Pierre Robin Sequence: A multidisciplinary approach to treatment and care in Infancy

Dr Joepaul Joy, Dr Sajith Kesavan(Ped Pulmonology,PICU), 
Dr Pramod Subash(CMFS), DR C Jayakumar
AIMS, Kochi
 
 
Sixteen days old term/ AGA/ male ba delivered via LSCS(Indication- Previous LSCS) on Jet feeding technique presented to ER in view of desaturation. 
Echo and BERA done outside were normal. Swallowing study showed cleft palate with normal nasopharynx and mobile vocal cord. On examination child was afebrile, desaturation of 92-93%in RA with no tachypnea. Child was noticed to have retrognathia and cleft palate. Respiratory system examination revealed bilaterally equal air entry with substernal retractions. Other systemic examination were within normal limits.Following differentials were considered:
1. Pierre Robin Sequence 
2. Stickler syndrome
3. DiGeorge syndrome
 
Ba was admitted in the PICU for overnight observation. Pulse oximetry monitoring showed frequent desaturation, hence nasopharyngeal airway was inserted following which there were no desaturations. CMFS consultation sought and advised to continue the same and to review in OPD to check for weight gain. Bystanders were trained for Nasopharyngeal tube care, suctioning and NG tube feeding. After attaining adequate weight gain child underwent Palatoplasty. 
 
Pierre Robin Sequence(PRS)- When present during the later weeks of embryogenesis, micrognathia with relative macroglossia can inhibit the ingrowth and fusion of the secondary palatal shelves. 
It is a triad of micrognathia, glossoptosis and U shaped palatal cleft. It often occurs as a part of a syndrome most commonly Stickler syndrome or DiGeorge syndrome. Mutations in several genes including SOX9 and SLC26A2 genes have been implicated. Children with PRS may have associated gastroesophageal reflux and conductive hearing loss. Infants with PRS may have upper airway obstruction in the neonatal period. Surgical intervention maya be required in severe cases to correct life threateningairway obstruction. Surgical options include:
1. Mandibular distraction osteogenesis
2. Tracheostomy
3. Glossopexy
Surgical closure of the palatal defect often is delayed in children with PRS until the airway is stable(6 to 24 months of age).