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Year : 2020  |  Volume : 9  |  Issue : 4  |  Page : 292-294

Congenital nasal pyriform aperture stenosis with holoprosencephaly and Dandy–Walker malformation

Department of Paediatrics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Seri Kembangan, Selangor, Malaysia

Date of Submission04-May-2020
Date of Decision24-Jun-2020
Date of Acceptance07-Jul-2020
Date of Web Publication01-Oct-2020

Correspondence Address:
Dr. Intan Hakimah Ismail
Department of Paediatrics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Seri Kembangan, Selangor
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcn.JCN_55_20

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Congenital nasal pyriform aperture stenosis (CNPAS) is a recognized but rare and unusual cause of nasal airway obstruction in neonates. We describe an infant who has CNPAS with megaincisor, holoprosencephaly, agenesis of the corpus callosum with Dandy–Walker malformation, and central diabetes insipidus to highlight the importance of recognizing the variable abnormalities associated with this condition.

Keywords: Central diabetes insipidus, congenital nasal pyriform aperture stenosis, dandy-walker malformation, holoprosencephaly, respiratory distress

How to cite this article:
Ismail IH, Abidin MA. Congenital nasal pyriform aperture stenosis with holoprosencephaly and Dandy–Walker malformation. J Clin Neonatol 2020;9:292-4

How to cite this URL:
Ismail IH, Abidin MA. Congenital nasal pyriform aperture stenosis with holoprosencephaly and Dandy–Walker malformation. J Clin Neonatol [serial online] 2020 [cited 2023 Feb 2];9:292-4. Available from: https://www.jcnonweb.com/text.asp?2020/9/4/292/297005

  Introduction Top

Congenital nasal pyriform aperture stenosis (CNPAS) is an unusual cause of nasal airway obstruction in neonates and potentially life-threatening. Although CNPAS is one of the recognized causes of respiratory distress, it is rarely described in newborns. Because of its clinical presentation that resembles choanal atresia, CNPAS often goes unnoticed, especially if it presents as an isolated condition. Presentation of nasal airway obstruction with associated craniofacial anomalies warrants further imaging investigation that leads to a diagnosis of CNPAS. Therefore, it is crucial for an immediate diagnosis in order to initiate an appropriate therapy.

  Case Report Top

A 3.2 kg female infant from a nonconsanguineous marriage was born at 37 weeks' gestation via spontaneous vaginal delivery to a para 2 + 1 mother who had gestational diabetes mellitus (GDM) on subcutaneous insulin. Shortly after birth, she developed respiratory distress requiring transfer to the neonatal intensive care unit. Clinical examination revealed soft facial dysmorphism with hypotelorism, depressed nasal bridge, and mild tachypnea with subcostal retractions. There were no other craniofacial anomalies observed. However, the free passage of a size 5 Fr nasogastric tube was not achieved on the left nares and with difficulty on the right side. An ophthalmologic examination was normal. The obstructive respiratory distress worsened within the next few days, and she had recurrent upper airway obstruction thereafter, which at times warranted ventilation followed by prolonged oxygen support. She also had episodes of sepsis requiring multiple broad-spectrum antibiotics and feeding difficulties, which was clinically treated as gastroesophageal reflux with lansoprazole and metoclopramide.

Computed tomographic (CT) scan of the paranasal sinuses demonstrated overgrowth nasal processes of the maxilla causing obstruction of pyriform apertures [Figure 1] with maxillary megaincisors [Figure 2] and patent posterior nasal choanae. Magnetic resonance imaging (MRI) of the brain revealed semilobar holoprosencephaly with the absence of the corpus callosum and evidence of Dandy–Walker malformation (DWM) [Figure 3]. Blood glucose level, thyroid function test, and cortisol level were normal. However, she had persistent hypernatremia (ranging from 155 to 164 mmol/L) with diluted urine (urine-specific gravity: 1.005) without significant polyuria (urine output varies between 1 and 3 ml/kg/h). The result of the chromosomal study was normal. However, an array comparative genomic hybridization (CGH) was not done due to lack of resources.
Figure 1: Narrow nasal inlet and bony overgrowth of the nasal process of the maxilla (arrow)

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Figure 2: Unerupted solitary (median) maxillary central incisor (arrow)

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Figure 3: Dandy–Walker malformation: Hypoplasia/agenesis of the inferior vermis with large cerebrospinal fluid space expanding the posterior fossa and continuous with the fourth ventricle

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She was initially managed with oxymetazoline, but it did not relieve the nasal obstruction. Subsequently, she underwent dilatation using endotracheal tube up to the size 3.0 mm for both nostrils and was stented for 2 weeks. The management of diabetes insipidus (DI) was initiated with desmopressin, and she responded well, as evidenced by the normalized serum sodium level. She was discharged without further respiratory distress at 2 months of age.

  Discussion Top

The nasal pyriform aperture is anatomically bounded superiorly by the nasal bone, laterally by the nasal process of the maxilla, and inferiorly by the maxilla. CNPAS is a defined clinical entity that causes neonatal airway obstruction. The bony overgrowth of the nasal process of the maxilla during maxillary ossification is believed to have caused the narrowing of the nasal aperture.[1] Since newborns are known to be obligate nasal breathers, the stenotic part will result in respiratory difficulty, characterized by episodic apnea and cyclical cyanosis, relieved by crying and frequently associated with sleeping difficulties and feeding problems. The clinical symptoms often resemble that of bilateral posterior choanal atresia. Symptom severity depends on the degree of obstruction, ranging from noisy breathing similar to nasal congestion to a life-threatening condition. Traditionally, failure to pass a nasogastric tube of thickness 3–4 mm raises the suspicion of a bony nasal obstruction.

Initially, CNPAS was believed to be an isolated nasal anomaly, but later, it has been reported to be associated with a range of craniofacial and brain anomalies.[2],[3] It is regularly associated (in about half of cases) with a solitary maxillary central incisor, which has long been known to be linked with other midline developmental defects such as holoprosencephaly and/or pituitary deficiencies, leading to endocrine abnormalities.[2],[3],[4],[5] Holoprosencephaly has been associated with premaxillary dysgenesis and chromosomal anomalies (trisomy 13 and 18).[1],[2],[3] CT scan of the nasal cavity should be performed to determine the cause and extent of nasal obstruction and to rule out choanal atresia. Brain MRI should be carried out to identify subtle midline dysgenesis and pituitary gland anomalies.

Our patient has microcephaly, hypotelorism, nasal pyriform aperture stenosis, SCMI, holoprosencephaly, central DI, agenesis of the corpus callosum, and evidence of DWM. DI was clinically diagnosed by persistent hypernatremia with diluted urine but without a significant polyuria. Water deprivation test will be too distressful to perform in neonates. However, it is too early to determine conclusively whether our patient will have deficiencies of anterior pituitary hormones. Thus far, basic endocrine investigations revealed normal results.

Agenesis of the corpus callosum has a high incidence of association with DWM. DWM has been linked with many chromosomal abnormalities and genetic syndromes. Recently, McCormack et al. described two patients with partial deletions of the long arm of chromosome 13 who had multiple congenital abnormalities including holoprosencephaly and DWM.[6] Although the result of the chromosomal study in our patient was reported as normal, routine array CGH is not available in our setting. Therefore, this association could not be established. However, there were no reported cases so far that link CNPAS with holoprosencephaly and DWM. In addition, maternal history of GDM could also be the cause of multiple congenital anomalies in this case.

The management of CNPAS is based on the severity of symptoms. Immediate intubation and ventilation may be required. Topical treatment and nasal stenting are given for mild symptoms, whereas surgery should be considered in those with repeated intubations, feeding and sleeping difficulties, and unresponsiveness to continuous positive airway pressure.

CNPAS is an important cause of neonatal nasal obstruction. The clinical symptoms resemble that of posterior choanal atresia; hence, it should be included in the differential diagnosis of congenital nasal airway obstruction in neonates and children. CNPAS may represent a microform of holoprosencephaly spectrum. Associated chromosomal abnormalities and pituitary hormonal deficiencies have been reported but not DWM. We believe that this is the first reported case of such association. CT scan of the nasal cavity is required to make a final diagnosis. Careful assessment for other midline defects, including cranial MRI and complete endocrine studies, is justified for early recognition and prompt treatment of hypopituitarism.

How does this study make a difference in general practice?

  • Newborns and infants are obligate nasal breather; therefore, any nasal deformities can cause upper airway obstruction, which results in respiratory distress
  • Although CNPAS is a rare cause of nasal airway obstruction, it mimics the clinical presentation of choanal atresia which can lead to a different course of management
  • This case would increase awareness about the disease and highlight the importance of recognizing the typical findings of CNPAS in cases undergoing imaging evaluation for nasal airway obstruction.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.


We thank the patient for the verbal consent given. We also thank the nursing staff for their help in co-managing the patient.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

van Den Abbeele T, Triglia JM, François M, Narcy P. Congenital nasal pyriform aperture stenosis: Diagnosis and management of 20 cases. Ann Otol Rhinol Laryngol 2001;110:70-5.  Back to cited text no. 1
Arlis H, Ward RF. Congenital nasal pyriform aperture stenosis. Isolated abnormality vs developmental field defect. Arch Otolaryngol Head Neck Surg 1992;118:989-91.  Back to cited text no. 2
Tavin E, Stecker E, Marion R. Nasal pyriform aperture stenosis and the holoprosencephaly spectrum. Int J Pediatr Otorhinolaryngol 1994;28:199-204.  Back to cited text no. 3
Hui Y, Friedberg J, Crysdale WS. Congenital nasal pyriform aperture stenosis as a presenting feature of holoprosencephaly. Int J Pediatr Otorhinolaryngol 1995;31:263-74.  Back to cited text no. 4
Beregszàszi M, Léger J, Garel C, Simon D, François M, Hassan M, et al. Nasal pyriform aperture stenosis and absence of the anterior pituitary gland: Report of two cases. J Pediatr 1996;128:858-61.  Back to cited text no. 5
McCormack WM Jr., Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, et al. Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet A 2003;118A: 384-9.  Back to cited text no. 6


  [Figure 1], [Figure 2], [Figure 3]


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