Browsing by Author "Sagarribay, A"
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- BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric GliomasPublication . Frazão, L; Martins, MC; Nunes, VM; Pimentel, J; Faria, C; Miguéns, J; Sagarribay, A; Matos, M; Salgado, D; Nunes, S; Mafra, M; Roque, LGenetic alterations in pediatric primary brain tumors can be used as diagnostic and prognostic markers and are the basis for the development of new target therapies that, ideally, would be associated with lower mortality and morbidity. This study evaluates the incidence and interplay of the presence of BRAF V600E mutation and chromosomal 9p21 deletions in a series of 100 pediatric gliomas, aiming to determine the role of these alterations in recurrence and malignant transformation, and to verify if they could be used in the clinical set for stratifying patients for tailored therapies and surveillance.
- Cerebrospinal Fluid Hypotension Following Fall in a Child: Case ReportPublication . Botelho, G; Grilo, RD; Almeida, VD; Romão, P; Gomes, S; Sagarribay, ACSF hypotension arises in the context of a leak of CSF which causes negative intracranial pressure. Sacral fractures result from high-energy trauma which are frequently underdiagnosed. A ten-year-old boy presented with hip pain, after a fall. He mobilized both lower limbs, reported no leg pain, irradiation nor lack of sphincter control. The neurological examination was normal. When asked to stand, he began biparietal headache, nausea and vomiting, which improved laying down. CT scan showed an occult intrasacral meningocele; the MRI revealed collections of CSF along the spine, a S3 fracture with potential laceration of the meningocele and opening of a CSF fistula. Our diagnosis was the CSF hypotension, secondary to the fistula opening. The diagnosis was challenging. The child first presented with symptoms of CSF hypotension without evident cause. The discovery of the meningocele led us to hypothesize the opening of a fistula, a rare diagnosis, later confirmed by MRI.
- Cordoma do Clivus: Abordagem Endocópica Endonasal TransesfenoidalPublication . Jerónimo, A; Sagarribay, A; Sousa, V; Gonçalves, V; Barros, EOs cordomas da base do crânio são tumores raros, localmente destrutivos, que constituem um desafio cirúrgico pela proximidade a estruturas neurovasculares vitais e ao elevado potencial de recidiva. Os autores descrevem o caso de uma mulher de 45 anos, com quadro de cefaleias, anisocória e diplopia, com cinco meses de evolução, cujos exames complementares de diagnóstico revelaram uma volumosa lesão expansiva dos 2/3 superiores do clivus, com preenchimento do seio esfenoidal, destruição selar e extensão para ambos os seios cavernosos. Procedeu-se a excisão da lesão, após biopsia diagnóstica compatível com cordoma, por abordagem endoscópica endonasal transesfenoidal (EET), guiada por neuronavegação. Com 3 meses de seguimento, a doente encontra-se clinicamente bem e a ressonância magnética revela eventual resíduo tumoral no seio cavernoso direito. A cirurgia EET constitui uma alternativa minimamente invasiva na abordagem de lesões expansivas da base do crânio, possibilitando, em casos seleccionados, resultados similares e com menor morbilidade, relativamente às técnicas cirúrgicas clássicas.
- Extensive Inner Ear and Facial Canal Lipoma - a Case ReportPublication . Diogo, M; Sagarribay, A; Conceição, CInner ear lipomas are rare benign congenital lesions, most frequently presenting at the internal auditory canal and labirynth. Lipomas of the facial nerve are even less frequent. We present a case of a lipoma involving all internal ear structures and VII nerve canal and extending intracranially and extracranially, presenting with facial palsy and ipsilateral hearing loss. To our knowledge this is the most extensive case of inner ear lipoma described.
- Langerhans Cell Histiocytosis in the Occipital Condyle: A Case Study and a Brief Review of the LiteraturePublication . Barbosa, NC; Ramos, A; Sagarribay, A; Ribeiro, MJWe present a case study of a 5-year-old patient, who presented with left-sided torticollis. Due to persistence of problems, a CT and an MRI were made showing a single osteolytic lesion centred on right occipital condyle. After an open biopsy, histology confirmed it to be Langerhans cell histiocytosis (LCH). Torticollis or restricted range of motion is a presenting feature in 76% of children with LCH with cervical involvement. There remains much debate on the best treatment strategy. The clinical and radiological outcomes of the case study presented on this article support the treatment of LCH with chemotherapy in cases with solitary involvement of the occipital condyle.
- Periodontoid Pseudotumor in Tuberous Sclerosis Associated With Neck Diffuse LipomatosisPublication . Pinto, E; Veiga, M; Sagarribay, A; Conceição, CTuberous sclerosis (TS) is a genetic multisystem disorder associated with the development of benign tumors in many organs. Diffuse lipomatosis, which represents the overgrowth of fatty tissue in one part of the body, is a very rare finding reported in patients with tuberous sclerosis. We describe the case of a patient with diffuse lipomatosis in the right scapular, posterior cervical and perivertebral regions, associated with a space-occupying lesion adjacent to the odontoid process of C2 that appeared to be a pseudotumor, and discuss possible relation between these entities.
- A T1-Hypointense Intracranial Dermoid CystPublication . Gil da Veiga, M; Sagarribay, A; Marques Pontinha, C; Conceição, C