case_images: PMC11169881_01
case_images: (A-D) Nasal cytology sample collected by nasal scraping. The sample of nasal epithelial cells is poor (ciliated cells) (see black arrow). Rare mucous cells (goblet cells) are visible (see blue arrow). Note that ciliated cells are almost all abnormal: the typical hyperchromatic supranuclear streak (HSS), normally present in healthy cells, as well as the ciliary apparatus, are poorly recognizable (see green arrow). Furthermore, degenerative and inflammatory features are noticeable (dyschromia and karyorrhexis of nucleus, and cytoplasmic vacuolization, see yellow arrow; ciliocytophthoria, see orange arrow). Some inflammatory cells such as eosinophils (see red full arrow) and neutrophils (see black full arrow) are present. May-Grunwald Giemsa (MGG) stain, optical microscope, 100x and 400x magnification.
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case_images: F1
case_images: Sanger sequencing was performed to confirm the homozygous status of the proband and that her parents were heterozygous carriers of the same mutation (Supplementary Figure S1).
case_images: Endoscopic view of the left nasal fossa: polyps from the meatal area and from the anterior ethmoid.
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case_images: F2
case_images: Nasal fibroendoscopy documented hypertrophy of the lower and middle turbinates with polypoid formations originating from the middle meatus and abundant mucous secretions (Figure 2), with endoscopic Lund-Kennedy scores of 5 and 4 for the right and left nasal cavities, respectively.
case_images: Coronal CT scan: almost complete opacification of the nasal cavities, the ethmoid labyrinth, and the maxillary sinuses.
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case_images: F3
case_images: A paranasal sinus CT scan showed pansinusopathy with complete obliteration of the maxillary sinuses, sphenoid sinus and ethmoid cells, and hypertrophy of the nasal turbinates (Figure 3), with a Lund-McKay score of 10 for both nostrils.
case_images: Immunofluorescence analyses. FITC (green) ligand for target protein RSPH1, RSPH9, GAS8, DNAH11, and DNAH5 performed on sample from nasal brushing. The nuclei counterstaining was achieved with DAPI. Acetylated tubulin was not available at the time of tests. Top: the healthy control shows the presence of all the target proteins in ciliated cells; bottom: the patient shows the selective absence of staining for GAS8 in ciliated cells (red arrow).
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case_images: F4
case_images: However, a protocol was subsequently developed, as previously reported by Shoemark et al., and we were able to confirm the GAS8 deficiency in the current case (Figure 4).