Pyriform Aperture Stenosis: Difference between revisions
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{{infobox Disease | {{infobox Disease | ||
|Title = | |Title = | ||
|Aliases = | |Aliases = Congenital Nasal Pyriform Aperture Stenosis (CNPAS) | ||
|Image = [[Human skull with piriform aperture circled.png]] | |Image = [[Human skull with piriform aperture circled.png]] | ||
|Caption = | |Caption = | ||
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=== History === | === History === | ||
- | The earliest described case of congenital pyriform aperture stenosis repair in the literature was by Douglas in 1952.<ref>DOUGLAS B. The relief of vestibular nasal obstruction by partial resection of the nasal process of the superior maxilla. Plastic and Reconstructive Surgery. 1952 Jan 1;9(1):42-51.</ref> | ||
== Pathophysiology == | == Pathophysiology == | ||
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=== Disease Etiology === | === Disease Etiology === | ||
Congenital pyriform aperture stenosis is a consequence of failed recanalization of the nasal cavity during development. After the anterior nares are formed from fusion of the lateral and medial nasal processes (at approximately week 8 of gestation), the nasal cavity is blocked by an epithelial plug. After approximately 24 weeks, this epithelial plug is supposed to resorb, resulting in a patent nasal airway. It is though that failure of this process results in a stenotic pyriform aperture at birth.<ref>Papesch E, Papesch M. The nasal pyriform aperture and its importance. Otorhinolaryngol Head Neck Surg. 2016;1(4):89-91.</ref> | |||
=== Genetics === | === Genetics === | ||
There is no consistent genetic variant that has been identified as causative for congenital pyriform aperture stenosis. One study was able to identify genetic variants in two cases: a 2p16.3 deletion and a 7q36 deletion, the latter of which resulted in alterations to the Sonic Hedgehog gene.<ref>Ruda J, Grischkan J, Allarakhia Z. Radiologic, genetic, and endocrine findings in isolated congenital nasal pyriform aperture stenosis patients. International Journal of Pediatric Otorhinolaryngology. 2020 Jan 1;128:109705.</ref> | |||
== Diagnosis == | == Diagnosis == | ||
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=== Physical Examination === | === Physical Examination === | ||
Physical exam can be nonspecific aside from nasal congestion / narrow nasal cavities. Key findings can include: | |||
* Difficulty passing nasogastric tubes | |||
* Narrow anterior nasal cavity on flexible or rigid nasal endoscopy | |||
Other key features of midline defects should be considered, as this may present as a part of the holoprosencephaly spectrum. With midline defects, there can be endocrine dysfunction as a part of developmental issues related to the hypothalamic-pituitary axis (HPA). As many as 75% of cases may also present with a solitary maxillary central incisor (SMCI).<ref>Lo FS, Lee YJ, Lin SP, Shen EY, Huang JK, Lee KS. Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis. European journal of pediatrics. 1998 Dec;157(1):39-44.</ref> | |||
=== Imaging === | === Imaging === | ||
CT maxillofacial will demonstrate decreased pyriform aperture diameter, especially on axial view. A pyriform aperture width of less than 11 mm is diagnostic for pyriform aperture stenosis.<ref>Belden CJ, Mancuso AA, Schmalfuss IM. CT features of congenital nasal piriform aperture stenosis: initial experience. Radiology. 1999 Nov;213(2):495-501.</ref> | CT maxillofacial will demonstrate decreased pyriform aperture diameter, especially on axial view. A pyriform aperture width of less than 11 mm is diagnostic for pyriform aperture stenosis.<ref>Belden CJ, Mancuso AA, Schmalfuss IM. CT features of congenital nasal piriform aperture stenosis: initial experience. Radiology. 1999 Nov;213(2):495-501.</ref> MRI should be considered in these patients in order to assess for other midline variants as a part of the holoprosencephaly spectrum. | ||
=== Differential Diagnosis === | === Differential Diagnosis === | ||
Latest revision as of 19:11, 21 July 2025
Overview
Pyriform aperture stenosis is a congenital malformation resulting in a narrowed pyriform aperture and subsequent nasal obstruction.
History
The earliest described case of congenital pyriform aperture stenosis repair in the literature was by Douglas in 1952.[1]
Pathophysiology
Relevant Anatomy
Key anatomy includes the structures of the nasal cavity and midface.
-
Skull with highlighted pyriform aperture
-
Midface anatomy
Disease Etiology
Congenital pyriform aperture stenosis is a consequence of failed recanalization of the nasal cavity during development. After the anterior nares are formed from fusion of the lateral and medial nasal processes (at approximately week 8 of gestation), the nasal cavity is blocked by an epithelial plug. After approximately 24 weeks, this epithelial plug is supposed to resorb, resulting in a patent nasal airway. It is though that failure of this process results in a stenotic pyriform aperture at birth.[2]
Genetics
There is no consistent genetic variant that has been identified as causative for congenital pyriform aperture stenosis. One study was able to identify genetic variants in two cases: a 2p16.3 deletion and a 7q36 deletion, the latter of which resulted in alterations to the Sonic Hedgehog gene.[3]
Diagnosis
Patient History
It is important to take a focused history related to any airway or feeding symptoms, including:
- Prolonged feeding times
- Needing frequent breaks during feeds
- Cyanosis or increased respiratory effort, especially with feeding
- BRUE's
- Difficulty placing nasogastric tubes
- Family history of genetic conditions with anatomic malformations
Physical Examination
Physical exam can be nonspecific aside from nasal congestion / narrow nasal cavities. Key findings can include:
- Difficulty passing nasogastric tubes
- Narrow anterior nasal cavity on flexible or rigid nasal endoscopy
Other key features of midline defects should be considered, as this may present as a part of the holoprosencephaly spectrum. With midline defects, there can be endocrine dysfunction as a part of developmental issues related to the hypothalamic-pituitary axis (HPA). As many as 75% of cases may also present with a solitary maxillary central incisor (SMCI).[4]
Imaging
CT maxillofacial will demonstrate decreased pyriform aperture diameter, especially on axial view. A pyriform aperture width of less than 11 mm is diagnostic for pyriform aperture stenosis.[5] MRI should be considered in these patients in order to assess for other midline variants as a part of the holoprosencephaly spectrum.
Differential Diagnosis
Management
Medical Management
Surgical Management
Outcomes
Complications
Prognosis
References
- ↑ DOUGLAS B. The relief of vestibular nasal obstruction by partial resection of the nasal process of the superior maxilla. Plastic and Reconstructive Surgery. 1952 Jan 1;9(1):42-51.
- ↑ Papesch E, Papesch M. The nasal pyriform aperture and its importance. Otorhinolaryngol Head Neck Surg. 2016;1(4):89-91.
- ↑ Ruda J, Grischkan J, Allarakhia Z. Radiologic, genetic, and endocrine findings in isolated congenital nasal pyriform aperture stenosis patients. International Journal of Pediatric Otorhinolaryngology. 2020 Jan 1;128:109705.
- ↑ Lo FS, Lee YJ, Lin SP, Shen EY, Huang JK, Lee KS. Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis. European journal of pediatrics. 1998 Dec;157(1):39-44.
- ↑ Belden CJ, Mancuso AA, Schmalfuss IM. CT features of congenital nasal piriform aperture stenosis: initial experience. Radiology. 1999 Nov;213(2):495-501.