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Published on: December 6, 2016
Late presentation of upper airway obstruction in Pierre Robin sequence
A C Wilson1, D J Moore, M H Moore
1Department of Pulmonary Medicine, Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia. wilsona@mail.wch.sa.gov.au
Pierre Robin sequence infants often present late with severe airway obstruction, indicated by failure to thrive. Polysomnography is crucial for accurate diagnosis and monitoring treatment effectiveness.
Area of Science:
- Pediatric Pulmonology
- Clinical Genetics
- Neonatology
Background:
- Pierre Robin sequence (PRS) is a congenital condition characterized by micrognathia, glossoptosis, and cleft palate.
- Upper airway obstruction (UAO) is a significant complication in PRS, potentially leading to feeding difficulties and failure to thrive.
- Early identification and management of UAO are critical for improving outcomes in infants with PRS.
Observation:
- A retrospective review identified 11 infants with PRS over five years.
- Ten patients (91%) experienced significant UAO, with seven presenting late (24-51 days).
- Failure to thrive was observed in six of the seven late-presenting infants, correlating with UAO severity.
Findings:
- Nasopharyngeal tube placement effectively normalized growth by treating UAO.
- Clinical assessment by pediatricians/neonatologists in the first week was insufficient to predict UAO severity.
- Polysomnography significantly enhanced diagnostic accuracy for UAO and treatment monitoring.
Implications:
- Late presentation of UAO in PRS is common, necessitating proactive respiratory monitoring.
- Clinical signs alone are inadequate for assessing UAO severity in PRS infants.
- Objective measures like polysomnography are essential for timely diagnosis and management of UAO in PRS.
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