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. Frontal cartilage

2. Fonticulus nasofrontalis

3. Nasal bone

4. Nasal cartilage

5. Prenasal space

6. Nasal capsule

7. Dura

*

3rd-8th week gestation

Embryology

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.

3rd-8th week of

gestation

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

1 in 30,000

Asia

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. 61% of congenital midline nasal masses in kids

Embryology 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

Firm lobulated non compressible mass

Sinus opening sebaceous or purulent material

Widened nasal bridge

Protruding hair (pathognomonic)

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 high-

intensity 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

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 4-12 weeks

Abnormal Development

Developmental Errors of the central midface

Nasolacrimal duct cyst

Congenital nasal pyriform aperture stenosis

Cleft lip

Most common

Arhinia

Congenital absence of the external nose and nasal airway

Polyrhinia

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 cross-

sectional 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

Obligate nasal breathers

Inability to pass NG tube

Infants/children

Severe nasal obstruction triggered by URI

Anterior Rhinoscopy

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)

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

Average width of pyriform aperture, lateral nasal wall and choana

when comparing CPAS to control patients

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 weeks-

7 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.

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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