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In a newborn presenting with jaundice and normocolic stools, which should be ruled out? a) gauche b) alpha antitrypsin deficiency c) galactosemia d) cytomegalovirus e) glycogen type 1 storage disease

Question

In a newborn presenting with jaundice and normocolic stools, which should be ruled out?

a) gauche b) alpha antitrypsin deficiency c) galactosemia d) cytomegalovirus e) glycogen type 1 storage disease

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Solution

In a newborn presenting with jaundice and normocolic stools, the condition that should be ruled out is b) alpha antitrypsin deficiency.

Alpha-1 antitrypsin deficiency is a genetic disorder that can cause liver disease in children and lung disease in adults. In newborns, it can present with symptoms such as jaundice and normocolic stools.

The other conditions listed can also cause jaundice, but they are typically associated with other symptoms as well. For example, Gaucher's disease often causes an enlarged liver and spleen, while galactosemia can cause vomiting and poor weight gain. Cytomegalovirus can cause a wide range of symptoms, including fever, sore throat, fatigue, and swollen glands. Glycogen storage disease type I can cause low blood sugar, slow growth, and a swollen belly.

Therefore, in a newborn presenting with jaundice and normocolic stools, alpha-1 antitrypsin deficiency should be ruled out first.

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