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Congenital Anomalies of the Nose Resident Physician: Sharon Ramos, MD Faculty Mentor & Discussant: Harold S. Pine, MD, FAAP, FACS The University of Texas Medical Branch – UTMB Health Department of Otolaryngology Grand Rounds Presentation February 18, 2015 Series Editor: Francis B. Quinn, Jr., MD, FACS -- Archivist: Melinda Stoner Quinn, MSICS Outline Developmental Errors of the Anterior Neuropore Embryology Encephalocele Nasal Gliomas Nasal Dermoids Developmental Errors of Central Midface Embryology Nasolacrimal Duct Cyst Congenital Nasal Pyriform Aperture Stenosis Cleft lip Arhinia, Polyrhinia and Proboscis lateralis Developmental errors of the Anterior Neuropore Encephaloceles, Nasal gliomas and Dermoids Embryology Neural tube develops between the 3rd and 4th week of gestation Closure begins in the midportion of the embryo before progressing both anteriorly and posteriorly The neural tube gives rise to neural crest cells Embryology As neural tube closes neural crest cells migrate anteriorly and laterally around the eyes to the frontonasal process Nose is formed from the medial and lateral prominence and invagination of the nasal pit Embryology Normal embryonic anatomy of nose and anterior skull base 1. 2. * 3. 4. 5. 6. 7. 3rd-8th week gestation Frontal cartilage Fonticulus nasofrontalis Nasal bone Nasal cartilage Prenasal space Nasal capsule Dura Embryology 3rd-8th week of gestation A funnel shaped dural projection extends inferiorly and anteriorly through a midline opening anterior to the crista galli of the ethmoid bone. This anterior skull base opening is the foramen cecum The dural diverticulum extends inferior and posterior to the frontal and nasal bones and superior and anterior to the nasal cartilage (prenasal space) and terminates at the skin of the nasal bridge With normal regression of the dural diverticulum, the prenasal space is obliterated, the foramen cecum closes and fusion of the fronticulus frontalis occurs forming the nasofrontal suture. Abnormal Development Encephalocele Extracranial herniation of meninges and brain tissue through a defect in the skull. Meningocele presents similarly without herniation of brain tissue Described by location of dehiscence in the skull base Occipital (75%) Sincipital (25%) Basal (~1%) Encephalocele is an extracranial herniation of cranial contents through a defect in the skull. When an encepaholocele includes meninges only it is termed meningocele. Encephaloceles are divided into occipital, sincipital and basal types. Encephalocele Incidence North America and Europe Asia 1 in 30,000 1 in 5,000 No gender predilection or family tendency Commonly associated with other congenital anomalies Microcephaly, hydrocephalus, anopthalmia, corpus callosum dysgenesis Incidence of these lesions vary considerably, ranging from 1 in 30,000 live births in North America and Europe to 1 in 5,000 live births in Asia. Encephaloceles have no family tendency or gender predilection. 40% of affected patients have other associated anomalies s Encephalocele Presentation Bluish Compressible Pulsatile Transilluminates with light Positive Furstenberg’s Test Expansion with compression of bilateral jugular veins Expansion may also be triggered by crying or straining (Valsalva) External (Sincipital) or Internal (Basal) nasal mass Encephalocele MRI Identifies intracranial extension Mass with subarachnoid connection Differentiates between meningoceles and encephaloceles CT Scan Detects skull base defect MRI identifies intracranial extension, helps differentiate between meningocele and encephaolceles. This frontal mass contains brain tissue in continuity with the frontal lobe, this is ans example of nasoethmoidal encephalocele Encephalocele (A) Sincipital Encephalocele (B) Basal Encephalocle A) Sincipital encephaloceles are also known as Frontoethmoidal encephaloceles. They occur between the frontal and ethmoid bones at the foramen cecum immediately anterior to the cribiform plate. They may be further subdivided as nasofrontal, nasoethmoidal and naso-orbital and manifest as external nasal masses B) Generally Basal Encephaloceles arise through the cribiform plate or through the superior orbital fissure and manifest as an intranasal mass Encephaloceles Nasal Glioma Heterotopic glial tissue that lacks a patent CSF communication to subarachnoid space Also known as Nasal cerebral heterotopia Glial heterotopia Incidence More common in males (3:2) No familial tendency Nasal Glioma Abnormal closure of the fonticulus frontalis During retraction of the embryonic dural diverticulum, rests of glial tissue become sequeatered Another theory is that they are possibly encephaloceles which have lost CSF connection Nasal Glioma Presentation Extranasal (60%) Smooth, firm, non-compressible masses, skin telangiectasia Glabella (most common), nasomaxillary suture line Intranasal (30%) Polypoid, pale masses Arise in the lateral nasal wall near the middle turbinate Nasal septum (rare) Combined (10%) Do not transilluminate or enlarge with crying/straining May be present at birth Grows in proportion with the child Gliomas manifest as extranasal, intranasal or combined lesions. Extranasal gliomas are smooth, firm, NONcompressible masses that occur most commonly at the glabella but may arise at the side of the nose or the nasomaxillary suture. Nasal Glioma MRI T1 hypointense, T2 +/hyperintensity 15% fibrous stalk Rare enhancement CT scan Asses the bony anatomy of the skull base Nasal Glioma Intranasal glioma showing a fibrous stalk and are more commonly seen in those that are intranasal (35%) Nasal Dermoids Nasal dermoids 1-3% of all dermoids 10-12% of head and neck dermoids. Embryology 61% of congenital midline nasal masses in kids During development, dura projects through the foramen cecum and attaches to skin Separates from the nasal skin and retracts through foramen cecum If there is a persistent attachment to underling fibrous tissue, nasal capsule or dura, epithelial elements are trapped in the prenasal space Ectodermal and mesodermal elements Hair follicles, sebaceous glands, sweat glands, keratin, squamous epithelial lining Nasal dermoids account for 1-3% of all dermoids and approximatley 10-12% of head and neck dermoids. Dermoids contain ectodermal and mesodermal embryonic elements. The latter include hair follicles, sebaceous glands, and sweat glands and keratin debris. from deremoid cysyrs Dermoids lack glial features of encephaloceles and gliomas Nasal Dermoids Presentation Present at birth - first two decades of life Midline mass or cyst with sinus opening Widened nasal bridge Protruding hair (pathognomonic) Firm lobulated non compressible mass Sinus opening sebaceous or purulent material Minority of cases Intracranial extension in 4-45% Dermoid sinus cysts of the nose present as a midline nasal pit, fistula or infected mass located anywhere from the glabella to the nasal columella. They may secrete sebaceous material or pus and may become intermittently infected causing abscess formation, meningitis even cerebral abscess for those with intracranial extension. Nasal Dermoids Up to 50% have a fistula or sinus tract Tract transverses via the cribiform plate or foramen cecum Tract may attach to dura, falx cerebri or other intracranial structures Cases with intracranial connection pose an increased risk for meningitis or cerebral abscesses Nasal Dermoids CT Scan • • Bifid crista galli and enlarged foramen cecumintracrnial extension Unique features you will see on Ct scan with intracranial dermoids are a bifid crista galli and and an enlarged foramen caecum. White arrow shows bifid critsa galli and black arrow shows a large foramne cecum anteriorly Nasal Dermoids MRI Detects intracranial extension T1 and T2 hyperintensity The crista galli in infants is not ossified or contain bone marrow fat, thus a highintensity signal on T1-weighted images is suggestive of an intracranial dermoid Treatment of Nasal Gliomas, Encephaloceles and Dermoid Cysts Surgical Treatment Direct external excision Elliptical incision around pit Lacrimal probe is used to cannulate the tract to guide dissection A small diamond bur is used to drill around the tract through the nasal bones Nasal bones may be separated along the midline and retracted laterally for better exposure Allows access to dermoids that extend to the dura and/or extending into the crista galli Medial canthal approach (lynch), external rhinoplasty, endoscopic resection • • Unique features you will see on Ct scan with intracranial dermoids are a bifid crista galli and and an enlarged foramen caecum. White arrow shows bifid critsa galli and black arrow shows a large foramne cecum anteriorly Surgical Treatment For Meningioceles, Gliomas limited to nasal cavity Endoscopic repair with clipping the stalk Defect is repaired with free mucosal grafts or mucoperichondrial flap For Encephaloceles, Gliomas and Dermoids with intracranial extension Multidisciplinary approach Transglabellar Subcranial Approach Frontal craniotomy in combination with external Rhinoplasty and lateral rhinotomy approach Developmental Errors of the Central Midface Nasolacrimal Duct Cyst and CNPAS Embryology Dorsal Neural folds form around the eye to form the facial prominences surrounding the stomoduem 4-12 weeks Frontonasal prominence, maxillary and mandibular processes Nasal placodes found in the Frontonasal prominence begin to furrow and form the nasal pits Ridges around this pit are called the lateral and medial nasal prominences come together with maxillary process philtrum, and lip The NLD begins as a thickening of the ectoderm that becomes buried in the mesoderm of the nasal pits between the lateral nasal prominence and the maxillary process Canalization of the NLD occurs post natally Abnormal Development Developmental Errors of the central midface Nasolacrimal duct cyst Congenital nasal pyriform aperture stenosis Cleft lip Arhinia Congenital absence of the external nose and nasal airway Polyrhinia Most common Double nose/accessory nostril Septal, and nasal passage duplication +/-choanal atresia Proboscis lateralis Tubular sleeve of skin attached to the inner canthus of the orbit and ipsilateral heminasal aplasia Arhinia Proboscis lateralis Nasolacrimal Duct Cyst Nasolacrimal duct development begins as a thickening of the ectoderm that becomes buried in the mesoderm of the nasal pits. This buried ectoderm canalizes from superior to inferiorly postnatally. Failure of the nasolacrimal ectodermal tract to canalize results in NLDC. The most frequent site of incomplete canalization is at the junction of the NLD and the nasal mucosa, the valve of Hasner. 30% of all neonates have distal nasolacrimal duct obstruction at birth Spontaneous resolution by 9 months to 1 year, (NLDC may go unnoticed if unilateral) Bilateral occurs in 14%, of neonates and are more symptomatic because neonates are obligate nasal breathers Nasolacrimal Duct Cyst Presentation Epiphora Facial swelling Nasal obstruction Feeding difficulties Respiratory distress (if bilateral) Bluish/red discoloration inferior to the medial canthus Nasal endoscopy will show a mass below the inferior turbinate Nasolacrimal Duct Cyst Diagnosis is made on physical exam/nasal endoscopy Imaging Not required Nasolacrimal duct mucocele. Coronal computed tomographic images a–c show enlargement of the lacrimal sac, distension of the nasolacrimal duct, and an intranasal component in the inferior meatus, which corresponds to the inferior extent of the left-sided mucocele Nasolacrimal Duct Cyst Conservative treatment Massage, warm compresses, topical antibiotics Surgical Endoscopic Marsupialization (microdebrider, probe, ) Probing of NLD via punctum into the nose +/-Fluorescein dye using a 23 gauge cannula to confirm patency +/-NL canal stenting or silicone intubation to preserve patency/prevent recurrence Varying treatment approaches have been proposed for the management, such as massage, warm compresses, topical or parenteral antibiotics, nasolacrimal probing, silastic stenting and intranasal endoscopic cyst marsupialization. Endoscopic marsupialization using the Microdebrider allows for resection of the entire cyst wall without injuring the valve of Hasner and inferior turbinate. Congenital Nasal Pyriform Aperture Stenosis (CNPAS) Bony overgrowth of the nasal process of the maxilla Pyriform aperture is the most anterior and narrowest part of the nasal cavity Any change causing a decrease in this cross-sectional area results in exponential increase in airway resistance resulting in nasal obstruction CNPAS may occur in isolation or may manifest as part of holopronsencepahly sequence Failure of forebrain to divide into cerebral hemispheres, absence of anterior pituitary, submucous cleft palate, hypoplastic maxillary sinuses, +/-prominent mega incisor Congenital nasal pyriform aperture stenosis (CNPAS) results from bony overgrowth of the nasal process of the maxilla. The pyriform aperture is a pear-shaped bony inlet comprising the most anterior and narrowest bony portion of the nasal airway; therefore, any overgrowth causes a decrease in crosssectional area with resultant exponential increase in airway resistance and associated obstruction CNPAS ay occur in isolation or may be part of the holoprosencephaly spectrum of congenital midline lesions. Congenital Nasal Pyriform Aperture Stenosis (CNPAS) Presentation Newborns Stertor, Respiratory distress/failure, cyanosis, feeding difficulties Severe nasal obstruction triggered by URI Anterior Rhinoscopy Inability to pass NG tube Infants/children Obligate nasal breathers Narrowed anterior nasal passage with bony thickening medially Single central mega incisor (60%) Congenital Nasal Pyriform Aperture Stenosis (CNPAS) Maxillofacial CT Scan Confirms diagnosis Width of pyriform aperture is defined as the distance between the medial aspects of the maxilla at the level of the inferior meatus. <11mm in a full term infant (Belden et al.) Study by Reeves et al. suggests that the cutoff should be smaller than 11 mm because the average pyriform aperture width for the control group in his study was 10.1 mm and those with CPAS ranged between 5-6mm (avg 5.3mm) Merea et al. In his case series which included both premature and full-term infants patients with CNPAS had a pyriform aperture of < 7 mm (avg 5.6mm) Congenital Nasal Pyriform Aperture Stenosis (CNPAS) (cont’d) Axial CT is typically the imaging method of choice and confirms the diagnosis. The width of the pyriform aperture is defined as the distance between the medial aspects of the maxilla at the level of the inferior meatus. More recent study by Reeves et al (from MUSC). suggests that the cutoff should be smaller than 11 mm because the average pyriform aperture width for the control group (13 patients) was 10.1 mm with an average of 5.3mm in patients with CNPAS.[4] Patients in neonates and this case series included both premature and full-term infants who had a pyriform aperture of 7 mm or less with an average pyriform aperture width in line with those reported by Reeves et al. (5.6 mm in our study vs. 5.3 mm). Belden in 1999 evaluated CT features of CNPAS in 6 patients. Congenital Nasal Pyriform Aperture Stenosis (CNPAS) Treatment Conservative Medical treatment Ciprofloxacin 0.3%/dexamethasone 0.1% drops Decongestant Nasal Saline CPAP Some authors suggest a width >5mm will respond well to medical management if no underlying history of respiratory failure Reeves et al. All children with nasal obstruction receive a trial of medical management prior to CT scanning to reduce radiation exposure Some authors have suggested at a width > 5mm may be predictive of successful treatment with medical management ciprodex, afrin and nasal saline. Some suggest this treatment in any child with nasal obstruction and a concern for CNPAS prior to ct scanning to reduce radiation risk. Congenital Nasal Pyriform Aperture Stenosis (CNPAS) Surgical Treatment Reserved for those refractory to topical treatment + feeding difficulties and respiratory distress Traditional Sublabial approach with subperiosteal dissection to expose the pyriform aperture The pyriform aperture widened by drilling the bony overgrowth with a 1-2 mm diamond bur. Post-operative nasal stents x 4 weeks Congenital Nasal Pyriform Aperture Stenosis (CNPAS) Reeves et al. Traditional sublabial approach +widening of the pyriform aperture and nasal cavity Dissection is carried as far posteriorly without injury of NLD or inferior turbinate Nasal Stents x 7-10 days Patients CNPAS (7) were seen to have an overall narrowing of the nasal cavities when compared to control groups (13) LW-1is 50% of the distance between PA and CH LW-2 75% of the distance Congenital Nasal Pyriform Aperture Stenosis (CNPAS) Average width of pyriform aperture, lateral nasal wall and choana when comparing CPAS to control patients Site Mean control (SD) Mean CPAS (SD) p-Values Pyriform aperture (PA) 10.1 mm (0.30) 5.3 mm (0.08) p < 0.01 LW-1 13.5 mm(0.28) 8.7 mm (0.2) p < 0.01 LW-2 12.5 mm (0.23) 10.1 mm (0.13) p = 0.02 Choana (CH) 11.7 mm (0.19) 10.9 mm (0.24) p = 0.46 Reeves et al. Congenital Nasal Pyriform Aperture Stenosis (CNPAS) Grunstein et al. Traditional sublabial approach + Inferior Turbinate reduction with 2mm microdebrider blade No post-op stents Stents are known to cause clogging and internal nasal scarring 6 patients were treated between the ages of 2 weeks7 months, all 6 patients were clear of airway obstruction post-op and on follow-up (4wks-24 months) Conclusion Neonates are obligate nasal breathers Radiologic findings assist in determining diagnosis and surgical planning MRI is preferred to assess for intracranial extension CT is used to asses the skull base Discussant: Harold S. Pine, MD, FAAP, FACS An excellent review of pediatric nasal masses. It all looks so nice and pretty when it’s presented in a Powerpoint presentation but when these things happen in real life, it’s difficult, it’s hard to figure out what exactly is going on and the approach is not always so clear cut. When we’re faced with kids with some sort of intranasal mass that looks a little bit weird don’t be lured into doing a biopsy without appropriately working the kid up. Sometimes in the real world situations arise where we get pressure from other people that don’t know better to do things that we know are not in the best interests of the patient. Don’t underestimate a little bit of patience, mother nature and medical therapy. I have lots of experience with our own NICU here where they’re very nervous and up in arms and wanting something to be done urgently to fix the problem, when in fact a few days of Ciprodex nose drops, some saline and a little bit of time can get a lot of these kids through the trouble spot. So I certainly agree with how MUSC does it. Continued next page Discussant: Harold S. Pine, MD, FAAP, FACS Finally, just a thought about a patient I saw over in Asia where these things are more common, and I sent out a picture to you of this little kid with a large nasal mass. It really struck me how dependent we all are here in the U.S. with all of our teammates. I had the scans and yet looking at the scans I couldn’t be sure exactly what this was. It was frustrating not to have a good neuroradologist to help me say this is clearly an encephalocele or this is clearly a glioma. In the end my recommendation was that this is probably an encephalocele or a glioma, and you will probably need a neurosurgeon to help with this. While that seems like common sense here, in other countries, getting that cooperation and coordination is not so easy to accomplish, especially when there are islands of specialty care hospitals. In the end, the ENT guys tried to take out this nasal mass going just right over the mass and it turned into a horrible freak show over the ensuing months with what sounded like infections and CSF leaks. I don’t have any further followup at this point, but it goes to show you that some thought before you go in and operate can probably save you some grief down the road. Bibliography 1. Snyderman et al. Endoscopic endonasal surgery for dermoids. Otolaryngol Clin N Am 44(2011) 981-987. 2. Bonne et al. Endoscopic approach for removal of intranasal nasal glial heterotopias. Rhinology 50 (2012) 211-217. 3. Reeves et al. Nasal cavity dimensions in congenital pyriform aperture stenosis. International Journal od pediatric Otorhinolaryngology. 77(2013) 1830-1832. 4. Merea et al. CPAS: Surgical Approach with combined sublabial bone resection and inferior turbinate reduction without stents. The laryngoscope. March 2014. 5. Gnagi SH, Schraff SA. Nasal Obstruction in Newborns. Ped Clin N Am 2013 6. Cheng J, Kazahaya K. Management of Pediatric Nasal Dermoids with Intracranial Extension by Direct Excision. Otol-Head Neck S 2013; 148(4): 694-6. 7. Duncan NO. Combined Approach for Complete Excision of Congenital Nasal Masses in Children. Oper Tech Head Neck S 1994; 5(1): 18-21. Yuca K, Varsak YK. Thornwaldt’s Cyst. Eur J Gen Med 2012; 9(Suppl 1) 26-29 8. Skinner LJ et al. Radiology Quiz Case. Thornwaldt cyst. Arch Otolaryngol Head Neck Surg 2003; 129 (10):1137-8. 9. Wright C et al. Evaluation of Congenital Midline Nasal Masses. Quinn Online textbook of Otolaryngology. 2006. 10. Wootten and Elluru. Congenital malformations of the nose. Cummings Otolaryngology Head and Neck Surgery. 5th Ed. Pages 2686-2696. Congenital Anomalies of the Nose Resident Physician: Sharon Ramos, MD Faculty Mentor & Discussant: Harold S. Pine, MD, FAAP, FACS The University of Texas Medical Branch – UTMB Health Department of Otolaryngology Grand Rounds Presentation February 18, 2015 Series Editor: Francis B. Quinn, Jr., MD, FACS -- Archivist: Melinda Stoner Quinn, MSICS
