A Rare Cause of Severe Airway Stenosis in a Child: Neurofibromatosis Type 1 Associated Laryngeal Neurofibroma

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Introduction The complex nature of genetic disorders often manifests with a multitude of clinical presentations, necessitating a meticulous approach to diagnosis and treatment. In the field of rare diseases, atypical presentations, overlapping symptomatology, and the small number of documented cases pose challenges (Bedei I vd., Genes (Basel) 2021; 12: 501). Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant neurocutaneous disorder characterized by peripheral nerve sheath tumors and multisystem involvement. Moyamoya disease (MMD) is a relatively rare cerebrovascular disorder characterized by typical angiographic findings in the absence of an associated underlying condition and is also referred to as primary or idiopathic Moyamoya. In contrast, Moyamoya syndrome (MMS) describes similar angiographic findings occurring in association with an underlying medical condition that contributes to the development of vascular changes (e.g., NF1). Moyamoya most commonly presents with ischemic or hemorrhagic cerebrovascular events, although less frequent manifestations include seizures and other neurological deficits such as hemiparesis, hemisensory loss, or speech impairment (Smith ER, Scott RM, J Neurosurg Pediatr 2012; 9: 353). In patients with a classical NF1 phenotype, approximately 10% remain without a molecular diagnosis following DNA-based testing; this proportion decreases to about 3–5% with the addition of RNA-based analysis (Legius E vd., Genet Med 2021; 23: 1506–1513). This poses a significant diagnostic challenge for clinicians. In this case, a patient with MMD and clinically suspected NF-1, without genetic confirmation, was diagnosed after a laryngeal neurofibroma causing significant airway stenosis. Written informed consent for the use of the patient’s clinical data and publication of this case report was obtained from the patient’s legal guardians. Publication History Received: 04 January 2026 Accepted after revision: 28 May 2026 Article published online: 13 July 2026 © 2026. Thieme. All rights reserved. Georg Thieme Verlag KG Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany