Journal of Otology & RhinologyISSN: 2324-8785

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Progressive Velopharyngeal Insufficiency: A Rare presenting Symptom of Neurofibromatosis Type 1

Velopharyngeal insufficiency (VPI) is most commonly associated with overt or submucous cleft palate. There are few reports of VPI as a symptom of Neurofibromatosis type 1 (NF1). Here we report a novel case of delayed onset and progressive VPI as the presenting symptom leading to the diagnosis of NF1. Examination revealed nasal air emissions, hypernasality, a persistent velopharyngeal gap and multiple cafe au lait spots. Subsequent neurology consultation revealed changes on MRI consistent with NF1. She was then evaluated by neurosurgery and underwent surgery to address hydrocephalus. With time, the patient has seen improvement in speech. Primary surgical intervention for VPI was avoided. This case underscores the importance of obtaining a complete history and performing a thorough physical exam in all patients.

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