Surgical management of a large cleft palate in a Pierre Robin sequence: A case report and review of literature.

Pierre Robin syndrome or Pierre Robin sequence (PRS) is a congenital etiologically heterogeneous condition presenting with various malformations. Here we are reporting the surgical management of an 18-month-old female baby who was referred from Department of Pediatrics with a complaint of a large cleft palate. She was taken up for palatoplasty with consent for elective tracheostomy. After genetic evaluation, the authors conclude that the presented case was a PRS in isolation with mild cardiac anomalies and an inferiorly placed hypoplastic epiglottis. Patient should be followed up and growth modifications of the jaws should be done.

Pierre Robin syndrome or Pierre Robin sequence (PRS) is a congenital etiologically heterogeneous condition presenting with various malformations. PRS is essentially a sequence, that is, a chain of developmental malformations, one following the next.[1] The syndrome mainly features a congenital small retrusive mandible (retromicrognathia), cleft palate and glossoptosis (backward displacement of the tongue base) and manifesting in respiratory embarrassment due to upper airway obstruction. It is also been postulated that some of the mandibular malformation results from antenatal orofacial hypomobility, usually related to a functional defect in the rhombencephalon (hindbrain).[2]

Review of Literature

Pierre Robin sequence may occur in isolation, but it is often part of an underlying disorder or syndrome. It is very commonly associated with Stickler syndrome. Various disorders causing PRS are velocardiofacial syndrome, fetal alcohol syndrome, and Treacher Collins syndrome.[3]

Although the condition was first mentioned by Shukowsky,[4] where he suggests of symptomatic relief by means of surgical tongue fixation, it was Pierre Robin[5] the French stomatologist who 12 years later in 1923 described the syndrome and the essential problems manifested because of micrognathia and introduced the term glossoptosis.[6]

Though in the initial description palatal cleft was not mentioned current literature suggests that micrognathia is the primary anomaly that causes both cleft palate and upper airway obstruction in PRS.[1] Epiglottal hypoplasia though rare has been associated with the condition.[7]

Congenital heart disease has been reported in about 20% of PRS patients of which ventricular septal defect (VSD), patent ductus arteriosus (PDA), and atrial septal defect being most common.[8]

Recently, a genetic cause to PRS was identified, which may be due to genetic anomalies at chromosomes 2, 11, or 17. A locus for PRS has been mapped to chromosome 17q24 in a four-generation family. Investigators found significantly reduced SOX9 and KCNJ2 mRNA expression in patients, using array comparative genome hybridization analysis with human whole genome oligonucleotide microarray kits 244K in PRS, and the nonsyndromic PRS may be caused by both SOX9 and KCNJ2 dysregulation.[9]

Case Report

An 18-month-old baby girl presented to our clinic being referred from pediatrics with a complete cleft palate. She was born to nonconsanguineous parents, through lower segment Caesarean section due to fetal distress. The mother gave a history of fever multiple times during the first trimester of pregnancy.

A DNA mapping with a CGH-244k mentioned of a PRS. Clinical examination showed microretrognathia, short neck, saddle nose, small eye and a wide “U” shaped cleft palate and a moon face appearance [Figures 1 and 2]. She presented with nasal regurgitation during feeding. She also presented with congenital cardiac anomalies namely; tiny mid-muscular VSD, tiny PDA, and myxomatous mitral valve. A diagnosis of PRS was made. She did not give a history of respiratory distress during her 18 months period.

Figure 1

Preoperative intraoral view

Figure 2

Intubated patient with retrusive mandible

She was taken up for palatoplasty with consent for elective tracheostomy in an event of intubation failure for general anesthesia. Intubation through direct vision was difficult and failed after multiple attempts to visualize the epiglottis, which was small and placed very low. Oro-endotracheal intubation was finally done through fiber optic assisted intubation. Under endocarditis prophylaxis, total palatoplasty was done using von Langenbeck technique [Figure 3].[10]

Figure 3

Von Langenbeck technique

She was successfully extubated and transferred to the Pediatric Intensive Care and subsequently to the ward with hand restraints, where she went through an uneventful period after which she was discharged [Figure 4]. One and 2 weeks follow-up showed a stable baby with surgical site healing well [Figure 5].

Figure 4

Immediate postoperative intraoral view

Figure 5

Postoperative evaluation of the patient after 1-week

She would be followed up for mandibular growth and the need for any intervention including vocal and feeding training and long term prognosis.

Discussion

“Pierre Robin” is a readily recognized condition consisting of a hypoplastic or retrognathic mandible and glossoptosis leading to respiratory distress, with or without a cleft palate which when present is usually a wide “U” shaped cleft, though “v” shaped or soft palate clefts have been reported. Though multiple anomalies are present, it is considered as a “sequence” rather than a syndrome as one or all anomalies are possible consequences of the mandibular anomaly. The incidence reported varies between 1:8,500 and 1:14,000 live births.[11] Management is focused mainly with functional issues associated with airway and feeding. A 30% mortality has been mention, but the prognosis is good if the neonate survive the respiratory and feeding issues. Thus, treatment may begin as a surgical emergency in the neonatal period to the symptomatic management of upper respiratory obstruction and feeding problems. All procedures are mainly directed to widening the pharyngeal space or bridging the narrow upper airway.[12] These range from postural positioning to use of appliances to surgical procedures.

Step by step approach to treatment:

Widening the pharyngeal space

Prone positioning of child

Tongue-lip adhesion or glossopexy

Mandibular traction

Mandibular distraction osteogenesis.

Bridging/stenting the obstructed airway

Nasopharyngeal tube

Nasal respiratory support

Tracheostomy.

Correction of glossoptosis and stimulation of mandibular growth

Palatal plate

Preepiglottic baton plate.

Feeding soft nipple with wide opening or squeeze bottle.

Once the neonate thrives through the initial phase of functional problems palatoplasty is attempted at 9–18 months. Mandible usually grows out by 2 years.

Conclusion

Pierre Robin sequence is a congenital anomaly characterized by micrognathia, cleft palate and glossoptosis at varying levels and presentations. It could be seen as an isolated anomaly or be associated with other congenital conditions or one feature of many syndromes.

After genetic evaluation, the authors conclude that the presented case was a PRS in isolation with mild cardiac anomalies and an inferiorly placed hypoplastic epiglottis. Several methods have been described in the management of PRS. The main aim of treatment focused at respiratory distress and nutrition. The authors recommend extreme vigilance during every stage of the management of anomalies presented with PRS. We followed the literature which describes the closure of palatal cleft at 18 months after certain advancement in mandibular growth before beginning of active speech. Further, it gives better patient compliance reduces the need for tracheostomy and there wasn’t any postoperative airway embarrassment or any event with baby compliance.