Genetic oddities in Pediatrics

in #science6 years ago

Patau syndrome

Hello Friends of Steemit, today I bring back to you a case occurred in one of my guards for the pediatric service a few days ago. A patient arrives at the obstetrics service with a bleeding and loss of fluids through her genitals, referring to a deep pain in the pelvis, a physical examination and a thorough questioning, making known that she has a pregnancy of 35 weeks of of gestation, which is never controlled or performed any imaging study, which led the doctors to determine that pregnancy is very high risk and the fetus should be brought into the world by means of a segmental caesarean section.
While the patient is waiting for his or her turn to the operating room, he or she is given a gestational echo, to determine the status of the fetus, to surprise the obstetrician finds an abnormal image of the fetus, which indicates that the fetus is not fit for life outside of the maternal uterus, because of this accelerates the process of entry to the operating room of the patient and is called a Neonatologo expert in malformations to be aware of the case, that proceed to receive the fetus and give the first care.
When receiving the fetus Neonatologo instantly diagnoses it with Patau syndrome, which is a very strange congenital anomaly, occurs because one of chromosome 13 is duplicated, this anomaly is only seen in 1 of 13,000 births, this duplication is inherited by one of the parents.

The complications of a fetus with Patau syndrome are as follows:

  • Communication between the cardiac cavities.
  • Mental disability.
  • Multiple fingers.
  • Severe respiratory distress.
  • Facial malformations.
  • osseous configuration of the irregular skull.
  • Muscular hypotonia (lack of muscle strength or lack of tone).
  • Omphalocele.

Knowing this it can be determined that the prognosis of life of this patient is very short, although it is done the placement of a tube for artificial respiration and is expected the evolution of the patient.

After about 5 hours after the first care, the patient died due to the number of abnormalities present in his respiratory and cardiac system. The mother was aware at all times and she had an optimal post-op recovery.

These malformations can be diagnosed in time by means of a genetic echo and then proceed to interrupt the pregnancy, because it can bring maternal risk and 100% of the cases are unfit for life outside the maternal womb.

This case was presented the Central Hospital of Maracay State Aragua Venezuela, is purely informative, all images were taken with my Samsung Galaxy S3, I hope you like and give me your support to continue bringing medical content.
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