Laryngotracheal trauma-induced Macklin effect: A case report.

Laryngotracheal trauma is a relatively rare traumatic injury seen particularly in young male adults. Trauma due to strangulation is one of its most frequent circumstances. However rare, pneumomediastinum is a particular complication of severe blunt neck injuries leading to alveolar ruptures. This phenomenon, described as the Macklin effect, requires early diagnosis, and its management varies from conservative to surgical treatment depending on the severity of symptoms. Our aim is to describe the case of a 21-year-old male who presented with blunt neck trauma. Clinical and imaging findings revealed subcutaneous neck emphysema and pneumomediastinum. Treatment was conservative leading to complete resolution of the injuries and the patient was discharged after 2 weeks.

Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

[This corrects the article DOI: 10.3389/fgene.2024.1384094.].

Respiratory epithelial adenomatoid hamartoma: A rare differential diagnosis of sinonasal mass.

Sino-nasal respiratory epithelial adenomatoid hamartomas (REAHs) are rare entity. They are benign tumors with excellent results after complete excision. We report a case of a 57-year-old male with a history of endoscopic surgery for right nasal polyps 20 years ago. The patient presented nasal obstruction that persisted for 10 years without anosmia nor epistaxis. Nasal endoscopy found a tissular mass filling the right nasal cavity extending to the nasopharynx. CT scan and MRI demonstrated soft tissue opacification of the right maxillary sinus and the homolateral anterior ethmoid cells with extension to the nasal cavity. The suspected diagnosis on imaging was an Inverted papilloma with a wide implantation base on the posterior part of the nasal septum. No endocranial or orbital extension was noted. The patient underwent endoscopic sinus surgery with complete extirpation of the tumor and a right ethmoidectomy. Histopathological assessment showed features consistent with REAH. No recurrence was noted at 1 year follow-up.

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic etiologies. In Tunisia, HI underdiagnosis prevails, primarily due to limited access to comprehensive clinical tools, particularly for syndromic deafness (SD), characterized by clinical and genetic heterogeneity. This study aimed to uncover the SD spectrum through a 14-year investigation of a Tunisian cohort encompassing over 700 patients from four referral centers (2007-2021). Employing Sanger sequencing, Targeted Panel Gene Sequencing, and Whole Exome Sequencing, genetic analysis in 30 SD patients identified diagnoses such as Usher syndrome, Waardenburg syndrome, cranio-facial-hand-deafness syndrome, and H syndrome. This latter is a rare genodermatosis characterized by HI, hyperpigmentation, hypertrichosis, and systemic manifestations. A meta-analysis integrating our findings with existing data revealed that nearly 50% of Tunisian SD cases corresponded to rare inherited metabolic disorders. Distinguishing between non-syndromic and syndromic HI poses a challenge, where the age of onset and progression of features significantly impact accurate diagnoses. Despite advancements in local genetic characterization capabilities, certain ultra-rare forms of SD remain underdiagnosed. This research contributes critical insights to inform molecular diagnosis approaches for SD in Tunisia and the broader North-African region, thereby facilitating informed decision-making in clinical practice.

Pleomorphic adenoma of the parotid gland concomitant with tuberculosis infection: A case report and review of the literature.

Tuberculosis of the salivary glands and particularly of the parotid gland is a localization that remains rare even in endemic countries. The association of intra parotid tuberculosis with a benign tumor has been found only in rare cases in literature. A 50-year-old woman with a history of normal pressure hydrocephalus treated surgically, non-smoker, presented with a right parotid swelling progressively increasing in size for 3 years. Clinical examination revealed a 4 cm long, firm, mobile, painless parotid swelling without inflammatory signs and without accessory lymphadenopathy. The oropharyngeal examination was without abnormalities. Ultrasound showed a mass of 31 × 27 mm suggesting a pleomorphic adenoma. MRI confirmed the suspicion of a pleomorphic adenoma of both lobes. The patient underwent a conservative total parotidectomy. The extemporaneous examination was in favor of a pleomorphic adenoma while the final pathology showed the coexistence of active tuberculosis lesions. The patient was put on long-term antituberculosis treatment with good clinical evolution. The clinical presentation of parotid tuberculosis is nonspecific mimicking any other tumor and the diagnosis can only be made by histological examination. Therapeutic management is based on long-term antituberculosis treatment.

Acute Painful Horner's Syndrome Revealing Eagle's Syndrome: A Report of Two Cases.

Eagle's syndrome (ES) is characterised by an abnormally elongated styloid process. It remains a complex pathology and the ophthalmological symptoms are relatively rare. Herein, we report two cases who presented to our clinic with unilateral and painful Horner's syndrome. Computed tomography scanning showed the presence of ES with unilateral extrinsic compression of the sympathetic plexus by the styloid.

Intranodal Palisaded Myofibroblastoma in a Submandibular Lymph Node.

Intranodal palisaded myofibroblastoma (IPM), also known as "intranodal hemorrhagic spindle cell tumor with amianthoid fibers," is a rare benign mesenchymal tumor originating from smooth muscle cells and myofibroblasts, often with the presence of amianthoid fibers. Usually IPM affects inguinal lymph nodes, but three cases have been described in the submandibular and cervical lymph nodes. We report a new case of a 44-year-old women with submandibular mass. Cervical ultrasound showed a suspect right submandibular adenomegaly. The patient underwent an excision of the submandibular mass. Histological features of the tumor include an encapsulated fusocellular proliferation, with nuclear palisading, amianthoid fibers, hemosiderin pigment, and extravasated erythrocytes. In the light of these results, we made the diagnosis of IPM. No recurrence was found 5 years after surgery.

A new preprocessing parameter estimation based on geodesic active contour model for automatic vestibular neuritis diagnosis.

The diagnostic of the vestibular neuritis (VN) presents many difficulties to traditional assessment methods This paper deals with a fully automatic VN diagnostic system based on nystagmus parameter estimation using a pupil detection algorithm. A geodesic active contour model is implemented to find an accurate segmentation region of the pupil. Hence, the novelty of the proposed algorithm is to speed up the standard segmentation by using a specific mask located on the region of interest. This allows a drastically computing time reduction and a great performance and accuracy of the obtained results. After using this fast segmentation algorithm, the obtained estimated parameters are represented in temporal and frequency settings. A useful principal component analysis (PCA) selection procedure is then applied to obtain a reduced number of estimated parameters which are used to train a multi neural network (MNN). Experimental results on 90 eye movement videos show the effectiveness and the accuracy of the proposed estimation algorithm versus previous work.

Extracranial head and neck neurogenic tumors: report of 47 cases.

UNLABELLED: Extracranial head and neck neurogenic tumors are rare and usually revealed by histological examination. The aim of this study was to review the clinical, radiological and therapeutic particularities of these tumors. METHODS: This retrospective study concerns 47 patients with neurogenic tumors of the head and neck, operated on between 1989 and 2011 (22 years period). All patients had complete physical examination and ultrasonography was performed when a cervical extension was found. CT scan and MRI were performed in 16 cases. Minimum follow up was 4 years. RESULTS:   A sinusonasal tumor was found in 9 cases and a cervical mass was seen in 28 cases. Parapharyngeal extension was observed in two cases. Two patients had tympano-jugular glomic tumors and 8 of them had a cervical soft tissue tumor. Complete surgical resection was performed in 46 patients. Histological examination revealed a benign tumor in 91% of cases (n=43), 24 of them were schwannomas. Malignant tumors were seen in 4 cases: esthesioneuroblastoma (3 cases) and malignant schwannoma (1 case). These patients received post operative radiotherapy. After surgery, two patients had Claude Bernard Horner syndrome and one had a definitive facial nerve palsy. CONCLUSION: Extracranial head and neck neurogenic tumors may have several aspects depending on their localisation and their histological type. Surgery, when performed, should be complete with minimum complications.

Management of foreign bodies in the aerodigestive tract.

Foreign body (FB) aspiration and ingestion are frequently encountered by emergent otolaryngology services. The authors describe their experience in the management of FB cases in the aerodigestive tract. We carry a retrospective study about 626 patients who came or were referred to our department between 1996 and 2007 with a history or suspicion of a FB in the aerodigestive tract (except nasal and oropharyngeal FB). All of them have undergone rigid endoscopy under general anaesthesia. Children younger than 10 years were the most involved (36.9%) followed by patients between 71 and 80 years old (11.3%). The FB were visible on clinical examination in 39 cases. Chest and neck X-ray, showed radio-opaque FB in 302 cases (48.7%). A total of 626 rigid endoscopies were performed. FB were encountered in 549 patients (87.7%). The most involved sites were the oesophagus (51.9%) followed by the tracheobronchial tree (33.9%) and the hypopharynx (13.5%). Bones (22%) and coins (20.1%) were the most frequently encountered FB. Successful removal was achieved in 521 cases (94.9% of the FB found). The complication rate after rigid endoscopy was 1.3%. FB in the aerodigestive tract are frequent and may lead to severe complications. Removal through the rigid endoscope still has its place as the most reliable method. Prevention and public education for this serious problem should be considered.

Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.

Xeroderma Pigmentosum (XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm linkage to XPC gene, genotyping and direct sequencing of XPC gene were performed. Pathogenic effect of novel mutations was confirmed by reverse Transciptase PCR. Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in the XPC gene (NG_011763.1). The first is present in one patient XP50NEF, but the second is present in three unrelated patients (XP16KEB, XP28SFA, and XP45GB). These 3 patients are from three different cities of Southern Tunisia and bear the same haplotype, suggesting a founder effect. Reverse Transciptase PCR revealed the absence of the XPC mRNA. In Tunisia, as observed in an other severe genodermatosis, the mutational spectrum of XP-C group seems to be homogeneous with some clusters of heterogeneity that should be taken into account to improve molecular diagnosis of this disease.

[Sinonasal inverted papilloma: 43 cases]. / Le papillome inversé nasosinusien : 43 cas.

PURPOSE: Inverted papilloma (IP) is a common epithelial tumor arising from the nasal vault. The aim of our study was to evaluate the advantages, the results and the limits in the treatment of this tumor. PATIENTS AND METHOD: Retrospective study of 43 patients over the period 1989-2009. RESULTS: The mean age was 53.3 years. We found a maxillary sinus extension in 40 cases and ethmoidal extension in 27 cases. Twenty-nine patients were treated through an endoscopic endonasal approach. A vestibular approach was used in three patients. A paralateral nasal approach was used for 12 cases. We observed a recurrence in 9.3% of the all cases. CONCLUSION: The treatment of IP is surgical. Their high potential of local aggressiveness, fear of recurrence and the possibility of the occurrence of a malignancy require radical treatment.

[Neonatal hearing screening with transient otoacoustic emissions: pilot study]. / Dépistage systématique de la surdité en maternité par Oto-Emissions Acoustiques Provoquées (O.T.E.A.P): Etude pilote.

BACKGROUND: Bilateral hearing loss is present in 1-3 per 1000 newborn infants, and in 2-4 per 100 infants in the intensive care unit population. All infants with hearing loss should be identified before 3 months of age and receives intervention by 6 months. If undetected, this will impede speech, language, and cognitive development. In Tunisia, we do not have an exhaustive information on the real importance of the auditive handicap. The aim of our study was to evaluate the feasibility and the practical aspects of a pilot tunisian universal neonatal hearing screening (UNHS) program based on transient evoked otoacoustic emission reporting the incidence of hearing impairment in this population. METHODS: A prospective study during one year (01/05/2006 to the 30/04/2007). Transient evoked otoacoustic emission was planned for all live births. If the test could not be practised in maternity or that research was negative, an appointment was delivered for a research of the O.T.E.A.P in an interval of 1 week - 1 month. Infants who did not meet TEOAE pass criteria underwent diagnostic auditory brainstem response (ABR) testing. RESULTS: During the study period, 3342 live births were recorded, 3260 were included. Total coverage rate was of 41% (1333/3260). We recorded 3 cases of bilateral hearing loss (0.9 per thousand screened infants) and 5 with unilateral sensorineural hearing loss (1.5 per thousand screened infants). CONCLUSION: The incidence of congenital hearing loss in our population seems relatively high. Hearing screening for all neonates using transient evoked otoacoustic emission is feasible but several practical aspects should be revised.

Necrotizing otitis externa: 19 cases' report.

Necrotizing otitis externa is an uncommon but severe infectious disease of the external auditory canal. Patients at risk are those immunodepressed or having diabetes. The causal germ is often Pseudomonas aeruginosa. Over a period of 10 years (1997-2006), we treated 19 patients: 94.7% had diabetes (insulin dependent in 6 cases). The causal germ was P. aeruginosa in 59% of cases. The pretherapeutic work-up included a computed tomography and a scintigraphy practiced in order to confirm diagnosis and assess the extension. Medical treatment was based on a parenteral antibiotic therapy using a third-generation cephalosporin and a fluoroquinolones. Local treatment of the auditory canal including cleaning and application of antimicrobial agents was performed in all the cases. Surgical debridement of soft tissue and infected bone was performed in one patient who did not respond to medical management. Repeated scintigraphies with gallium were used to follow the course under treatment in only three cases. We had a 89.4% cure rate with only three cases of recurrence. We reviewed the data in the literature on necrotizing otitis externa and present the important diagnostic, imaging, and therapeutic aspects of the disease.

[Recurrent upper respiratory tract infections in children and allergy. A cross-sectional study of 100 cases]. / Infections recidivantes des voies aeriennes superieures de l'enfant et allergie. Etude transversale à propos de 100 cas.

BACKGROUND: Upper respiratory tract (URT) infections are common in children. The knowledge of their risk factors allows in some cases better management. The aim of our study is to evaluate the role of allergy in this pathology. METHODS: Through a cross-sectional study about 100 children having recurrent URT infections, we evaluated the prevalence of allergy in order to find a relation between the two pathologies in general, and between allergy and each recurrent pathology. The results were compared with those of a reference group involving 164 children. RESULTS: Our study confirms a statistically significant association between allergy and recurrent URT infections (p=0.01), also between allergy and rhinopharyngitis (p=0.02), rhinosinusitis (p=0.001) and acute otitis media (p=0.01). CONCLUSION: Allergy represents a risk factor for recurrent URT infections, particularly for rhinopharyngitis, rhinosinusitis and acute otitis media. Adequate management of allergy may consequently be beneficial for the treatment and the prevention of these infections.

[Plummer Vinson syndrome]. / Syndrome de Plummer Vinson.

BACKGROUND: Plummer Vinson syndrome is a rare affection which affects mainly white women. It is characterized by dysphagia, iron deficiency and the presence of superior esophageal web. AIM: The purpose of this study is to precise the epidemiological, clinical, paraclinical and therapeutical features of the affection. METHODS: We report 19 cases of Plummer Vinson syndrome collected over 15 years (1990- 2004). RESULTS: Dysphagia is the main symptom observed in 100% of the cases. 89.4% of the patients had anemia and 15 hyposideremy. All the patients were treated with iron supplementation and endoscopic treatment (dilatation and rupture of esophageal webs). Three patients necessitate multiple sessions of endoscopic dilatation and 15 had favourable evolution. The malignancy was observed in one case.

[Chronic laryngitis in adults]. / Les laryngites chroniques de l'adulte.

BACKGROUND: Chronic laryngitis is a lingering inflammation of the laryngeal mucosa, caused by specific aetiology and often irritative factors. AIM: To discuss clinic and therapeutic aspects of the pathology. METHODS: We report a retrospective stuy about 25 patients treated and followed for non specific chronic laryngitis over a period of 11 years (1994-2004). RESULTS: The average age of the patients was 54.2 years. Tobacco intoxication was noted in 72.7 of cases and Gastroesophageal reflux in 2 cases. The endoscopic examination of laryngeal lesions, realised in all cases, notes laryngeal keratosis in 88% of cases and congestive laryngitis in 12%. Histological analysis of the lesions reveals a dysplasia in 44% of cases. Clinical and endoscopic follow up of the patients discover malignant development in 5 patients. CONCLUSION: The treatment of chronic laryngitis is based on the suppression of etiologic factors and on laryngeal microsurgery with micro instruments and with laser techniques.

[Idiopathic sudden sensorineural hearing loss. What's the appropriate management?]. / La surdite brusque. Quelle prise en charge therapeutique?

BACKGROUND: Sudden sensorineural hearing loss remains a challenge in otology. Controverses affect mainly etiopathogeny and treatment. AIM: To evaluate our experience in the diagnosis and the treatment of sudden hearing loss METHODS: We report a retrospective study, including 30 patients presenting a Sudden sensorineural hearing loss. All patients were hospitalized for treatment. The audiometry evaluated the hearing deafness before and after treatment. RESULTS: The average age was of 48 years. In all the cases no etiology has been found. All The patients were hospitalized and corticotherapy was administrated in all cases. It was associated to hyperbare oxygenotherapy in 7 patients. Recovery was observed mainly in patients with moderate (71.4%) and severe hearing deficiency (69.2%). CONCLUSION: Corticosteroids are the less controversed treatment of sudden sensorineural hearing loss.

[CT findings in otosclerosis. A series of 11 cases]. / Apport de la TDM dans l'otospongiose: A propos de 11 cas.

INTRODUCTION: Our study's aim is to evaluate the reliability of computed tomography in diagnosis, extension and post-surgical follow-up of otosclerosis. PATIENTS AND METHODS: A group of 11 patients was examined during a period of 25 months from 2002 to 2004. All of them had clinically and audiometrically suspected otosclerosis with bilateral conductive hear loss in 7 cases (3 had surgical management), unilateral in 2, and mixed earing loss in 2. High resolution CT was performed once in 8 patients and twice in the 3 operated. RESULTS: CT showed otosclerosis foci in all our study's patients, which was bilateral in 9 and unilateral in 2. The extension of the lesions varied from type IA to type 4B according to the otosclerosis staging. CONCLUSION: Computed tomography is, so far, the most efficient imaging modality in otosclerosis, showing otosclerosis foci when the clinical features are doubtful, allowing an accurate extension of the lesions and detecting complications during post-surgical follow-up.