Friday, February 27, 2015

Study group discussion: CHARGE syndrome and related case

A newborn turns cyanotic upon breast feeding and crying turns him pink again? What's happening here? Also the mechanism?

Tracheo esophageal fistula?
That explains the cyanosis part only but in that crying won't turn him pink again.

Laryngomalacia?
In laryngomalacia, the cartilage collapses inward upon inhalation.
But that's not the answer.

Nasal polyps?
It is unlikely to have been formed in a new born infant.

Nasal or Choanal atresia.
He is breathing through mouth. Breast feeding obstructs his only breathing route. So he turns cyanotic. Crying allows him to turn breathe through the mouth, turning him pink again.

Correct! Full marks!

Thank you :P

What's CHARGE syndrome?

C coloboma
H heart defects
A atresia choanal
R retardation (mental and growth) G genital defect
E ear defect

Excellent!

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