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Frontiers in Molecular Biosciences 2023Primary ciliary dyskinesia (PCD; MIM 242650) is a rare genetic disorder characterized by malfunction of the motile cilia resulting in reduced mucociliary clearance of...
Primary ciliary dyskinesia (PCD; MIM 242650) is a rare genetic disorder characterized by malfunction of the motile cilia resulting in reduced mucociliary clearance of the airways. Together with recurring infections of the lower respiratory tract, chronic rhinosinusitis (CRS) is a hallmark symptom of PCD. Data on genotype-phenotype correlations in the upper airways are scarce. We investigated the prevalence, radiologic severity, and impact on health-related quality of life (HrQoL) of CRS in 58 individuals with genetically confirmed PCD. Subgroup analysis was performed according to the predicted ultrastructural phenotype based on genetic findings. Among 58 individuals harboring pathogenic variants in 22 distinct genes associated with PCD, all were diagnosed with CRS, and 47% underwent sinus surgery. A total of 36 individuals answered a German-adapted version of the 20-item Sinonasal Outcome Test (SNOT-20-GAV) with a mean score of 35.8 ± 17, indicating a remarkably reduced HrQoL. Paranasal sinus imaging of 36 individuals showed moderate-to-severe opacification with an elevated Lund-Mackay Score (LMS) of 10.2 ± 4.4. Bilateral agenesis of frontal sinus (19%) and sphenoid sinus (9.5%) was a frequent finding in individuals aged 16 years or older. Subgroup analysis for predicted ultrastructural phenotypes did not identify differences in HrQoL, extent of sinus opacification, or frequency of aplastic paranasal sinuses. PCD is strongly associated with CRS. The high burden of disease is indicated by decreased HrQoL. Therefore, the upper airways of PCD individuals should be evaluated and managed by ear-nose-throat (ENT) specialists. Genetically determined PCD groups with predicted abnormal (near) normal ultrastructure did not differ in disease severity. Further studies are needed to gain evidence-based knowledge of the phenotype and management of upper airway manifestations in PCD. In addition, individuals with agenesis of the frontal and sphenoid paranasal sinuses and chronic respiratory symptoms should be considered for a diagnostic evaluation of PCD.
PubMed: 37860582
DOI: 10.3389/fmolb.2023.1258374 -
BMC Neurology Jan 2023Tolosa-Hunt syndrome (THS) is characterized by painful ophthalmoplegia caused by idiopathic granulomatous inflammation involving the cavernous sinus region. Patients...
BACKGROUND
Tolosa-Hunt syndrome (THS) is characterized by painful ophthalmoplegia caused by idiopathic granulomatous inflammation involving the cavernous sinus region. Patients respond well to steroid therapy. THS is included in the differential diagnosis of cavernous sinus syndrome, so it is important to fully exclude other lesions in this area before treatment, otherwise steroid treatment may lead to fatal outcomes. Here we describe a patient who initially presented with symptoms that simulated THS symptoms and developed recurrent alternating painful ophthalmoplegia during follow-up, and the patient was finally diagnosed with cavernous sinusitis caused by bacterial sphenoid sinusitis.
CASE PRESENTATION
A 34-year-old woman presented with left painful ophthalmoplegia. Magnetic resonance imaging (MRI) revealed abnormal signals in the left cavernous sinus area, and these abnormal signals were suspected to be THS. After steroid treatment, the patient obtained pain relief and had complete recovery of her ophthalmoplegia. However, right painful ophthalmoplegia appeared during the follow-up period. MRI showed obvious inflammatory signals in the right cavernous sinus and right sphenoid sinus. Then nasal sinus puncture and aspiration culture were performed, and the results showed a coagulase-negative staphylococcus infection. After antibiotic treatment with vancomycin, the painful ophthalmoplegia completely resolved, and the neurological examination and MRI returned to normal.
CONCLUSION
Some other causes of painful ophthalmoplegia also fulfill the diagnostic criteria for THS in the International Classification of Headache Disorders third edition (ICHD-3) and respond well to steroid therapy. Early diagnosis of THS may be harmful to patients, and clinicians should exercise great caution when dealing with similar cases without a biopsy. Using "cavernous sinus syndrome" instead of "Tolosa-Hunt syndrome" as a diagnostic category may provide a better clinical thinking for etiological diagnosis.
Topics: Humans; Female; Adult; Sphenoid Sinusitis; Magnetic Resonance Imaging; Sinusitis; Ophthalmoplegia; Steroids
PubMed: 36650509
DOI: 10.1186/s12883-023-03067-z -
Journal of Istanbul University Faculty... 2016The aim of this study was to investigate paranasal sinus pathoses detected on cone-beam computed tomography (CBCT) in an adult population.
PURPOSE
The aim of this study was to investigate paranasal sinus pathoses detected on cone-beam computed tomography (CBCT) in an adult population.
PATIENTS AND METHODS
Three observers retrospectively inspected 353 consecutive CBCT scans obtained in a dentomaxillofacial radiology department for paranasal sinus pathoses. Descriptive statistics and chi-square tests were used to determine the prevalence of categorical parameters.
RESULTS
The age of the patients ranged from 18 to 85 years (mean 41.27±16.76). There were 172 (48.7%) females and 181 (51.3%) males. There was a significant difference between the genders (p=0.02), with males (53.5%) having more sinus pathoses than females (46.5%). When the left and right sinuses were considered together, pathoses were most commonly seen in the maxillary sinuses (57.1%), followed by the ethmoid (53.7 %), frontal (22.6%), and sphenoid sinuses (15.8%). Mucosal thickening was the most frequently observed abnormality (51.7%), followed by hypoplasia (17.5%) and sinusitis (17.3%).
CONCLUSION
CBCT is a preferable imaging method for evaluation of paranasal sinuses. Dentomaxillofacial radiologists should examine the whole volume of CBCT images to ensure they do not overlook paranasal sinus pathoses.
PubMed: 28955552
DOI: 10.17096/jiufd.47796 -
Clinical and Experimental... Aug 2022The aim of this study was to evaluate the differences in clinical and laboratory features between eosinophilic chronic rhinosinusitis (ECRS) and non-ECRS and to compare...
OBJECTIVES
The aim of this study was to evaluate the differences in clinical and laboratory features between eosinophilic chronic rhinosinusitis (ECRS) and non-ECRS and to compare diagnostic criteria for ECRS.
METHODS
We compared clinical features and/or laboratory findings classified as ECRS and non-ECRS according to various diagnostic criteria (histological and clinical). We also analyzed studies to compare endoscopic findings, symptom scores, laboratory findings, and computed tomography (CT) findings between ECRS and non-ECRS.
RESULTS
Our search included 55 studies with 6,143 patients. A comparison of clinical features and/or laboratory criteria with histological criteria showed no significant differences in nasal symptom scores and CT scores according to criteria. Serum eosinophil levels showed differences across the criteria, with ECRS consistently characterized by higher serum eosinophil levels than non-ECRS. Among the four criteria, the Japanese Epidemiological Survey of Refractory Eosinophilic Chronic Rhinosinusitis (JESREC) criteria and tissue eosinophilia (≥70) were associated with decreased olfactory function. In laboratory findings, the eosinophil percentage (standardized mean difference [SMD], 1.561; 95% confidence interval [CI], 1.329-1.794; P<0.001) and eosinophil count (SMD, 1.493; 95% CI, 1.134-1.852; P<0.001) of eosinophils were higher in ECRS than non-ECRS. In clinical findings, nasal symptom scores (SMD, 0.382; 95% CI, 0.156-0.608; P<0.001), endoscopic nasal polyp scores (SMD, 0.581; 95% CI, 0.314-0.848; P<0.001), and olfactory dysfunction (SMD, 0.416; 95% CI, 0.037-0.794; P=0.031) were higher in ECRS than in non-ECRS. With regard to CT findings, the whole-sinus opacification score (SMD, 0.824; 95% CI, 0.588-1.059; P<0.001) was higher in ECRS than in non-ECRS. In particular, there were significant differences in anterior ethmoid sinus and sphenoid sinus opacification.
CONCLUSION
ECRS and non-ECRS differ in their clinical and laboratory features. When histological confirmation is difficult on an outpatient basis, ECRS could be diagnosed using clinical features and/or laboratory findings.
PubMed: 35413170
DOI: 10.21053/ceo.2022.00052 -
Annals of Indian Academy of Neurology 2020
PubMed: 32606548
DOI: 10.4103/aian.AIAN_441_19 -
The Permanente Journal 2017Acute invasive fungal rhinosinusitis (AIFRS) is a potentially fatal infection, usually affecting immunocompromised patients. Isolated sphenoid sinus involvement is rare...
INTRODUCTION
Acute invasive fungal rhinosinusitis (AIFRS) is a potentially fatal infection, usually affecting immunocompromised patients. Isolated sphenoid sinus involvement is rare and has been reported in only a few cases. We discuss the clinical characteristics, histopathologic features, and differential diagnosis of AIFRS of the sphenoid sinus.
CASE PRESENTATION
A 57-year-old man with a history of refractory non-Hodgkin lymphoma and neutropenia presented with a 1-week duration of left-sided headache and ipsilateral cheek paresthesia. Nasal endoscopy showed mucoid drainage from the sphenoethmoidal recess. Magnetic resonance imaging demonstrated left sphenoid mucosal thickening and enhancement along the adjacent skull base. The patient underwent endoscopic sinus surgery with extended sphenoidotomy and débridement. The lateral wall and recess of the left sphenoid sinus demonstrated pale mucosa and fungal debris. Pathologic analysis demonstrated necrotic tissue and fungal hyphae with angioinvasion. Microbiology studies isolated Aspergillus fumigatus. The right maxillary sinus contained a synchronous fungal ball, which was removed during surgery; there was no evidence of tissue necrosis or invasive fungus in the maxillary sinus. He was treated with long-term voriconazole therapy, and 6-month follow-up showed disease resolution.
DISCUSSION
AIFRS should be considered in the differential diagnosis of immunocompromised patients with nonspecific sinonasal symptoms. Usually, AIFRS is diffuse with multiple sinus involvement; however, isolated sphenoid AIFRS can occur. This is one of the few cases of AIFRS demonstrating isolated sphenoid involvement and is thought to be the first case showing a synchronous noninvasive fungal ball of another sinus cavity. Prompt recognition and surgical treatment may be curative and lifesaving.
Topics: Aspergillosis; Aspergillus fumigatus; Humans; Male; Middle Aged; Rhinitis; Sinusitis; Sphenoid Sinus
PubMed: 29236649
DOI: 10.7812/TPP/17-032 -
International Archives of... Apr 2015Introduction Isolated disease of the sphenoid is rare and has often been overlooked due to its remote location and difficult access. Objective A retrospective study...
Introduction Isolated disease of the sphenoid is rare and has often been overlooked due to its remote location and difficult access. Objective A retrospective study of the main causes of isolated sphenoid sinus diseases with discussion of the most appropriate methods of diagnosis and treatment. Methods A total of 46 cases of isolated sphenoid disease treated between January 2008 and December 2013 were evaluated by objective ear, nose, and throat examination and video endoscopy, computed tomography of the paranasal sinuses, and, in some cases, magnetic resonance imaging. In each case, we decided between drug and/or endoscopic treatment. Results We identified 12 cases of isolated sphenoiditis (26.1%), 3 cases of fungal sphenoiditis (6.5%), 3 cases of sphenochoanal polyps (6.5%), 22 cases of mucocele (47.8%), 2 cases of cerebrospinal fluid leak (4.3%), and 1 case each of meningoencephalocele (2.1%), inverted papilloma (2.1%), fibrous dysplasia (2.1%), and squamous cell carcinoma (2.1%). Conclusion A prevalence of inflammatory and infectious diseases was found, and endoscopic surgery for the sphenoid sinus approach is effective in treating various diseases of the isolated sphenoid, whether complicated or not.
PubMed: 25992167
DOI: 10.1055/s-0034-1397337 -
Malaysian Family Physician : the... 2019
PubMed: 31289629
DOI: No ID Found -
Indian Journal of Otolaryngology and... Oct 2022To find out the anatomic variations of nose/paranasal sinuses and how they affect the sinuses in chronic rhinosinusitis (CRS). This observational cross-sectional study...
To find out the anatomic variations of nose/paranasal sinuses and how they affect the sinuses in chronic rhinosinusitis (CRS). This observational cross-sectional study included adults with CRS, refractory to optimum medical management, planned for functional endoscopic sinus surgery (FESS). Pre-operative naso-endoscopy and computed tomography (CT) were utilized to estimate the extent of CRS, and to note the anatomic variations of the sinuses. The findings were corroborated within the practical scope of FESS. The anatomic variations were evaluated to establish how they affected the related sinus(es). Most of the 53 patients were young adults presenting with nasal obstruction (77%), discharge (76%) and headache (68%). On diagnostic naso-endoscopy, prominent agger bulge (83% of the nasal sides), prominent uncinate (18%), inferior turbinate hypertrophy (34%), concha bullosa (38%), mucopus and polyp in the middle meatus (51%, 19%; respectively), and gross septal deviation (55%) were noted. The spheno-ethmoid and frontal recesses were predominantly unremarkable. CT revealed inferior turbinate hypertrophy (38% of the nasal sides), agger (100%), and lateralized/collapsed uncinate (8%). Ethmoids and maxillary sinuses were diseased in 50% and 65% respectively, with blocked ostiomeatal complex in 32% and prominent bulla in 48%. Frontal and sphenoid sinuses were least involved (10%, 2%; respectively). Enlarged agger caused maxillary sinusitis (87%), whereas anterior ethmoiditis resulted from enlarged agger (100%), bulla (89%) and frontal cells (51%). Identification of the anatomic variations of the nose/paranasal sinuses through CT and naso-endoscopy (diagnostic, per-operative) is crucial to understand the pattern, extent and severity of the involvement of sinuses in CRS.
PubMed: 36452856
DOI: 10.1007/s12070-020-01975-x -
BMJ Case Reports Jun 2015Isolated sphenoid sinusitis is a rare disorder and may present with complications due to its anatomical location and proximity to the intracranial and orbital contents....
Isolated sphenoid sinusitis is a rare disorder and may present with complications due to its anatomical location and proximity to the intracranial and orbital contents. It is frequently misdiagnosed, because the sphenoid sinus is not visualised adequately with routine sinus radiographs and is not accessible to direct clinical examination. We report a case who presented with hemicranial headache and ipsilateral abducens nerve palsy as the presenting feature of sphenoid sinusitis. The symptoms disappeared within a week of conservative treatment. Sphenoid sinusitis should be kept in the differential diagnosis of isolated sixth cranial nerve palsy, especially in the presence of headache, and all patients should be investigated with CT/MRI brain. Prompt diagnosis and management before intracranial extension can prevent devastating complications.
Topics: Abducens Nerve Diseases; Acute Disease; Adult; Diagnosis, Differential; Headache; Humans; Magnetic Resonance Imaging; Male; Sphenoid Sinus; Sphenoid Sinusitis; Tomography, X-Ray Computed
PubMed: 26055599
DOI: 10.1136/bcr-2015-209408