Ann Rehabil Med.  2014 Oct;38(5):707-711. 10.5535/arm.2014.38.5.707.

Usefulness of Videofluoroscopic Swallow Study in Treacher Collins Syndrome With Cleft Palate: A Case Report

• Hwang DW
• Jung KJ
• Kim SY
• Kim JH

• KMID: 2266508
• DOI: http://doi.org/10.5535/arm.2014.38.5.707

Abstract

A 3-year-old girl had multiple anomalies compatible with Treacher Collins Syndrome (TCS). From the neonatal period, sucking was poor, making tube feeding necessary. Excessive saliva was retained in the oral cavity. Nasal leakage caused by the cleft palate was observed when she spoke. The initial videofluoroscopic swallow study (VFSS) showed a poor posterior bolus transit and nasopharyngeal regurgitation. A delayed swallow reflex and bolus stasis at the vallecular and pyriform sinuses were recognized. Based on the VFSS findings, the patient underwent palatoplasty at 20 months of age. At approximately 23 months of age, a follow-up VFSS was performed; poor posterior bolus transit, nasopharyngeal regurgitation, and delayed swallow reflex were not observed. Finally, the patient was able to eat ground or chopped foods and solid foods orally. We deem VFSS to be helpful in deciding the appropriate management of dysphagia in TCS.

Keyword

Fluoroscopy; Cleft palate; Treacher Collins

MeSH Terms

Child, Preschool
Cleft Palate*
Deglutition Disorders
Enteral Nutrition
Female
Fluoroscopy
Follow-Up Studies
Humans
Mandibulofacial Dysostosis*
Mouth
Pyriform Sinus
Reflex
Saliva

Figure

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  Fig. 1 Clinical features of the patient with facial abnormalities of Treacher Collins syndrome in the frontal (A) and lateral views (B).

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  Fig. 2 Axial views of facial computed tomography show (A) hypoplasia of the maxilla (white arrow) and (B) hard palate defect (black arrow).

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  Fig. 3 (A) The first videofluoroscopic swallow study (VFSS) performed before surgical treatment shows nasopharyngeal regurgitation (white arrow) of a large amount of liquid during swallowing and (B) the second VFSS performed after surgical treatment do not show any evidence of nasopharyngeal regurgitation.

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