Pierre Robin Sequence

romiguzman (46)in #steemiteducation • 8 years ago

Pierre Robin Syndrome, have you ever heard or had the opportunity to see a case like this? Today I want to share with you a case that was presented in the pediatric service.

Income Summary

It is a male RN, product of 44-year-old mother. V Gesta, pregnancy of 38 weeks + 4 days by Echo, poorly controlled (3 controls) without complications during pregnancy, whose mother does not record HIV, VDRL or maternal typing, with a history of III births, I abortion, obtained by PES who breathed and spontaneously cried at birth PAN: 2.400g TAN: 45cm, apgar 8-9ptos.

Upon physical examination we found Microcephaly, micrognathia, ogival palate, agenesis of both thumbs.

Input Diagnosis:

RNAT / AEG male 41sem + 5d by Capurro.
Dysmorphic syndrome
2.1 Microcephaly
2.2 Micrognathia
2.3 Ogival palate
2.4 Agenesis of thumbs
Investigations: According to the physical examination we can observe that it is characteristic of a syndrome or anomaly that goes by name Pierre Robin.

PierreRobin Syndrome:

This syndrome was described in 1923 by Pierre Robin as a respiratory difficulty associated with glossopthisis and mandibular hypoplasia. Nowadays the syndrome is characterized by retrognathia or micrognathia, glossopthisis and obstruction of the airway, it owes its genesis to a defective development of the first brachial arch that is responsible for the formation of the eyes, ears, jaw and palate, therefore the anomalies develop in those organs.

There is insufficient migration of cells from the neural crest towards the first arch during the 4th week of embryonic development. It is a condition present at birth, in which the baby has a lower jaw lower than normal (micrognathia), the tongue located more behind than normal (glossoptosis), and an opening in the roof of the mouth (cleft palate) . This combination of characteristics can cause problems to breathe or eat in babies.

Pierre Robin's sequence can occur on its own (isolated) or be associated with a variety of other signs and symptoms, when they are part of a syndrome. About 20 to 40 percent of cases are isolated. The exact causes of Pierre Robin syndrome are unknown. In some of the isolated cases there are changes (mutations) in DNA (deoxyribonucleic acid) located near the SOX9 gene but not in all cases. Treatment depends on the specific needs of each patient, but may include surgery to help with breathing and feeding.

Majeno:

We have a conservative majero where children with severe micrognathia may have significant obstruction at birth, requiring an artificial airway (nasopharyngeal tube, laryngeal mask, endotracheal tube, or other recently proposed devices.) Most neonates will have problems with feeding. Palatal fissure prevents adequate negative pressure for suction.The milk or formula has to be delivered through a long dummy that has a large cut in the exit hole to make the delivery effortless.It has devised other devices to improve the feeding technique The nurse plays an extremely important role in the teaching of the feeding technique and a surgical one: The treatment is oriented according to the severity of the airway compromise followed by the degree of difficulty in feeding. Severe micrognathia may present severe respiratory distress or lack of and weight increase Surgical intervention is necessary in these cases. Various procedures have been described, but tracheostomy is the most commonly used technique. Other surgical procedures, such as subperiosteal release of the floor of the mouth, and various types of glossopexy, such as the Routledge technique or other forms of tongue-lip adhesions. Glossopexy must be released before an advanced dentition develops (9-12 months of age)