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2011-06-14-14 Answer to the case of the week #304 © Bronshtein www.TheFetus.net


Answer to the case of the week #304

October 13, 2011 - October 27, 2011

Moshe Bronshtein, MD.

Department Obstetrics Gynecology, Rambam Medical Center, Haifa, 31096 Israel.


Case report

This is a case of a 34 year old G5 P2 who was referred to our department at 15 weeks of gestation for a cystic facial mass which was assumed to be an internal encephalocele.
Patient's personal and family history were non-contributive. She had two previous uncomplicated pregnancies and two missed abortions.
Our diagnosis based on the ultrasound exam was a choanal atresia.The cystic structure was a mucous plug inside the choana with atresia. We did not detect any other associated finding.

Choanal atresia and stenosis is an isolated finding in approximately 26% of cases, unilateral cases are more likely to be isolated (53%) than bilateral cases (98%). 50% of cases are associated with a CHARGE syndrome (coloboma, heart defect, atresia choanae, retarded growth, genitourinary and ear anomalies). Other associated anomalies described in the literature include chromosomal abnormalities and single-gene defects.
 
Patient decided for the pregnancy termination. The pathology examination confirmed our diagnosis of the unilateral choanal atresia. The eye examination could not rule out the coloboma [1]. 

Images 1,2: Sagittal view of the fetal face, note cystic choana with atresia (arrow) and inferior nasal concha (*).

 

Images 3,4: The axial view of the nasal cavity, arrow indicates the unilateral choanal atresia. 

 

Images 5,6: The oropharynx, note the choanal atresia (arrow).

 

Videos 1,2: Video 1 shows oropharynx with one open choana and the other choana with atresia. Video 2 shows a sagittal view of the fetal face, note the cystic choana with atresia, you can see the inferior concha.

 

Videos 3,4: Videos shows an axial view of the nasal cavity, note choanal atresia.

 

Images 7,8: 3D reconstruction of the CT images of the nasal cavity, choanal atresia is nicely visible (arrow).

 

Images 9-11: 3D CT of the fetal face, note the atresia of the right choana.

 



Images 12, 13: Injection of the dye into the nostrils. Image 12 shows the dye collected in oropharynx (white arrow) after passing through the patent left choana. Image 13 shows a collection of the dye around the right eye (yellow arrow) after injecting it into the right nostril. The passage via the right choana to the orpharynx (white arrow) was blocked due to the choanal atresia.


 

Image 14, 15: Pathology specimens showing both eyes (blue asterixis) and oropharynx with patent left choana (green arrow and area on the image 15) and atretic right choana (red arrow and area on the image 15).

 


References:

1. Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ.Characterization of congenital anomalies in individuals with choanal atresia.Arch Otolaryngol Head Neck Surg. 2009 Jun;135(6):543-7.

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