Pedro Montalvão

Tumores del espacio parafaríngeo. Nuestra experiencia-i.p.o. francisco gentil-lisboa

Primary parapharyngeal space tumours are rare, representing only a 0.5% of head and neck neoplasms. the authors report a case series review of 38 patients with parapharyngeal tumours who underwent surgical excision between 1975 and 1998. twenty-six of them were female (68%) and twelve male (32%). thirty-three tumours (87%) were benign and five (13%) were malignant being the pleomorphic adenoma the most common neoplasm (39%). all patients were treated surgically: the trans-cervical approach was used in 19 cases, cervical-parotid in 5, the trans-parotid approach in 7 patients, transoral in 5, the cervical-parotid approach with mandibulectomy in 2 and the combined transoral-cervical approach in 1 case. out of the 33 patients with benign neoplasms, 1 (a pleomorphic adenoma treated through a transoral approach) had a recurrence. amongst the 5 with malignant disease, recurrence or persistent local tumour was seen in 4 cases; and of these, 3 with persistent local tumour after incomplete excision died

Lyme disease: sudden hearing loss as the sole presentation

BACKGROUND Lyme disease is an uncommon tick-borne multisystemic infection caused by Borrelia burgdorferi. The most common clinical manifestation is erythema migrans. In this report, a very unusual presentation of this condition is described, in which sudden onset sensorineural hearing loss was the sole presenting symptom. METHODS Case report and review of English-language literature. RESULTS A patient presented with sensorineural hearing loss, with no other symptoms or signs. Acute Lyme infection was detected by laboratory tests. Magnetic resonance imaging showed signs of labyrinthitis of the same inner ear. After hyperbaric oxygen and systemic antibiotic treatment, the patient showed total hearing recovery, and magnetic resonance imaging showed complete resolution of the labyrinthitis. CONCLUSION To our knowledge, this is the first reported case of Lyme disease presenting only with sensorineural hearing loss. Borreliosis should be considered as an aetiological factor in sensorineural hearing loss. Adequate treatment may provide total recovery and prevent more severe forms of Lyme disease.

Identification of three new variants of SDHx genes in a cohort of Portuguese patients with extra-adrenal paragangliomas

Background: Extra-adrenal paragangliomas (PGL) are rare neoplasms occurring in sporadic and familial forms, the latter mostly in association with germline mutations of SDHB, SDHC or SDHD genes. Aim: Characterize frequency and spectrum of germline mutations among a cohort of Portuguese patients with extra-adrenal PGL. Design: Molecular and clinical data were reviewed on 44 patients referred for genetic testing by a single laboratory. Results: Genetic analysis identified 11 patients with head and neck PGL (30.6%) positive for SDHx gene mutations (6 SDHD, 4 SDHB, 1 SDHC) and 4 patients with abdominal or pelvic PGL (50%) positive for SDHx gene mutations (4 SDHB). Large deletions made up about 20% of the mutations detected. Mutation carriers were younger and more frequently had multiple or malignant PGL than patients without mutations. Only 11 % of the head and neck PGL were secretory. In contrast, 100% of the abdominal or pelvic PGL were secretory. Five patients had a malignant PGL (4 SDHB, 1 apparently sporadic). Three novel mutations were identified: two in the SDHD gene (c.411delT [p.Leu139PhefsX29] and c.371_390del20insGG [p.Ala124_Ala130delinsGly]), one in the SDHB gene (c.49A>G [p.Thr17Ala]). The SDHD variant c.411 delT [p.Leu139PhefsX29] was present in 3 apparently unrelated patients. Molecular genetic testing of 22 relatives disclosed 16 mutation carriers. Conclusions: Genetic analysis identified 15 patients (34.1%) and 16 at-risk individuals (72.7%) positive for SDHx gene mutations. The finding of three novel mutations broadens the mutational profile of the mitochondrial complex II succinate dehydrogenase genes reported in other large European series of patients with paragangliomas. Further studies are needed to clarify whether the high frequency of the SDHD variant c.411 delT [p.Leu139PhefsX29] corresponds to a founder mutation.

Microcarcinoma Papilar da Tiroideia - Relato de Caso: Nódulo Tiroideu Acidental - do Diagnóstico ao Tratamento

Thyroid nodules are very frequent on clinical daily basis, and ruling out malignancy, which may play the part in up to 4% a 6.5% of cases, represents their main clinical interest.Evaluating a thyroid nodule will depend on clinical as well as ultrasonography characteristics that will further determine which nodules should undergo fine needle aspiration – cytological result (1 out of 6 possibilities according to Bethesda system) will be the main determinant of therapeutic choice.This is a case report about the evaluation of an incidental thyroid nodule that is cytological indeterminate (follicular lesion of undetermined significance) which proved to be a papillary thyroid microcarcinoma.

Carcinoma de Células Acinares da Parótida: Caso Clínico

We present a case of a parotid tumor – acinic cell carcinoma – involving the superficial and deep lobe, surgically treated with total parotidectomy and then submitted to local and cervical radiotherapy. We have chosen this case due to the fact that the tumor involved both the superficial and deep lobe, without involving the facial nerve. This putted a bigger surgical challenge, which was the removal of the tumor and the gland preserving the nerve and its branches.At CUF Descobertas Hospital, the treatment of patients with head and neck cancer is assured by the multidisciplinary collaboration of Otorhinolaryngology, Haemato-Oncology and Radiotherapy departments. Salivary glands tumors are one example, as is the case presented. Received: 02/05/2017 - Accepted: 29/08/2017

Clinical usefulness of 68Ga-DOTA-NOC PET/CT in staging a vagal paraganglioma associated with a novel SDHB mutation

Paragangliomas are rare tumours arising from the autonomic nervous system. Most are benign, however, a few are malignant. The diagnosis of malignancy is dependent on the evidence of metastases. Approximately, 40% of all paragangliomas/pheochromocytomas harbour a germ-line mutation in one of the susceptibility genes identified so far.1 We present a case of a 29-year-old Caucasian man, referred to us on suspicion of a neck paraganglioma based on CT findings. MRI confirmed a lesion (80×40×40 mm) within the right parapharyngeal space, slightly intense on T2 and posterior …

Outcomes for Patients at Head and Neck Cancer Consultation

Objective: Head and neck cancer outpatient departments have to deal with challenging, impairing, and highly lethal diseases. As the search for better treatments continues, we aimed to analyze the clinical outcomes of our patients and to identify factors that may affect short-term survival. Method: We performed a retrospective cohort study concerning all patients referred to the head and neck consultation of a Portuguese cancer center (Lisbon’s Instituto Português Oncologia) during 2008. Clinical and demographic data were obtained from medical records of those patients, from their first appointment until December 2011. Results: Four hundred forty-four patients were referred to our consultation over the study period. Most of them were men (87%) and the mean age was 60.4 years (range, 14-86 years). The most common cancers were laryngeal (37%) and oropharyngeal (23%), and the majority (58%) were advanced (stage IVa or higher). Sixty percent of our patients were treated with surgery and adjuvant radiotherapy. The average time elapsed between treatment and first appointment was 80 days (range, 2-275 days). The overall 2-year survival rate was 58% and the 2-year disease-specific survival rate was 64%. The overall recurrence rate was 25%, mostly at the primary site. Conclusion: Most of our patients had advanced tumors at the time of referral. Despite the early beginning of treatment at our center, survival, locoregional control, and treatment options are compromised. Public health policies should be developed to improve public health education regarding head and neck cancer prevention and early referral.