Doença cerebrovascular em crianças e adolescentes com neurofibromatose tipo 1
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Data
2015-03-31
Autores
Paschoal, Joelma Karin Sagica Fernandes [UNIFESP]
Orientadores
Rodrigues, Marcelo Masruha [UNIFESP]
Tipo
Tese de doutorado
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Resumo
A doença cerebrovascular ou vasculopatia cerebral é uma complicação potencialmente grave em pacientes com neurofibromatose tipo 1. Este estudo objetivou descrever a prevalência da doença cerebrovascular em uma população de crianças e adolescentes com NF1, além de descrever os principais sintomas neurológicos associados e relatar os achados de ressonância magnética de encéfalo e Doppler transcraniano. Para o estudo, foram selecionados 40 pacientes, entre crianças e adolescentes, todos com diagnóstico de neurofibromatose tipo 1, obedecendo aos critérios de inclusão, e foram classificados como sintomáticos ou assintomáticos, de acordo com a presença dos sintomas neurológicos mais frequentes associados à doença cerebrovascular, como, cefaleia, crises epilépticas e déficits motores. Os pacientes foram submetidos à realização de exames complementares, para investigação da doença cerebrovascular. Aqueles pacientes que, por meio do Doppler transcraniano, apresentaram padrão sugestivo de processo estenótico/oclusivo das artérias intracranianas foram submetidos à angiografia por ressonância para confirmar tais achados. De acordo com a presença de sintomas neurológicos mais frequentes associados à doença cerebrovascular, 15/40 (37,5%) pacientes se apresentaram assintomáticos e 25/40 (62,5%) pacientes foram considerados como sintomáticos, sendo identificada a cefaleia como o sintoma mais frequente neste grupo. Em relação aos exames complementares, não houve diferença estatisticamente significante em relação à presença de sintomas neurológicos, porém a frequência de alterações na ressonância foi maior no grupo sintomático. Ao Doppler transcraniano, 4/40 (10%) pacientes apresentaram padrão sugestivo de doença cerebrovascular e, destes, 3/40 pacientes (7,5 %) confirmaram os achados por meio de angiografia por ressonância. Dos pacientes diagnosticados com doença cerebrovascular, apenas um apresentava-se assintomático. A doença cerebrovascular pode ser detectada em crianças e adolescentes portadores de NF1 independentemente da presença ou não de sintomas clínicos neurológicos. A realização de exames complementares para rastreamento da doença cerebrovascular, como Doppler transcraniano, pode vir a ser um método muito útil no rastreio precoce da vasculopatia cerebral em pacientes portadores de neurofibromatose tipo 1.
Cerebrovascular disease is a potentially serious complication in patients with neurofibromatosis type 1. This study aimed to describe the prevalence of cerebrovascular disease and the main neurological symptoms associated with neurofibromatosis type 1 in a cohort of children and adolescents, besides reporting brain magnetic resonance imaging (MRI) and transcranial Doppler (TCD) ultrasound findings. 40 patients with neurofibromatosis type 1 were enrolled in the study, among children and adolescents, according to inclusion criteria. They were classified as symptomatic or asymptomatic according to the presence of the most common neurological symptoms associated with cerebrovascular disease, such as, headache, seizures and motor deficits. All subjects underwent laboratory testing for investigation of cerebrovascular disease. Besides, the ones who showed a suggestive pattern of stenotic process / occlusive intracranial arteries by TCD, also underwent angiography imaging to confirm these findings. According to the presence of the most frequent neurological symptoms associated with cerebrovascular disease, 15/40 (37.5%) patients were classified as asymptomatic and 25/40 (62.5%) patients were classified as symptomatic. Headache was the most frequent symptom in this group. There was no statistically significant difference regarding the presence of neurological symptoms, but the frequency of changes in MRI was greater in the symptomatic group. By TCD, 4/40 (10%) patients showed a suggestive pattern of cerebrovascular disease and 3/40 patients (7.5%) confirmed the findings by angiography MRI. Among the patients diagnosed with cerebrovascular disease, only one patient was asymptomatic. Cerebrovascular disease can be detected in children and adolescents with neurofibromatosis type 1, regardless of the presence of neurological clinical symptoms. Transcranial Doppler ultrasound may be useful in early detection of cerebral vasculopathy in patients with neurofibromatosis type 1.
Cerebrovascular disease is a potentially serious complication in patients with neurofibromatosis type 1. This study aimed to describe the prevalence of cerebrovascular disease and the main neurological symptoms associated with neurofibromatosis type 1 in a cohort of children and adolescents, besides reporting brain magnetic resonance imaging (MRI) and transcranial Doppler (TCD) ultrasound findings. 40 patients with neurofibromatosis type 1 were enrolled in the study, among children and adolescents, according to inclusion criteria. They were classified as symptomatic or asymptomatic according to the presence of the most common neurological symptoms associated with cerebrovascular disease, such as, headache, seizures and motor deficits. All subjects underwent laboratory testing for investigation of cerebrovascular disease. Besides, the ones who showed a suggestive pattern of stenotic process / occlusive intracranial arteries by TCD, also underwent angiography imaging to confirm these findings. According to the presence of the most frequent neurological symptoms associated with cerebrovascular disease, 15/40 (37.5%) patients were classified as asymptomatic and 25/40 (62.5%) patients were classified as symptomatic. Headache was the most frequent symptom in this group. There was no statistically significant difference regarding the presence of neurological symptoms, but the frequency of changes in MRI was greater in the symptomatic group. By TCD, 4/40 (10%) patients showed a suggestive pattern of cerebrovascular disease and 3/40 patients (7.5%) confirmed the findings by angiography MRI. Among the patients diagnosed with cerebrovascular disease, only one patient was asymptomatic. Cerebrovascular disease can be detected in children and adolescents with neurofibromatosis type 1, regardless of the presence of neurological clinical symptoms. Transcranial Doppler ultrasound may be useful in early detection of cerebral vasculopathy in patients with neurofibromatosis type 1.
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Citação
PASCHOAL, Joelma Karin Sagica Fernandes. Doença cerebrovascular em crianças e adolescentes com neurofibromatose tipo 1. 2015. 100 f. Tese (Doutorado em Neurologia - Neurociências) - Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, 2015.