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Old 08-05-2013
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Idea! Peds question #9

The mother of a 2 week old infant reports that since birth, her infant has been odd, the kid needs to be awaken to be fed because otherwise, it will just remain asleep. She is also concerned because her child didnt stooled until 72 hours after birth. On your examination you notice an infant with normal height and weight, she is slightly jaundiced. Heart rate is 87 bpm and RR 22 per minute. You note a large anterior fontanelle and a distended abdomen with a bulged in the middle. This clinical presentation is likely a result of which of the following?
A. Congenital Megacolon
B. Sepsis.
C. Biliary Atresia.
D. Hypothyroidism
E. Breastfeeding jaundice.
F. Normal Development.

Mention why the child presents like this and the role of its development or lack thereof in the CNS as well.
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Old 08-05-2013
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I would go for D. Thyroxine is needed for normal development of the brain. Prolonged physiological jaundice is also a feature of hypothyroidism. The low heart rate, large ant fontanelle, constipation and the possible umbilical hernia futher support this diagnosis.

Urgent supplementation is required as congenital hypothyroidism is one of the few cases in which early treatment can prevent mental retardation.
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I would go for D. Thyroxine is needed for normal development of the brain. Prolonged physiological jaundice is also a feature of hypothyroidism. The low heart rate, large ant fontanelle, constipation and the possible umbilical hernia futher support this diagnosis.

Urgent supplementation is required as congenital hypothyroidism is one of the few cases in which early treatment can prevent mental retardation.
Thanks for your answer! however I have one comment, at the moment jaundice is prolonged it ceases to be physiologic right?(probably a typo) thanks for your input!
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Old 08-05-2013
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I agree Hypothyroidism.
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Thanks for your answer! however I have one comment, at the moment jaundice is prolonged it ceases to be physiologic right?(probably a typo) thanks for your input!

My mistake. Thanks. Your questions are great. Nice to see the Step 3 forum active!
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Old 08-05-2013
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Originally Posted by XpaezX View Post
The mother of a 2 week old infant reports that since birth, her infant has been odd, the kid needs to be awaken to be fed because otherwise, it will just remain asleep. She is also concerned because her child didnt stooled until 72 hours after birth. On your examination you notice an infant with normal height and weight, she is slightly jaundiced. Heart rate is 87 bpm and RR 22 per minute. You note a large anterior fontanelle and a distended abdomen with a bulged in the middle. This clinical presentation is likely a result of which of the following?
A. Congenital Megacolon
B. Sepsis.
C. Biliary Atresia.
D. Hypothyroidism
E. Breastfeeding jaundice.
F. Normal Development.

Mention why the child presents like this and the role of its development or lack thereof in the CNS as well.
This sounds like hypothyroidism - i pick D - Causes Cretinism .
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Old 08-06-2013
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Correct answer is D. Congenital hypothyroidism
All of the symptoms point exactly to this diagnosis, this patient's bulge is most likely an umbilical hernia, which is characteristic of this disease.
Thyroid hormone is necessary for CNS development, prompt therapy needs to be instituted ASAP because failing to do so may leave a crippled mentally retarded child that will become a burden for social programs.
Biliary atresia is also likely because is one of the Most common causes of late onset direct hyperbilirubinemia, however it doesnt have the rest of the symptoms.
Eventho one must always think about CF and Congenital megacolon in kids that dont stool after the first 24 hours, other common diagnoses including hypothyroidism must also be taken into account.

Good job everybody !
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