Table of Contents  
CASE REPORT
Year : 2012  |  Volume : 5  |  Issue : 2  |  Page : 163-164  

Non syndromic Pierre Robin sequence: On the lookout for breathing difficulty


Department of Pediatrics, Dr. D. Y. Patil Medical College and Hospital Pimpri, Pune, India

Date of Web Publication10-Nov-2012

Correspondence Address:
Meryl S Parekkat
Dr. D. Y. Patil Medical College and Hospital, Pimpri, Pune
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-2870.103351

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  Abstract 

A full-term vigorous baby male, was born at term. His micrognathia and cleft palate were immediately apparent but there was no clinical evidence of upper airway obstruction. Feeding was commenced with no initial problems. Prior to discharge on day 7 he was reviewed and found to be well and without upper airway obstruction. On day 42 of life he arrived with failure to thrive.

Keywords: Palate, failure to thrive, heterogeneous, micrognathia, polysomnography, respiratory difficulty, sequence, Stickler syndrome


How to cite this article:
Parekkat MS, Salunkhe S, Agarkhedkar S, Pande V. Non syndromic Pierre Robin sequence: On the lookout for breathing difficulty. Med J DY Patil Univ 2012;5:163-4

How to cite this URL:
Parekkat MS, Salunkhe S, Agarkhedkar S, Pande V. Non syndromic Pierre Robin sequence: On the lookout for breathing difficulty. Med J DY Patil Univ [serial online] 2012 [cited 2020 Apr 2];5:163-4. Available from: http://www.mjdrdypu.org/text.asp?2012/5/2/163/103351


  Introduction Top


Pierre Robin sequence (PRS) consists of multiple defects that occur as a result of a single presumed structural anomaly. When a child is born with PRS, a thorough genetic evaluation should be performed during their first year of life. Infants with PRS are classically described as developing airway obstruction soon after birth. However, this view was challenged with cases presenting with upper airway obstruction between 2 and 21 days of age. Late onset of upper airway obstruction, particularly after initial hospital discharge, has potentially serious consequences. This can be avoided if polysomnography is included in the battery of investigations.


  Case Report Top


A full-term vigorous baby male, born in the month of December 2010, through normal vaginal delivery, weighing 2.5kg. He had a flat forehead, low set ears, high arched palate, micrognathia [Figure 1], bilateral dysplastic phalanges and congenital vertical talus with rocker bottom feet [Figure 2]. Ultrasonography cranium and abdomen, chest and spine X-rays did not show any abnormality. Karyotyping was normal.
Figure 1: Micrognathia

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Figure 2: Rocker bottom feet

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On day 38 he was reviewed again and had poor weight gain compared to earlier visits and his parents were concerned by his intermittent noisy breathing. Initially upper airway obstruction was not clinically obvious and he was managed with nasogastric feeds. As he did not gain weight, he was in need of respiratory evaluation and a polysomnogram, which unfortunately was beyond their financial capacity. The baby continued to have noisy breathing and on every follow up he fell short of the required growth. On each visit they were counseled for polysomnogram but due to their unchanging financial issues, they refused to cooperate. The baby was then brought for 2 monthly visits after which the child was lost to follow-up.


  Discussion Top


This heterogeneous birth defect has a prevalence of approximately 1 per 8500 live births. The male-to-female ratio is 1:1. [1] PRS may be caused by genetic anomalies at chromosomes 2, 11, or 17. Non-syndromic PRS may be etiologically related to dysregulation of both SOX9 and KCNJ2. Autosomal recessive inheritance is possible. [2]

Children with severe micrognathia usually have significant respiratory obstruction at birth, requiring a nasopharyngeal airway or intubation. The milk or formula has to be delivered through a bottle with a nipple that has a large hole cut into the top to make the delivery effortless. Stickler Syndrome is the most likely genetic syndrome associated with PRS, a vision and hearing test should be ordered soon after birth. [3]

Infants with pronounced micrognathia may experience severe respiratory distress or failure to thrive. Treatment is prioritized according to the severity of airway compromise followed by the extent of feeding difficulties. Although many different surgical procedures have been described, tracheostomy remains the most widely used technique. Any glossopexy should be released before significant dentition develops (age 9-12 mo). [4]

Late presentation of breathing difficulty

While most reported series of infants with PRS have not specifically stated the age at presentation of airway obstruction, the classical view has been that, if present, airway obstruction will be apparent from birth. This view is supported by the series of Benjamin and Walker. [5] The largest series of patients with late presentation of upper airway obstruction is that of Ogborn and Pemberton, who reported five infants presenting between the third 3rd and twenty first 21 st postnatal day. [6] This series of patients illustrates the need for close prospective monitoring of all infants born with PRS. Clinical grounds alone are clearly not sufficient to predict whether an infant will subsequently present with upper airway obstruction, suggesting that there is a role for polysomnography as a diagnostic tool in PRS. The presence of failure to thrive in infants with PRS should be assumed to be caused by airway obstruction unless proven otherwise. [7]

 
  References Top

1.Gruen PM, Carranza A, Karmody CS, Bachor E. Anomalies of the ear in the Pierre Robin triad. Ann Otol Rhinol Laryngol. 2005;114:605-13.  Back to cited text no. 1
    
2.Robin P. Glossoptosis due to atresia and hypotrophy of the mandible. Am J Dis Child 1934;48;541-7.  Back to cited text no. 2
    
3.Lidsky ME, Lander TA, Sidman JD. Resolving feeding difficulties with early airway intervention in Pierre Robin Sequence. Laryngoscope. 2008;118:120-3.  Back to cited text no. 3
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4.Bath AP, Bull PD. Management of upper airway obstruction in Pierre Robin Sequence. J Laryngol Otol 1997;111:1155-7.  Back to cited text no. 4
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5.Benjamin B, Walker P. Management of airway obstruction in the Pierre Robin Sequence. Int J Pediatr Otorhinolaryngol 1991;22:29-37.  Back to cited text no. 5
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6.Ogborn MR, Pemberton PJ. Late development of airway obstruction in the Robin anomolad (Pierre Robin Syndrome) in the newborn. Aust Paediatr J 1985;21:199-200.  Back to cited text no. 6
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7.Dennison WM. The Pierre Robin Syndrome. Pediatrics 1965;36:336-41.  Back to cited text no. 7
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    Figures

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