Sudden Death Due to Neck Paraganglioma: A Pediatric Case Report and Review of the Literature.

Neck paragangliomas are relatively rare neuroendocrine nonsecretory tumors. They are mainly observed among adults and are often asymptomatic, causing a frequent delay in diagnosis. In pediatric cases, neck paragangliomas can be associated with adrenergic symptoms that may lead to complications.A report of a sudden death due to a carotid paraganglioma in a young girl is reported. Autopsy revealed a thoracic arotic dissection and a 4-cm jugulocarotidian mass in the absence of traumatic injuries. Histology showed no evidence of underlying aortic disease, including signs of Marfan syndrome, and a paraganglioma. Postmortem biochemistry analysis showed blood metanephrines levels 100 times higher than normal range. The cause of death was an aortic dissection complicating a neck paraganglioma. The manner of death was concluded as natural.Our case highlighted the importance for forensic pathologist to consider the diagnosis of paraganglioma in case of sudden hypertensive complications, especially among young people.

Papillary thyroid tumors: Diagnostic value of CD56 and Cytokeratin 19.

INTRODUCTION: Noninvasive Follicular Thyroid Neoplasm With Papillary-like Nuclear Features (NIFTP) is a tumor composed exclusively of follicles lined by cells having nuclear characteristics of papillary carcinoma. Morphological diagnosis is often difficult especially in the cases in which these nuclear abnormalities are focal. AIM: To investigate the contribution of the immunohistochemical study with anti CD56 and anti cytokeratin 19 in the positive diagnosis of NIFTP. METHODS: This is a diagnostive, retrospective study of 40 thyroid specimens including 15 NIFTP, 10 classical form papillary carcinoma (CPC) and 15 vesicular adenomas (AV), collected over a period of eighteen months (December 2013-May 2015). RESULTS: Negativity with anti-CD56 was noted in 16 cases: 9 cases of NIFTP and 7 cases of CPC. A diffuse staining was noted in 14 cases of AV. Positivity with anti-Cytokeratin19 was noted in 38 cases: 14 NIFTP, 10 CPC and 14 AV. For the diagnosis of NIFTP, the sensitivity of CD56 was 60% and specificity of 100%. The sensitivity of the Cytokeratin 19 was 93,3 % and specificity of 33,3%. CONCLUSIONS: Considering the good sensitivity and specificity of the CD56, it is possible to apply immunohistochemistry for definitive diagnosis of NIFTP and to differentiate it from adenoma. The cytokeratin 19 does not have a big contribution to distinguish between benign and malignant lesions.

Agressive infection following a dental extraction in a diabetic patient :Rhinocerebral mucormycosis.

Mucormycosis is a rare and acute fungal infection which is frequently lethal, usually observed in non-controlled diabetic patients. The infection usually begins in the nose but it can invade the lung, the digestive tract, and the skin. Rhinocerebral mucormycosis accounts for 40 to 49% of mucormycosis cases. We report the case of a 44-year-old diabetic man, presenting with rhinocerebral mucormycosis. Our patient was treated by an association of amphotericin B and surgical debridement.

Malignant transformation of nasal inverted papilloma into sarcomatoid carcinoma.

A 57 year-old, male presented with a chronic unilateral nasal obstruction and epistaxis. Intranasal endoscopy showed multiple polypoid lesions. The computed tomography exam revealed a heterogeneous mass that occupied the right nasal cavity with osteolysis of the middle and lower cone causing fluid retention of the right maxillary sinus. He underwent resection of these lesions. Pathological examination revealed malignant transformation of nasal inverted papilloma into sarcomatoid carcinoma. This case report highlights the importance of considering malignant transformation in the differential diagnosis of polypoid lesions.

Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity.

Runs of homozygosity (ROHs) are extended genomic regions of homozygous genotypes that record populations' mating patterns in the past. We performed microarray genotyping on 15 individuals from a small isolated Tunisian community. We estimated the individual and population genome-wide level of homozygosity from data on ROH above 0.5 Mb in length. We found a high average number of ROH per individual (48.2). The smallest ROH category (0.5-1.49 Mb) represents 0.93% of the whole genome, while medium-size (1.5-4.99 Mb) and long-size ROH (≥5 Mb) cover 1.18% and 0.95%, respectively. We found that genealogical individual inbreeding coefficients (Fped ) based on three- to four-generation pedigrees are not reliable indicators of the current proportion of genome-wide homozygosity inferred from ROH (FROH ) either for 0.5 or 1.5 Mb ROH length thresholds, while identity-by-descent sharing is a function of shared coancestry. This study emphasizes the effect of reproductive isolation and a prolonged practice of consanguinity that limits the genetic heterogeneity. It also provides evidence of both recent and ancient parental relatedness contribution to the current level of genome-wide homozygosity in the studied population. These findings may be useful for evaluation of long-term effects of inbreeding on human health and for future applications of ROHs in identifying recessive susceptibility genes.

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.].

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.

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.

Ludwig's Angina.

Ludwig's angina is a severe diffuse cellulitis that presents an acute onset and spreads rapidly and bilaterally. It can affect the submandibular, sublingual or submental spaces resulting in a state of emergency. Early diagnosis and urgent management could be a life-saving procedure. We report a case of wide spread sialadenitis infection extending to the neck with trismus and elevation of the floor of the mouth that caused an obstruction of the airway and resulted in an inspiratory dyspnea and a stridor. The patient was directed to maintain the airway by elective tracheostomy. An appropriate use of parenteral antibiotics, airway protection techniques, and potential surgical drainage of the infection remain the standard protocol of treatment in advanced cases of Ludwig's angina. The aim of this case report is to emphasize on the importance of early diagnosis and appropriate management of Ludwig's angina.

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

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.

HLA class I polymorphisms in Tunisian patients with otosclerosis.

BACKGROUND: Otosclerosis is a common form of hearing impairment among Western-Eurasian adults. The cause of otosclerosis remains unknown. Autoimmune reaction against the otic capsule has been suggested as a possible aetiologic factor in otosclerosis. AIM: The present study is the first report to evaluate the relationship between class I major histocompatibility complex (MHC) genes (HLA-A, HLA-B and HLA-Cw) and genetic susceptibility to otosclerosis in Tunisian patients. SUBJECTS AND METHODS: Fifty unrelated Tunisian patients exhibiting clinical otosclerosis were typed for HLA-A, HLA-B and HLA-Cw antigens and compared with 100 ethnically-matched healthy controls. RESULTS: Increased frequencies of HLA-A*03 (OR = 4.16, Pc < 0.043), HLA-B*35 (OR = 2.76, Pc < 0.043) and HLA-Cw*03 (OR = 4.57, Pc < 0.043) antigens were found in the patients with otosclerosis compared with healthy controls. Individuals with HLA-A*30 (OR=0.25, Pc < 0.043), HLA-B*51 (OR = 0.11, Pc < 0.043), HLA-Cw*16 (OR = 0.08, Pc < 0.043) and Cw*06 (OR=0.32, Pc < 0.043) antigens have a protective effect against otosclerosis. CONCLUSIONS: In conclusion, the data suggest that a variation in class I HLA antigens could be a genetic factor involved in susceptibility to otosclerosis in the Tunisian population.

[Cystic hygroma : report of 25 cases]. / Les lymphangiomes kystiques : A propos de 25 cas.

BACKGROUND: The cystic hygroma is a benign lymphatic malformation, a rare but potentially serious in its character and its evolutionary trend dissecans. The head and neck region constitutes the favorite seat (75%). If the diagnosis is usually easy, the therapeutic management remains controversial. AIM: To analyze clinical and paraclinical characteristics of cystic hygroma and to discuss the various therapeutic methods. METHODS: We report a retrospective study about 25 cases of head and neck cystic hygroma collected during a period of 11 years (1998- 2008) in the ENT department of the hospital The Rabta Tunis. RESULTS: The average age of our patients was 18 years and 5 months. All patients consulted for a neck mass. It was localized in the submandibular region in 7 cases, 3 cases in parotid region, jugulocarotid artery in 3 cases and affecting the posterior triangle in 12 cases. Cervical ultrasound was performed in 22 cases (88%) evoking the diagnosis of cystic hygroma in 16 cases (72%). CT was performed in 10 cases finding hypodense aspect in 8 cases. MRI was carried out in 9 cases. It showed the aspect hyperintense T2, hypointense T1 in 7 cases. Surgical excision was performed in 22 cases and sclerotherapy in 3 patients. During the evolution, a recurrence was observed for each treatment modality. CONCLUSION: Surgery is treatment of choice of cystic hygroma. Sclerotherapy may be indicated as an alternative to surgery in localized and diffuse macrocystic forms.

[Intracranial complications of sinusitis]. / Les complications endocrâniennes des sinusites.

BACKGROUND: Intracranial complications of sinusitis are always a subject of actuality. They present diagnostic and therapeutic problems. AIM: To study the clinical characteristics and treatment modalities for intracranial complications of sinusitis while insisting on their severity. METHODS: Retrospective study concerning 7 patients who had intracranial complications secondary to sinusitis. RESULTS: Our study was about 3 men and 4 women. The mean age of patients was 24 years. Neurologic signs were the most common symptoms. The diagnosis was confirmed by CT scan and lumbar puncture. The different complications were empyema in 5 cases and meningitis in 2 cases. Treatment included parenteral antibiotic therapy and surgery. The neurosurgical management has been achieved in 3 cases. Control was obtained in 4 cases, the mean receding was 18 months. CONCLUSION: Intracranial complications of sinusitis must be evoked, especially in cases of febrile headache or facial oedema. CT scan must be realized in slightest doubt. The treatment must be started precociously allowing a cure without after-effects.

[The plunging goiter : about 43 cases]. / Les goîtres plongeants : à propos de 43 cas.

BACKGROUND: The plunging goiter consists in a goiter whose lower limit is not palpable in surgical position. AIM: To study the epidemiologic characteristics, the circumstances of discovery, the clinical signs, and the management of this disease. METHODS: A retrospective study about 43 cases of plunging goiters operated during a period of 14 years in the ENT department of the hospital The Rabta Tunis. RESULTS: The average age of our patients was 59.3 years. On physical examination, goiter was palpable in 41 patients (95.3%). The plunging character of the goiter was noted, at echography, in 26 patients. A cervico-thoracic scanner was performed in 41 patients (95.3%). It helped to confirm the plunging goiter in all patients. These goiters were most frequently pre vascular (73.2%) compared to the innomined venous trunk. The lower limits of the intrathoracic extensions were on the level of the superior vena cava in 4 cases (9.7%), on the level of the left brachio-cephalic venous trunk in 16 cases (39%) and on the level of the aortic arch in 15 cases (36,5%). The cervical incision was sufficient in 39 cases (97.5%) and we used a combined sternotomy in one patient (2.5%). CONCLUSION: The plunging goiter is a thyroid tumour cervical originally descended, then developed, in the mediastinum. A good clinical examination and paraclinical can reach a definite diagnosis and to achieve better surgical.

Non-recurrent laryngeal nerve and arteria lusoria: Rare and little known association.

Non-recurrent Laryngeal nerve is constantly associated with Arteria Lusoria. Knowing this association is the basis of predicting this condition preoperatively. Ultrasonography assessment before thyroid and parathyroid surgery should include identification of brachiocephalic trunk division. Absence of its visualization indicates Arteria Lusoria and then non-recurrent laryngeal nerve.

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.

Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic features, and motor dysfunctions. AM has never been reported in Tunisia. We report here the clinical and genetic study of six patients from two Tunisian families with AM. The AM diagnosis was confirmed by an enzymatic activity assay. Genetic investigation was conducted by Sanger sequencing of the mutational hotspots for the first family and by ES analysis for the second one. In the first family, a frameshift duplication p.(Ser802GlnfsTer129) was identified in the MAN2B1 gene. For the second family, ES analysis led to the identification of a missense mutation p.(Arg229Trp) in the MAN2B1 gene in four affected family members. The p.(Ser802GlnfsTer129) mutation induces a premature termination codon which may trigger RNA degradation by the NMD system. The decrease in the levels of MAN2B1 synthesis could explain the severe phenotype observed in the index case. According to the literature, the p.(Arg229Trp) missense variant does not have an impact on MAN2B1 maturation and transportation, which correlates with a moderate clinical sub-type. To explain the intra-familial variability of cognitive impairment, exome analysis allowed the identification of two likely pathogenic variants in GHR and SLC19A3 genes potentially associated to cognitive decline. The present study raises awareness about underdiagnosis of AM in the region that deprives patients from accessing adequate care. Indeed, early diagnosis is critical in order to prevent disease progression and to propose enzyme replacement therapy.

Chondrosarcoma of sinonasal cavity: a case report and brief literature review.

BACKGROUND: Chondrosarcomas are slow-growing malignant tumors that usually arise from cartilaginous structures. It may occur in the head and neck region with a predilection for the maxillofacial skeleton, where it has been reported to occur particularly in the mandible and maxilla. Chondrosarcoma of the sinonasal tract is very rare. AIM: Report a new case CASE: We present the case of a 43-year-old man presenting with an incidental finding of a chondrosarcoma of the maxillary and ethmoid sinus with nasal extension. The tumor was completely resected using a transnasal endoscopic approach. Treatment has followed by a radiation therapy and the patient was considered free of disease at her 5 years follow-up. CONCLUSION: Surgery is the mainstay treatment of chondrosarcomas. In selected patients, complete resection can be achieved using transnasal endoscopic approach.