PhiliPPine Journal of otolaryngology-head and neck Surgery Vol. 32 no. 1 January – June 2017 PhiliPPine Journal of otolaryngology-head and neck Surgery 41 CASE REPORTS ABSTRACT Objective: This report aims to describe unique manifestations of proboscis lateralis and highlight the importance of a multidisciplinary approach to address the problems that arise from this rare congenital anomaly. Methods: Design: Case Report Setting: Tertiary Government Hospital Patient: One Results: A 13-year-old girl diagnosed with proboscis lateralis presented with a trunk-like appendage projecting from the surface of the right supramedial canthal area. She also had clear nasal discharge, nasal congestion, mouth-breathing and snoring since birth. Paranasal Sinus (PNS) CT scan with 3D reconstruction showed agenesis of the right paranasal sinuses and expansile aeration of the left paranasal sinuses. Due to her condition, the drainage system of the paranasal sinuses was obstructed causing chronic rhinosinusitis (CRS). This hindered plans for reconstructive surgery despite medical management, hence, the patient underwent Endoscopic Sinus Surgery (ESS). Conclusions: Proboscis lateralis is a rare congenital anomaly that results in aesthetic problems as well as airway concerns such as rhinosinusitis and obstructive sleep apnea syndrome (OSAS). Management entails a multidisciplinary approach to address functional and aesthetic problems of the patient. Keywords: proboscis lateralis, chronic rhinosinusitis, obstructive sleep apnea, endoscopic sinus surgery, multidisciplinary approach, plastic surgery, reconstructive surgery Proboscis lateralis is a rare congenital anomaly of the craniofacial anatomy with an incidence of 1:1,000,000 to 1:100,000 caused by abnormal embryonic nasal development that results in a trunk-like appendage from the facial surface projecting frequently from the region of the medial canthus.1 This report aims to describe the unique manifestations of proboscis lateralis associated with chronic rhinosinusitis (CRS) and obstructive sleep apnea syndrome (OSAS), which, to the best of our knowledge, have not been previously described in the English literature. It also aims to highlight the importance of a multidisciplinary approach to address functional and aesthetic problems that arise from this rare condition. Proboscis Lateralis with RhinosinusitisLaurence Michael N. Vera Cruz, MDGil M. Vicente, MD Department of Otorhinolaryngology Head and Neck Surgery Jose R. Reyes Memorial Medical Center Correspondence: Dr. Gil M. Vicente Department of Otorhinolaryngology Head and Neck Surgery Jose R. Reyes Memorial Medical Center San Lazaro Compound, Rizal Avenue Sta. Cruz, Manila 1003 Philippines Phone: (632) 711-9491 local 320 E-mail: drgmvicente@yahoo.com The authors declared that this represents original material that is not being considered for publication or has not been published or accepted for publication elsewhere, in full or in part, in print or electronic media; that the manuscript has been read and approved by all the authors, that the requirements for authorship have been met by each author, and that each author believes that the manuscript represents honest work. Disclosures: The authors signed disclosures that there are no financial or other (including personal) relationships, intellectual passion, political or religious beliefs, and institutional affiliations that might lead to a conflict of interest. Presented at the Philippine Society of Otolaryngology Head and Neck Surgery Interesting Case Contest (1st Place). April 8, 2017. Plaza del Norte Hotel & Convention Center, Ilocos Norte. Philipp J Otolaryngol Head Neck Surg 2017; 32 (1): 41-43 c Philippine Society of Otolaryngology – Head and Neck Surgery, Inc. Creative Commons (CC BY-NC-ND 4.0) Attribution - NonCommercial - NoDerivatives 4.0 International PhiliPPine Journal of otolaryngology-head and neck Surgery Vol. 32 no. 1 January – June 2017 CASE REPORTS 42 PhiliPPine Journal of otolaryngology-head and neck Surgery CASE REPORT This is the case of a 13-year-old girl who presented with a trunk- like appendage projecting from the surface of the right supramedial canthal area and was born preterm at 32 weeks age of gestation via normal spontaneous delivery to a 30 year-old primigravid. Her mother had fever followed by threatened abortion at the sixth week age of gestation and was managed successfully with Isoxsuprine. Her mother denied exposure to teratogens. Since birth, the patient had also been manifesting with clear nasal discharge, nasal congestion, mouth-breathing and snoring. She was referred to a tertiary hospital for reconstructive surgery of the aesthetic anomaly. However, repeated attempts at reconstructive surgery were deferred due to persistent nasal discharge despite aggressive medical management. This caused her to be quiet and socially withdrawn with low self-esteem. Three years prior to admission, the patient was seen at our institution by the plastic surgery service but surgery was deferred again due to persistent nasal discharge and sinus infection which could result in failure of the reconstructive surgery. A few months prior to admission, she was referred to our otorhinolaryngology service for management of chronic nasal discharge and congestion. She had severe manifestations with a Visual Analog Score (VAS) of 9 for CRS. On physical examination, she had hypertelorism and a nasal appendage located at the right supramedial canthal area. (Figure 1) Paranasal Sinus (PNS) CT scan with 3D reconstruction revealed a rudimentary right nasal structure attached at the right supramedial canthal area with agenesis of frontal, maxillary, ethmoid and sphenoid sinuses on the right. The left sphenoid and maxillary sinuses had expansile aeration with deviation towards the contralateral side. The left anterior ethmoid cells were aerated. (Figure 2) Because of the combination of CRS, OSAS, hypertelorism and possible depression arising from the aesthetic problem, a multidisciplinary team Figure 1. Preoperative photographs of the patient (published in full with permission) Figure 2. A. Coronal view using 16-slice helical CT scan B. Three-dimensional CT scan reconstruction approach was necessary. The patient was referred to the snoring clinic to explore treatment of the OSAS and to the ophthalmology department to assess what can be done for the hypertelorism. The ophthalmology service also evaluated the patient’s hypertelorism, weighed risks and benefits and leaned towards conservative management since the condition was not visually disturbing. The patient was likewise referred to the psychiatry department to ensure that the dynamics of a normal growing child in the adolescent stage were evaluated and addressed properly. The pediatrics service addressed the patient’s general health, and developmental pediatrics also played a role in counselling. The otorhinolaryngology, plastic surgery, and anesthesia teams collaborated to plan surgical interventions. The teams on board carefully weighed risks of possible complications of surgery against possible outcomes on the future of a growing child if surgery was delayed or not done. She first underwent endoscopic sinus surgery. Nasal videoendoscopy showed the clear nasal discharge from the left nasal cavity and from the rudimentary nasal appendage. The endoscope could not be inserted further into the nasopharynx through the left nasal cavity due to the distorted nasal anatomy. (Figure 3) Intraoperatively, the nasal turbinates, uncinate process, and ethmoid air cells were identifiable but were noted to have abnormal structures. Uncinectomy, antrostomy, anterior ethmoidectomy and frontal sinusotomy were performed endoscopically. Significant clinical improvement was noted on follow-up 9 weeks after the procedure. The patient reported improved nasal airflow, resolution of snoring and decrease in amount and frequency of rhinorrhea. Visual Analog Score (VAS) for CRS decreased from the preoperative score of 9 (severe) to 2 (mild). No complications were noted. In addition to functional improvement, there was also an improvement in self-esteem. With otorhinolaryngology, pediatrics, and anesthesia on board, she successfully underwent initial reconstruction by the plastic surgery service. (Figure 4) Future plans are directed towards a second stage reconstructive surgery after the pubertal growth spurt which occurs at around 16-18 years of age.2 PhiliPPine Journal of otolaryngology-head and neck Surgery Vol. 32 no. 1 January – June 2017 PhiliPPine Journal of otolaryngology-head and neck Surgery 43 CASE REPORTS DISCUSSION Under the Revised Sakomoto Grouping System,3 this case of proboscis lateralis with hypertelorism, nasal defect but no cleft lip or palate is classified under group III. Proboscis lateralis is commonly associated with median facial clefts which cause hypoplasia or agenesis of one side of the nose.4,5 This was consistent with the findings in this patient with agenesis of the right side of the nose and nasal sinuses. However, to the best of our knowledge, there are no published reports in the English literature of proboscis lateralis complicated by the presence of CRS and OSAS. This case showed that proboscis lateralis may be associated with anatomical defects that obstruct drainage of the developed contralateral paranasal sinuses, leading to chronic rhinosinusitis. The patient’s chronic and non-resolving sinusitis was due to obstruction of the ostiomeatal unit. The abnormal nasal anatomy caused an obstruction of the left ostiomeatal unit which then resulted in obstruction of drainage of the left paranasal sinuses. Computed tomography and magnetic resonance imaging have been used as the imaging modalities for preoperative evaluation of patients with this anomaly.4,5,7-10 In this case, PNS CT scan was crucial for planning the surgical management of the functional airway problem. Previous reports largely focused on the successful outcomes of reconstructive surgery4,7,9,11,12 but for this case, CRS had to be addressed first. Endoscopic sinus surgery addressed this functional problem by removing the ostiomeatal unit obstruction. 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The surgical repair of half-nose. J Plast Reconstr Aesthet Surg. 2010 Jan; 63(1): 15- 21. DOI: 10.1016/j.bjps.2008.08.040; PMID: 19046661. Johns Hopkins Medicine [homepage on the Internet]. Endoscopic Sinus Surgery. 11. Otolaryngology-Head and Neck Surgery. [cited 2015 Dec 07]. Available from: http://www. hopkinsmedicine.org/otolaryngology/specialty_areas/sinus_center/procedures/endoscopic_ sinus_surgery.html. Kapocheva-Barsova G, Nikolovski N. Justification for Rhinoseptoplasty in Children–Our 10 12. Years Overview. Open Access Maced J Med Sci. 2016 Sep 15; 4(3): 397–403. DOI: 10.3889/ oamjms.2016.080; PMID: 27703562; PMCID: PMC5042622. Bircher A. Proboscis Lateralis. [homepage on the Internet] The Fetus.net. [cited 2017 Feb 09]. 13. Available from: https://sonoworld.com/Fetus/page.aspx?id=2370. Figure 3. Preoperative Nasal Videoendoscopy showing obstruction of the nasal cavity. A. Nasal Septum. B. Lateral nasal wall. C. Inferior turbinate. D. Nasal septum. E. Uncinate process. F. Middle turbinate. Figure 4. Before and after photographs (published in full with permission) Significant clinical improvement was noted on follow-up. A literature review of eleven studies on the outcomes of ESS in children with CRS showed that success rate ranged from 82 to 100%. Safety profile was excellent with rate of complications as low as 1.4%.11 However, none of the subjects had congenital anomalies of the nasal cavity. To the best of our knowledge, this is the first report of the successful treatment with ESS of CRS related to proboscis lateralis. Proboscis lateralis presents with aesthetic and functional problems. ESS played a pivotal role in addressing the functional problems and in paving the way towards definitive reconstruction. The first stage of reconstruction aimed to restore the external anatomy and promote normal development and growth of the nose. Future management includes secondary surgical repair after complete facial growth. However, due to the complex nature of this malformation, achieving a favorable result is often a challenge.13 Because of this, it is important to have different services working together for holistic and optimal management. In summary, this paper described the unique manifestations of proboscis lateralis that resulted in chronic rhinosinusitis and OSAS. A multidisciplinary approach involving the otorhinolaryngology, plastic surgery, anesthesiology, pediatrics, psychiatry, and ophthalmology services was essential for the successful management of functional and aesthetic problems arising from proboscis lateralis. The patient is a living testimony to this successful cooperation.