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Neurofibromatose tipo 2 e manifestações raras em idade pediátrica : a propósito de um caso clínico
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Resumo(s)
A Neurofibromatose tipo 2 é uma doença neurológica rara, definida pela formação de tumores benignos no sistema nervoso central. É uma condição genética, autossómica dominante, com início de sintomas durante a puberdade e/ou vida adulta embora possa surgir, numa minoria de casos, durante a infância. Clinicamente é caracterizada, predominantemente, por schwannomas vestibulares bilaterais. Em idade pediátrica, é comum o aparecimento de manifestações oftalmológicas como cataratas, hamartomas, hipostesia da córnea e olho seco. Outros sintomas incluem lesões dermatológicas, como tumores cutâneos e manchas café au lait. No que concerne à terapêutica, e visto tratar-se de uma doença crónica, uma abordagem multidisciplinar, com interação de diversas especialidades médicocirúrgicas, é crucial para minimizar a morbilidade e mortalidade associadas. Para abordagem deste tema, considera-se pertinente a análise do caso clínico de uma criança de onze anos de idade, com um quadro clínico inicial de diplopia binocular e esotropia do olho direito. O exame objetivo, assim como os exames complementares de diagnóstico, confirmaram tratar-se de Neurofibromatose tipo 2. Este caso clínico tem como objetivo dar a conhecer uma forma de apresentação de Neurofibromatose tipo 2 menos comum, sendo, posteriormente, analisados o diagnóstico, abordagem terapêutica e evolução clínica referentes à mesma. Discute-se, ainda, a idade de apresentação e forma de início da sintomatologia clínica. Por último, destaca-se a importância, bem como os desafios inerentes ao diagnóstico precoce e abordagem multidisciplinar dos doentes em idade pediátrica.
Neurofibromatosis type 2 is a rare neurological disorder characterized by the development of benign tumors in the central nervous system. It is a genetic, autosomal dominant condition, with onset of symptoms during puberty and/or adulthood, although in a minority of cases, it may manifest during childhood. Clinically, it is predominantly characterized by bilateral vestibular schwannomas. In pediatric cases, ophthalmological manifestations such as cataracts, hamartomas, corneal hypoesthesia, and dry eye. Other symptoms include dermatological lesions, such as cutaneous tumors and café-au-lait spots. Regarding treatment, and given its chronic nature, a multidisciplinary approach, including various medical and surgical specialties, is crucial to minimize associated morbidity and mortality. To address this topic, we will analyze the clinical case of an eleven-year-old child with an initial clinical presentation of binocular diplopia and right eye esotropia. The physical examination, as well as complementary diagnostic tests, confirmed the diagnosis of Neurofibromatosis type 2. This clinical case aims to highlight a less common presentation of Neurofibromatosis type 2 and, subsequently, analyze the diagnosis, therapeutic approach, and clinical evolution related to this presentation. The age of onset and form of presentations will also be discussed . Last but not least, it emphasizes the importance, as well as the inherent challenges of an early diagnosis and a multidisciplinary approach to pediatric patients.
Neurofibromatosis type 2 is a rare neurological disorder characterized by the development of benign tumors in the central nervous system. It is a genetic, autosomal dominant condition, with onset of symptoms during puberty and/or adulthood, although in a minority of cases, it may manifest during childhood. Clinically, it is predominantly characterized by bilateral vestibular schwannomas. In pediatric cases, ophthalmological manifestations such as cataracts, hamartomas, corneal hypoesthesia, and dry eye. Other symptoms include dermatological lesions, such as cutaneous tumors and café-au-lait spots. Regarding treatment, and given its chronic nature, a multidisciplinary approach, including various medical and surgical specialties, is crucial to minimize associated morbidity and mortality. To address this topic, we will analyze the clinical case of an eleven-year-old child with an initial clinical presentation of binocular diplopia and right eye esotropia. The physical examination, as well as complementary diagnostic tests, confirmed the diagnosis of Neurofibromatosis type 2. This clinical case aims to highlight a less common presentation of Neurofibromatosis type 2 and, subsequently, analyze the diagnosis, therapeutic approach, and clinical evolution related to this presentation. The age of onset and form of presentations will also be discussed . Last but not least, it emphasizes the importance, as well as the inherent challenges of an early diagnosis and a multidisciplinary approach to pediatric patients.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2024
Palavras-chave
Manifestações oftalmológicas Neurofibromatose tipo 2 Schwannomas Pediatria