Ectopic thyroid tissue: unusual differential diagnosis of cervical paraganglioma

Ectopic thyroid tissue (ETT) lateral to the midline is rare. Its occurrence in the carotid bifurcation is exceptional. We present a 45 years woman who consulted with a slow growing right cervical swelling. Clinical examination Ultrasonography, contrast enhanced CT and cervical MRI concluded to a paraganglioma. Intra-operatively, the tumor didn't have the characteristic aspect of a paraganglioma. Complete excision was performed. Histology concluded to an ectopic micro-vesicular thyroid adenoma.Previous literature was reviewed to summarize clinical and radiologic characteristics of such rare entity. Despite its rarity, ETT must be included in the differential diagnosis of cervical paraganglioma.Keywords: Ectopic thyroid, MRI, paraganglioma, surger

Mucocele zatoki klinowej – rzadka zmiana, o której warto pamiętać

Izolowane mucocele zatoki klinowej (SSM, ang. sphenoid sinus mucocele) to rzadka zmiana chorobowa, która – w przypadku zbyt późnego rozpoznania lub leczenia – wiąże się z poważnymi następstwami. Najczęściej jest ona bezobjawowa i wykrywana przypadkowo podczas tomografii komputerowej lub rezonansu magnetycznego okolicy szczękowo-twarzowej, wykonywanych z powodu innych zmian chorobowych. W niniejszej pracy opisano przypadek izolowanego śluzowiaka zatoki klinowej, którego jedynym objawem był utrzymujący się przez ponad rok ból głowy, a także dokonano przeglądu literatury na temat chirurgicznych metod leczenia mucocele

Mucocele of the sphenoid sinus: a rare entity to keep in mind

Isolated sphenoid sinus mucocele (SSM) is a rare entity that can result in serious sequelae if diagnosis and treatment are inappropriately delayed. Typically, mucoceles are asymptomatic, and they are accidentally identified after computed tomography scan or magnetic resonance imaging of the maxillofacial area performed for other pathological issues. We report a case of isolated SSM that presented only with a headache for over a year, and also review the literature regarding surgical management of such an entity

Head and neck tuberculosis associated to sarcoidosis: A case report

The distinction between tuberculosis and sarcoidosis presents sometimes a clinical challenge. Their sequential occurrence in the same patient is uncommon. We present the case of a 42-year-old female with a proven diagnosis of tuberculous lymphadenitis who has developed successively nasal tuberculosis and pulmonary sarcoidosis respectively after 10 and 14 months of antituberculosis treatment.The patient presented with bilateral cervical lymphadenopathy. Tuberculin skin test was negative. Chest radiography was normal. An excision biopsy was taken and histopathological examination established tuberculosis diagnosis. Therapy with antituberculosis drugs was started, and cervical lymphadenopathy showed progressive resolution. Subsequently, nearly 10 months after, the patient developed new cervical lymphadenopathies and nasal obstruction. Tuberculosis of the nasal mucosa was confirmed by biopsy. Antituberclosis bitherapy was enhanced by ofloxacin and ethambutol. Thoracic CT scan showed several nodular elements in both lungs, with bilateral enlarged mediastinal adenopathy. Bronchoalveolar lavage showed a lymphocytic alveolitis with a CD4/CD8 ratio of 5, consistent with the diagnosis of pulmonary sarcoidosis. Corticosteroid treatment, in form of oral prednisolone was introduced, 3 months after sarcoidosis diagnosis have been setteled; because of pulmonary fibrosis noticed on thoracic CT. Systemic corticotherapy was continued for a further period of 3 years, until all the lesions cleared out. The present case emphasizes the possible association between tuberculosis and sarcoidosis

Paraganglioma of the carotid body: Report of 26 patients and review of the literature

Introduction: Paragangliomas are extra-adrenal tumors originating from the neuro-ectoderm, occurring from the skull base to the pelvic floor. In the head and neck region, they are found at the jugular bulb, the vagal and tympanic nerves and the aortic glomus. Objectives: The aim of the present study was to review clinical profile, treatment outcomes and long-term follow-up in patients with paragangliomas of the carotid body. Materials and methods: It is about a retrospective study of 26 patients (28 paragangliomas) followed and treated in Ear, Nose and Throat Department of La Rabta Hospital. Pre-, intra- and postoperative findings were analyzed. Results: The present study included 6 men and 20 women. Bilateral involvement of the carotid glomus was noted in 2 cases and tympano-jugular location was associated in 2 other cases. Ultrasound of the neck, computed tomography (CT) and magnetic resonance (MR) tomography were performed in 13, 17 and 10 cases, respectively. 2 patients have had preoperative embolization and 22 patients, in total, were operated. External radiation was an exclusive therapeutic option in 2 patients and adjuvant to incomplete surgery in one patient. Only one case of malignant paraganglioma was noted that evolution was, in fact, rapidly fatal

Paradoxical reaction associated with cervical lymph node tuberculosis: predictive factors and therapeutic management

Objectives: The aims of this study were to determine predictive factors of paradoxical reaction in patients with cervical lymph node tuberculosis (TB) and to discuss the therapeutic management of this condition. Materials and methods: A retrospective study was performed of 501 patients managed for cervical lymph node TB over a period of 12 years (from January 2000 to December 2011). Statistical data were analyzed using IBM SPSS Statistics version 20.0. Results: Paradoxical reaction occurred in 67 patients (13.4%), with a median delay to onset after starting TB treatment of 7 months. Lymph node size ≥3 cm and associated extra-lymph node TB were independently associated with paradoxical reaction. Treatment consisted of surgical excision (71.6%), restarting quadruple therapy (10.4%), reintroduction of ethambutol (23.8%), and addition of ciprofloxacin (20.8%); steroids were given in two cases . All patients recovered after an average treatment duration of 14.91 ± 7.03 months. Conclusion: The occurrence of paradoxical reaction in cervical lymph node TB seems to be predicted by associated extra-lymph node TB and a swelling size ≥3 cm. The treatment of paradoxical reaction remains unclear and more randomized trials are necessary to improve its management

Diagnostic performance of the EU TI‐RADS and ACR TI‐RADS scoring systems in predicting thyroid malignancy

Abstract Introduction Several ultrasound scoring systems have been developed to stratify the risk of malignancy of thyroid nodules, including ACR (American College of Radiology) and EU (European) TI‐RADS. This study aimed to assess the diagnostic performance of these two classifications using histology as a reference standard. Methods It was a single‐centre, retrospective study including 156 patients who underwent thyroidectomy. Ultrasound data of 198 nodules (99 malignant nodules and 99 benign nodules) were analysed. Both classifications were applied for all nodules. Results Ultrasound criteria associated with malignancy were solid composition (OR=7.81; p < 10−3), hypoechoic character (OR=16.42; p < 10−3), irregular contours (OR=7.47; p < 10−3), taller‐than‐wide shape (OR=3.58; p = 0.02), microcalcifications (OR=3.02; p = .006) and the presence of cervical adenopathy (OR=3.89; p = .006). The prevalence of malignancy was 15.5%, 69% and 76.9% for EU TI‐RADS categories 3, 4 and 5, respectively. It was 33.3%, 57% and 91.1% for ACR TI‐RADS categories 3, 4 and 5, respectively. For category 5, EU TI‐RADS and ACR TI‐RADS had sensitivities of 60% and 41%, specificities of 82% and 96%, respectively. For categories 4 and 5 combined, the diagnostic performance of these two classification systems became comparable with a sensitivity of 89% and 86% for EU‐TIRADS and ACR‐TIRADS, respectively. The area under the ROC curve was 0.81 for the EU TI‐RADS classification and 0.82 for the ACR TI‐RADS classification. Conclusions EU TI‐RADS and ACR TI‐RADS scoring systems seem to be comparable in predicting malignancy in thyroid nodules

Salivary gland cystadenocarcinoma of the tongue: A case report and literature review

Cystadenocarcinoma is a rare salivary gland tumor which commonly arises in the ovary and the appendix. Only 7 cases have been reported in the tongue with 2 cases described as highly malignant. We report a case of cystadenocarcinoma of the base of the tongue in a 79-year-old man who presented with goiter and dysphagia. Physical examination showed a mass of the tongue. Treatment consisted in a partial glossectomy. The patient was free of recurrences after one year of follow up. Cystadenocarcinoma of the tongue is a very rare tumor on which diagnosis is based on histological findings. The treatment is based on surgical excision. These tumours are reported to have a good prognosis but some cases have been described reported to recur even after many years of follow up. Key words: Cystadenocarcinoma, base of the tongue

Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.

International audienceOBJECTIVES: Mutations of GJB2 encoding connexin 26 are the most common cause of hearing loss. They are responsible for up to 50% of ARNSHL. The pathogenic mutations in this gene are generally inherited recessively. Dominant mutations in GJB2 also cause hearing loss, either in isolated non-syndromic form or as part of a syndrome associated with various skin disorders. METHODS: We screened a Tunisian child affected by congenital, bilateral, profound, sensorineural hearing loss for mutations in GJB2 gene using PCR and direct sequencing. RESULTS: The proband was found to be compound heterozygous for recessive and dominant GJB2 mutations respectively p.V37I (c.109G>A) and p.R143Q (c.428G>A). Surprisingly the hearing mother is a carrier for this dominant GJB2 mutation. This proband underwent a cochlear implant at four years old. The evaluation using APCEI and IT-MAIS tests at six months post implantation indicates a successful cochlear implant outcome since the deaf child began to acquire language abilities and auditory sensation. CONCLUSIONS: The p.R143Q mutation was described for the first time in Tunisia. We confirm the low penetrance of this mutation since the proband mother is a carrier despite her normal hearing. We show the effectiveness of cochlear implant to restore the communication abilities and auditory sensation for our patient

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.

International audienceOBJECTIVES: Mutations in GJB2 are found to be responsible for 50% of congenital autosomal recessive non-syndromic hearing loss, one of the most important mutations in this gene is the c.35delG, which is responsible for the majority of GJB2 related deafness in the Tunisian population. The aim of this study was to determine the molecular etiology of hearing loss in two Tunisian individuals. METHODS: We screened two Tunisian individuals affected by congenital, bilateral, profound, sensorineural hearing loss for mutations in GJB2 gene using PCR and direct sequencing. RESULTS: We identified a novel frameshift mutation in the GJB2 gene, the c.405delC resulting in a truncated protein (p.Tyr136Thrfs*32). It was found in compound heterozygosity with the c.35delG in two non-consanguineous unrelated families from Tunisia. One patient underwent a cochlear implant at 4 years. Initial evaluations post-implantation indicate a successful cochlear implant outcome since the patient began to acquire language abilities and auditory sensation. CONCLUSIONS: With this novel GJB2 mutation, the mutational spectrum of this gene continues to broaden in our population. The occurrence of biallelic GJB2 mutations for the other deaf girl, despite the neonatal pain and hypotension due to complicated delivery, led us to confirm the importance of GJB2 screening for cochlear implant candidates regardless of the etiology of deafness in populations with a relatively high frequency of GJB2 mutation carriers