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.
- Intracranial Complications of Sinogenic and Otogenic Infections in Children: an ESPN Survey on their Occurrence in the Pre-COVID and Post-COVID Era.Publication . Massimi, L; Cinalli, G; Frassanito, P; Arcangeli, V; Auer, C; Baro, V; Bartoli, A; Bianchi, F; Dietvorst, S; Di Rocco, F; Gallo, P; Giordano, F; Hinojosa, J; Iglesias, S; Jecko, V; Kahilogullari, G; Knerlich-Lukoschus, F; Laera, R; Locatelli, D; Luglietto, D; Luzi, M; Messing-Jünger, M; Mura, R; Ragazzi, P; Riffaud, L; Roth, J; Sagarribay, A; Pinheiro, M Santos; Spazzapan, P; Spennato, P; Syrmos, N; Talamonti, G; Valentini, L; Van Veelen, M L; Zucchelli, M; Tamburrini, GBackground: COVID-19 pandemic is thought to have changed the epidemiology of some pediatric neurosurgical disease: among them are the intracranial complications of sinusitis and otitis (ICSO). According to some studies on a limited number of cases, both streptococci-related sinusitis and ICSO would have increased immediately after the pandemic, although the reason is not clear yet (seasonal changes versus pandemic-related effects). The goal of the present survey of the European Society for Pediatric Neurosurgery (ESPN) was to collect a large number of cases from different European countries encompassing the pre-COVID (2017-2019), COVID (2020-2021), and post-COVID period (2022-June 2023) looking for possible epidemiological and/or clinical changes. Material and methods: An English language questionnaire was sent to ESPN members about year of the event, patient's age and gender, presence of immune-deficit or other favoring risk factors, COVID infection, signs and symptoms at onset, site of primary infection, type of intracranial complication, identified germ, type and number of surgical operations, type and duration of medical treatment, clinical and radiological outcome, duration of the follow-up. Results: Two hundred fifty-four cases were collected by 30 centers coming from 14 different European countries. There was a statistically significant difference between the post-COVID period (129 children, 86 cases/year, 50.7% of the whole series) and the COVID (40 children, 20 cases/year, 15.7%) or the pre-COVID period (85 children, 28.3 cases/year, 33.5%). Other significant differences concerned the presence of predisposing factors/concurrent diseases (higher in the pre-COVID period) and previous COVID infection (higher in the post-COVID period). No relevant differences occurred as far as demographic, microbiological, clinical, radiological, outcome, morbidity, and mortality data were concerned. Paranasal sinuses and middle ear/mastoid were the most involved primary site of infection (71% and 27%, respectively), while extradural or subdural empyema and brain abscess were the most common ICSO (73% and 17%, respectively). Surgery was required in 95% of cases (neurosurgical and ENT procedure in 71% and 62% of cases, respectively) while antibiotics in 99% of cases. After a 12.4-month follow-up, a full clinical and radiological recovery was obtained in 85% and 84% of cases, respectively. The mortality rate was 2.7%. Conclusions: These results suggest that the occurrence of ICSO was significantly increased after the pandemic. Such an increase seems to be related to the indirect effects of the pandemic (e.g., immunity debt) rather than to a direct effect of COVID infection or to seasonal fluctuations. ICSO remain challenging diseases but the pandemic did not affect the management strategies nor their prognosis. The epidemiological change of sinusitis/otitis and ICSO should alert about the appropriate follow-up of children with sinusitis/otitis.
- 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