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- Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-Year Experience of a Pediatric Tertiary Hospital in PortugalPublication . Rebelo, M; Francisco, T; Perry da Câmara, R; Pereira, A; Iraneta, A; Amorim, M; Paiva Lopes, MJ; Lopes da Silva, R; Cordeiro, AIIntroduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS. Methods: Retrospective analysis of 281 patients enrolled in the MOCND over the first five years of activity (October 2016 to December 2021), reviewing genetics, family history, clinical features, complications, and therapeutic strategies for NF1 and TSC. Results: The clinic works weekly with a core team of pediatricians and pediatric neurologists supported by other specialties as needed. Of the 281 patients enrolled, 224 (79.7%) had identifiable syndromes such as NF1 (n = 105), TSC (n = 35), hypomelanosis of Ito (n = 11), Sturge-Weber syndrome (n = 5), and others. In NF1 patients, 41.0% had a positive family history, all manifested café-au-lait macules, 38.1% neurofibromas with 45.0% being large plexiform neurofibromas. Sixteen were under treatment with selumetinib. Genetic testing was performed in 82.9% of TSC patients with pathogenic variants found in TSC2 gene in 72.4% patients (82.7% if considered contiguous gene syndrome). Family history was positive in 31.4%. All TSC patients presented hypomelanotic macules and fulfilled diagnostic criteria. Fourteen patients were being treated with mTOR inhibitors. Conclusion: Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.
- 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.
- 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.
- Avaliação da Dor na Pessoa Idosa com DemênciaPublication . Bentes Pinto, AFCom o envelhecimento da população, aumenta também a prevalência da demência. Devido às várias comorbilidades associadas ao envelhecimento, a dor é um sintoma comum nesta população especial. Os défices cognitivos e alterações comportamentais associados à demência, dificultam o auto relato da experiência de dor, tornando mais complexa a sua avaliação. Como consequência, os idosos com demência, têm frequentemente a dor subavaliada e subtratada. Objetivo: Fazer uma revisão do tema focando os princípios gerais na avaliação e tratamento da dor e escalas comportamentais validadas e adaptadas culturalmente para a língua portuguesa. Metodologia: Foi realizada uma revisão narrativa da literatura com pesquisa nas bases de dados EBSCOhost - research databases (CINAHL Plus with full text; Nursing & Allied Health Collection full text; Cochrane Plus Collection full text; MedicLatina e MEDLINE with full text.) e Google académico de artigos em inglês e português publicados entre janeiro de 1999 e dezembro de 2016. Resultados: A avaliação da dor na pessoa idosa é um processo complexo. É necessário seguir alguns princípios gerais para a sua avaliação, existindo várias escalas comportamentais para tentar dar resposta a este problema. Conclusão: É imprescindível a utilização destes instrumentos de avaliação específicos, seguindo as boas práticas no controle e gestão da dor, permitindo assim uma melhoria da qualidade de vida. Especialmente nesta população específica, o enfermeiro assume um papel relevante na avaliação e controle da dor.
- A T1-Hypointense Intracranial Dermoid CystPublication . Gil da Veiga, M; Sagarribay, A; Marques Pontinha, C; Conceição, C
- A Rare Case of an Intramedullary Metastasis of a Myxopapillary EpendymomaPublication . Fonseca, L; Cicuendez, M; Martínez-Ricarte, F; Martínez-Saez, E; Cordero, E; Bescos, ABackground: Myxopapillary ependimoma (MPE) is a benign slow-growing tumor, and it has been designated histologically as a Grade I neoplasm according to the 2016 World Health Organization classification. Despite the benign character, dissemination and metastasis have occasionally been reported. The retrograde dissemination to other levels of the neuraxis is extremely rare, being more frequent to the intracranial compartment. Case description: We hereby present a case of medullary metastasis of cauda equina MPE, with a history of having undergone a subtotal resection and postoperative adjuvant radiotherapy. The patient presents complaints of night dorsal pain attributable to intradural metastasis twenty-one years after the first surgical intervention. Conclusion: The case reported highlights the importance of long follow-up in patients with MPE, since the possibility of secondary seeding to distant craniospinal sites or local spinal sites after surgery, and radiotherapy should be considered in metastatic disease.
- Craniossinostoses Importância Clínica e Implicações FuncionaisPublication . Cristóvão, C; Emílio, A; Soares, MR; Dias, AI; Matos, M; Távora, LIntrodução: A craniossinostose é uma condição patológica que resulta do encerramento precoce de uma ou várias suturas cranianas, podendo, para além da questão estética, levar ao aparecimento de complicações neurológicas, mais frequente quando existe envolvimento de mais de uma sutura. Descrição dos Casos: Os autores apresentam dois casos clínicos de craniossinostose, com diferentes tempos de seguimento, ilustrando a problemática da intervenção cirúrgica e a necessidade de observação precoce e seguimento por Neurocirurgia. Discussão: Sendo uma patologia relativamente frequente na população pediátrica geral deverá constituir um motivo de atenção especial por parte do Pediatra/Médico Assistente na avaliação periódica em Consulta de Rotina, referenciando à Consulta de Neurocirurgia o mais precocemente possível.
- Simultaneous Supratentorial and Infratentorial Pilocytic Astrocytomas in an Adult Patient with Concurrent Neurofibromatosis Type 1 and HIV InfectionPublication . Forte, D; Nabais, A; Pontinha, C; Mafra, M; Mateus, LBACKGROUND: Neurofibromatosis type 1 (NF1) has been identified as a predisposing factor in the development of pilocytic astrocytoma (PA), a common benign central nervous system tumor. Although this is a common association, simultaneous development of multiple lesions is an infrequent finding, especially in nonoptic and hypothalamic locations. CASE DESCRIPTION: A 41-year-old female patient with NF1 and uncontrolled human immunodeficiency virus (HIV) type 1 infection presented with a first generalized seizure and associated headache and ataxia. Imaging studies revealed 2 large intra-axial PAs, nodular-cystic in the supratentorial compartment and solid in the infratentorial compartment. Both lesions were treated by gross total resection in 2 surgeries performed 1 week apart. Despite their different imaging patterns, the tumors were histologically and genetically identical. CONCLUSIONS: We present a unique case involving 2 histologically and genetically identical PAs occurring simultaneously in supratentorial and infratentorial locations. We suggest that an intrinsic predisposition to tumor development in patients with NF1 might have been enhanced by the HIV-related immunosuppression in this case. Strict oncologic surveillance is essential in patients with a tumor predisposition syndrome combined with immunosuppression.
- 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.