Abstract
BackgroundNeurofibromatosis type 1 (NF-1) is an autosomal dominant disease that affects one in every 3000 individuals. This disease can present a wide range of clinical manifestations, ranging from skin abnormalities to severe vascular damage. Although not commonly recognized in the context of NF-1, cerebrovascular disease (CVD), can be often present since childhood and diagnosed just later in life. When present, NF-1-associated CVD clinical manifestations may include headache, cognitive deficits and ultimately aneurysm rupture, causing death. Thus, CVD plays an important role in the clinical manifestations, disease severity and prognosis of patients with NF-1. This systematic review aims to summarize the body of evidence linking NF-1 and CVD in children.MethodsTwo independent investigators performed a systematic review on the PubMed and EMBASE search platforms, using the following key terms: “neurofibromatosis type 1”, “Von Recklinghausen’s disease”, "children", "adolescents", "stroke", "Moyamoya disease", "vascular diseases", "cerebrovascular disorders", "aneurysm" and "congenital abnormalities". Studies focused on assessing the development of CVD in children with NF-1 were included.ResultsSeven studies met the inclusion criteria. Twelve different clinical manifestations have been associated with cerebrovascular changes in children with NF-1; 44,5% of diagnosed patients were asymptomatic.ConclusionThe available evidence suggests that CVDs are related with the progression of NF-1, even in the absence of a clear clinical manifestation. In addition, improved prognosis was observed when imaging tests were performed to screen for cerebrovascular alterations early during the clinical investigation. Early diagnosis of CVD in NF-1 patients foster implementation of timely interventions, directly impacting clinical outcomes.
Highlights
Neurofibromatosis type 1 (NF-1) is an autosomal dominant, chronic and progressive disease [1] with an incidence of approximately 1:3000 individuals, with almost half of the cases being related to a hereditary origin [2]
Twelve different clinical manifestations have been associated with cerebrovascular changes in children with NF-1; 44,5% of diagnosed patients were asymptomatic
The available evidence suggests that cerebrovascular disease (CVD) are related with the progression of NF-1, even in the absence of a clear clinical manifestation
Summary
Neurofibromatosis type 1 (NF-1) is an autosomal dominant, chronic and progressive disease [1] with an incidence of approximately 1:3000 individuals, with almost half of the cases being related to a hereditary origin (familial NF) [2]. The gold-standard diagnosis of NF-1 is the molecular genetic testing, which is related to high cost and low availability in the public health system, especially in resource-limited regions [3]. For this reason, NF-1 diagnosis is frequently based on the presence of two or more criteria that encompass the main clinical manifestations of the disease and that were established by the National Institutes of Health (NIH) Consensus Development Conference [4]. Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease that affects one in every 3000 individuals This disease can present a wide range of clinical manifestations, ranging from skin abnormalities to severe vascular damage. This systematic review aims to summarize the body of evidence linking NF-1 and CVD in children
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