Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia / 医学前沿
Frontiers of Medicine
;
(4): 933-937, 2021.
Article
in English
| WPRIM
| ID: wpr-922509
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Microscopy, Electron
/
Kartagener Syndrome
/
Cilia
/
Neurofibromatosis 1
/
Mutation
Limits:
Humans
Language:
English
Journal:
Frontiers of Medicine
Year:
2021
Type:
Article
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