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1دورية أكاديمية
المؤلفون: Rebelo, M, Francisco, T, Perry da Câmara, R, Pereira, A, Iraneta, A, Amorim, M, Paiva Lopes, MJ, Lopes da Silva, R, Cordeiro, AI
مصطلحات موضوعية: Ambulatory Care Facilities, Child, Humans, Neurocutaneous Syndromes* / diagnosis, Neurocutaneous Syndromes* / therapy, Neurofibromatosis 1* / therapy, Portugal, Quality of Life, Retrospective Studies, Tertiary Care Centers, HDE PED, HDE DER, HDE NEU PED, HDE NCIR, HDE GEN, HDE NEF PED
الوصف: Introduction: 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 ...
العلاقة: Acta Med Port . 2024 Mar 1;37(3):187-197; http://hdl.handle.net/10400.17/4822Test
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2دورية أكاديمية
المؤلفون: Anselmo, M, Calado, E, Vieira, JP, Dias, AI, Moreira, A, Dias, K
مصطلحات موضوعية: Neurofibromatose Tipo 1, Criança, Protocolo, HDE NEU PED
الوصف: A Neurofibromatose tipo a (NF1) é uma doença multissistémica de carácter progressivo. Tem uma expressão fenotípica muito variada, sem factores preditivos de gravidade. Objectivos: caracterizar a população pediátrica com NF! seguida na consulta de Neurologia Pediátrica no Hospital de Dona Estefânia (HDE) e os principais motivos de referência; definir um protocolo de seguimento; definir critérios de referenciação para o neuropediatra. Material e Métodos: realizou-se um estudo retrospectivo e longitudinal através da consulta dos processos clínicos. Incluiu todas as crianças com critérios de diagnóstico de NF1 de acordo com National Institutes of Health Consensus Development Conference criteria de 1988. Os dados foram comparados com outras séries recentes. Resultados: São 28 as crianças com critérios de diagnóstico de NF1, 15 (53%) do sexo feminino e 17 (60,7%) com anetecendentes familiares de NF1. A média da idade do diagnóstico é de 3,6 +-3,3 anos (3m-14a) e a idade actual é de 8 +-7,05 anos (11m-15a). O principal motivo de referenciação à consulta de Neurologia foi um pedido de orientação face à presença de manchas "café cpm leite", que estiveram presentes em 100% dos casos. a epilepsia ocorreu em 4 (14,2%)crianças, com crises parciais complexas. Surgiram complicações graves em 7 crianças (25%): tumor do SNC (3); linfoma (1); pseudoartrose da tíbia (1); epilepsia refractária (1); neurofibroma retroperitoneal (1).
العلاقة: Acta Pediatr Port. 2005; 36 (2/3): 115-120; http://hdl.handle.net/10400.17/1315Test
