Journal of Otology & RhinologyISSN: 2324-8785

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Case Report, J Otol Rhinol Vol: 6 Issue: 6

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

Johnson AB1*, Phillips JD2, Bright KL3, Ocal E4 and Hartzell LD1

1Department of Otolaryngology, University of Arkansas for Medical Sciences, Little Rock, AR, USA

2Department of Otolaryngology, Vanderbilt University Medical Center, Nashville TN, USA

3Department of Speech Language Pathology, Arkansas Children’s Hospital, Little Rock, AR, USA

4Department of Neurosurgery, University of Arkansas Medical Sciences, Little Rock, AR, USA

*Corresponding Author : Johnson Adam, MD, PhD
Department of Otolaryngology, University of Arkansas for Medical Sciences, Little Rock, AR, USA
Tel: 501-364-7546
E-mail: [email protected]

Received: August 16, 2017 Accepted: September 01, 2017 Published: September 07, 2017

Citation: Johnson AB, Phillips JD, Bright KL, Ocal E, Hartzell LD (2017) Progressive Velopharyngeal Insufficiency: A Rare presenting Symptom of Neurofibromatosis Type 1. J Otol Rhinol 6:6. doi: 10.4172/2324-8785.1000328

Abstract

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.

Keywords: Neurofibromatosis; Velopharyngeal insufficiency; Velopharyngeal dysfunction; Speech; Nasal air emission

Introduction

Velopharyngeal insufficiency (VPI) is most commonly associated with overt or submucus cleft palate. It can also be idiopathic. VPI is defined as a disorder resulting in the incomplete closure of the velopharyngeal sphincter, which leads to nasal air emissions and hypernasality with speech. Speech in patients with VPI can be difficult to understand leading to debilitating communication. There can also be other problems such as nasal regurgitation of food and drink. Correction of VPI is initially attempted with speech therapy in most cases. However, when VPI is not correctable with speech therapy, surgical intervention may be necessary. There are three common ways to improve VPI surgically: Furlow palatoplasty, sphincter pharyngoplasty, and pharyngeal flap. Less invasive techniques such as fat or calcium hydroxylapetite injections can also be considered in certain patients. The specific procedure selected in each case is determined based on the gap size and the closure pattern of the nasopharyngeal port. These procedures are chosen carefully based on a balance between the palatal anatomy, their efficacy to remedy the problem, and their inherent risk of morbidity.

Neurofibromatosis type 1 (NF1), also known as Von Recklinghausen disease, is the most common form of neurofibromatosis. NF1, an autosomal dominant progressive disease, and classically presents with cafe-au-lait macules, skin-fold freckling, neurofibromas, brain tumors, iris hamartomas, and characteristic bony lesions. Patients are also at an increased risk for learning and intellectual disabilities, aqueductal stenosis, pheochromocytoma, vascular dysplasia, scoliosis, and cancer [1]. There are few reports of VPI as a symptom of NF1 [2,3]. Here we report a novel case of delayed onset and progressive VPI as the presenting symptom leading to the diagnosis of NF1 in a teenage patient.

Case Report

The patient is an 18-year-old female that presented to the VPI clinic at Arkansas Children’s Hospital for concerns of hypernasal speech. She and her family reported slowly progressive speech problems that began approximately 5 years prior. Additional complaints were migraines, delayed puberty, periodic imbalance, dyspnea with exertion, chronic fatigue and occasional dysphagia. Examination revealed nasal air emissions and hypernasality with speech. Symmetric palatal mobility with slight uvular deviation and multiple cafe au lait spots were also noted. She was not found to have a cleft palate. Speech evaluation confirmed hypernasality and nasometry testing revealed a zoo passage with 47% nasalance (normal is 15 +/- 5) and nasal sentences with 74% nasalance (normal is 61 +/- 5). Awake flexible nasopharyngoscopy and laryngoscopy with speech pathology assistance showed good palatal and lateral wall mobility with a small persistent central gap (Figure 1). Prompt neurology consultation ensued and an emergent MRI was performed revealing long standing obstructive hydrocephalus, no brainstem lesion, and findings consistent with NF1 (Figure 2). Immediately neurosurgery was then consulted and the patient was scheduled emergently for an endoscopic third ventriculostomy for the obstructive hydrocephalus.

Figure 1: Nasopharyngoscopy of patient MR. A) Clear visualization of the adenoids and B) the palate elevates and the pharyngeal side walls medialize well with phonation, but fails to close gap in central area denoted by the long arrow.

Figure 2: T2 MRI showing features consistent with NF 1. A) basal ganglia abnormalities, B) 5 mm enhancing lesion within the right middle temporal gyrus (long arrow), C) cerebral aqueductal stenosis (arrow head), and D) dilated lateral ventricles.

Three months after the procedure, the patient did not notice any appreciable improvement in her speech. However, when she presented to clinic nine months after her ventriculostomy, she now felt like her speech was getting much better and others were now able to easily understand her. She also reported that her balance was improving, pubertal changes were taking place and she could now also blow up balloons, which was impossible previously. She also reported an improvement in her dysphagia. Her physical exam demonstrated improved palatal findings with her elevation now being symmetric. Flexible fiberoptic nasopharyngoscopy was then performed and she was noted to have much better velopharyngeal closure without a visible leak or gap suggesting the ability to now obtain near-total to full closure although the speech testing from the same day showed similar numbers to the tests prior to her surgery. It was suggested that surgery may eventually be necessary for correction of her VPI, however, continuing with therapy and waiting some additional time for potential further muscle coordination and strengthening to take place may possibly avoid surgical correction altogether. A follow-up visit for nine months later was then scheduled.

Discussion

There are no reports within the English literature that recognize VPI as a presenting symptom of NF1. There are however two notable studies that suggest an association between these two entities [2,3]. In 2010, Coysyns et al. [3] showed that in patients with NF1, 60% of them have some type of speech associated disorder. There is some suggestion that the fine motor problems often encountered in NF1 can lead to some of theses speech issues [4] Speech concerns in patients with NF 1 have mostly been reported as articulation and phonological disorders [5]. There are a few small studies, however, that suggest a hypernasal quality of the speech associated with NF1 [5].

The pathogenesis of VPI associated with NF1 is still not understood and is likely due to a variety of reasons that may vary between individuals [6]. Brain lesions such as neurofibromas, gliomas can cause VPI in addition to other brain disorders like hydrocephalus as occurred in this case. Cornett and colleagues looked at muscle strength differences between children with and without neurofibromatosis and showed that the children with NF1 have a relative muscle weakness compare to age matched control subjects [7]. It has not been discussed if this weakness exists in the muscles involved in speech and articulation as well as the velopharyngeal closure. While further study is needed to elucidate this, it is possible that our patient may suffer from this weakness and therefore has VPI secondary to this NF1-associated problem. In the case presented above, surgical correction of hydrocephalus seemed to result in improvement of the patient’s VPI although it is unknown yet if complete resolution will take place. We will continue to follow this patient in hopes of full resolution of her VPI without surgical intervention.

The presence of multiple cafeĢ au lait spots in addition to the multitude of neurologic symptoms with their apparent progressive nature prompted the testing and referrals that led to the appropriate diagnosis and management. Primary surgical intervention for VPI was avoided in light of the primary untreated neurological insults identified. She may possibly still require surgical management of her VPI, but optimizing her neurological status has already shown improvement in multiple aspects of her life and may continue to show improvement.

Conclusion

This case underscores the importance of obtaining a complete history and performing a thorough physical exam in all patients. This is especially true when a common diagnosis presents in an unusual or atypical way.

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