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Usefulness of videofluoroscopic swallow study in treacher collins syndrome with cleft palate: a case report.

Hwang DW, Jung KJ, Kim SY, Kim JH - Ann Rehabil Med (2014)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Physical Medicine & Rehabilitation, Eulji University Hospital, Eulji University School of Medicine, Daejeon, Korea.

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.

No MeSH data available.


Related in: MedlinePlus

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

Mentions: A baby girl who was delivered by Caesarean section had multiple anomalies compatible with TCS (Fig. 1A, 1B). She received a tracheostomy and endotracheal intubation had been performed. None of her family members had TCS. A facial computed tomography scan showed hypoplasia of the maxilla and hard palate defects (Fig. 2A, 2B). We confirmed the presence of a Treacher Collins-Franceschetti syndrome 1 (TCOF1) gene mutation by polymerase chain reaction. We confirmatively diagnosed this case as TCS with a de novo frameshift mutation within the TCOF1 gene (c.880del, p.Val294SerfsX122). Her motor development was delayed. She could sit alone at 13 months of age, and could walk alone at 22 months of age. From the neonatal period, sucking was poor, making tube feeding necessary. Excessive saliva was retained in the oral cavity and considerable drooling and nasal regurgitation of saliva were seen. Nasal leakage caused by the cleft palate was observed when she spoke. She underwent palatoplasty at 20 months of age. We carried out serial VFSSs, before and after surgical treatment (Table 1). Based on the VFSS findings, we performed the appropriate management of dysphagia in TCS. We used a modified VFSS protocol from Logemann's study [4]. The lateral view of the VFSS was obtained with the child in an upright sitting position, after she had been fed bariumcontaining free water or milk, yogurt (thick liquid), rice porridge (soft), and cookies (hard). In the first VFSS, the child swallowed barium-containing milk on her own from a bottle with nipple. In the second and third VFSSs, the patient swallowed a half spoonful of milk and free water. Subsequently, it was increased to gradually increasing volumes of liquid and progressed to solid food. For psychological stability and accurate examination, the child was fed by her parents.


Usefulness of videofluoroscopic swallow study in treacher collins syndrome with cleft palate: a case report.

Hwang DW, Jung KJ, Kim SY, Kim JH - Ann Rehabil Med (2014)

Axial views of facial computed tomography show (A) hypoplasia of the maxilla (white arrow) and (B) hard palate defect (black arrow).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4221402&req=5

Figure 2: Axial views of facial computed tomography show (A) hypoplasia of the maxilla (white arrow) and (B) hard palate defect (black arrow).
Mentions: A baby girl who was delivered by Caesarean section had multiple anomalies compatible with TCS (Fig. 1A, 1B). She received a tracheostomy and endotracheal intubation had been performed. None of her family members had TCS. A facial computed tomography scan showed hypoplasia of the maxilla and hard palate defects (Fig. 2A, 2B). We confirmed the presence of a Treacher Collins-Franceschetti syndrome 1 (TCOF1) gene mutation by polymerase chain reaction. We confirmatively diagnosed this case as TCS with a de novo frameshift mutation within the TCOF1 gene (c.880del, p.Val294SerfsX122). Her motor development was delayed. She could sit alone at 13 months of age, and could walk alone at 22 months of age. From the neonatal period, sucking was poor, making tube feeding necessary. Excessive saliva was retained in the oral cavity and considerable drooling and nasal regurgitation of saliva were seen. Nasal leakage caused by the cleft palate was observed when she spoke. She underwent palatoplasty at 20 months of age. We carried out serial VFSSs, before and after surgical treatment (Table 1). Based on the VFSS findings, we performed the appropriate management of dysphagia in TCS. We used a modified VFSS protocol from Logemann's study [4]. The lateral view of the VFSS was obtained with the child in an upright sitting position, after she had been fed bariumcontaining free water or milk, yogurt (thick liquid), rice porridge (soft), and cookies (hard). In the first VFSS, the child swallowed barium-containing milk on her own from a bottle with nipple. In the second and third VFSSs, the patient swallowed a half spoonful of milk and free water. Subsequently, it was increased to gradually increasing volumes of liquid and progressed to solid food. For psychological stability and accurate examination, the child was fed by her parents.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Physical Medicine & Rehabilitation, Eulji University Hospital, Eulji University School of Medicine, Daejeon, Korea.

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.

No MeSH data available.


Related in: MedlinePlus