



Diagnostic Workup


History/Physical












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The history and physical exam, as mentioned, are extremely important in the diagnosis of cholestasis. Some diagnostic clues in the history include:

- Family history of prolonged jaundice - Alagille, cystic fibrosis, alpha-1-antitrypsin, PFIC
- Cholestasis of pregnancy in the mother - PFIC
- Maternal infection - TORCH
- Abnormal fetal ultrasound - choledochal cyst or bowel duplication
- SGA - TORCH
- Hemolytic disease of the newborn - inspissated bile syndrome
- Vomiting - metabolic disorders, bowel obstruction, sepsis
- Nutritional source
- galactose/lactose containing - galactosemia
- fructose/sucrose containing - fructose intolerance
- CNS
- irritability - metabolic disorder, sepsis
- lethargy - hypothyroid, hypopit, sepsis
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Diagnostic clues in the physical exam include:

- Dysmorphic facies - Alagille
- Congenital heart disease - Alagille, embryonic biliary atresia
- Petechiae, rashes - TORCH
- Fundoscopy
- cataracts - TORCH, galactosemia
- embryotoxon - Alagille
- chorioretinitis - TORCH
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