Reish, ND Greene, C O’Callaghan, S Purton, EM Chung, HM Mitchison. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet 2009; 84(2): 197–209 https://doi.org/10.1016/j.ajhg.2009.01.011
pmid: 19200523
12
ML Daniels, MW Leigh, SD Davis, MC Armstrong, JL Carson, M Hazucha, SD Dell, M Eriksson, FS Collins, MR Knowles, MA Zariwala. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum Mutat 2013; 34(10): 1352–1356 https://doi.org/10.1002/humu.22371
pmid: 23798057
13
J Roth, S Constantini, G. CinalliNeurofibromatosis type 1-related hydrocephalus: causes and treatment considerations. Childs Nerv Syst 2020; 36(10): 2385–2390 PMID: 32504175 2020. https://doi.org/10.1007/s00381-020-04719-y
