Important elements of the physical examination for evaluating a neonate or young infant with cholestatic liver disease

Finding	Implications
Vital signs	Infants with biliary atresia typically have normal vital signs. Abnormal vital signs are more likely in infants with an underlying infectious or metabolic disease.
General health and vigor	Infants with biliary atresia typically appear well; ill appearance may indicate infection or metabolic disease.
Growth parameters	Infants with biliary atresia typically have normal growth initially but poor weight gain as cholestasis progresses.
Facies and appearance	Infants with Alagille syndrome may have a characteristic facial appearance with a broad nasal bridge, triangular facies, and deep-set eyes. This and other facial malformations or dysmorphism should prompt further evaluation for genetic disorders, such as cleft lip or palate (Hardikar syndrome), or other syndromic features.
Ophthalmologic examination	Cataracts suggest congenital infection or galactosemia, macular cherry red spot suggests Niemann-Pick, posterior embryotoxon suggests Alagille syndrome, and optic nerve hypoplasia suggests septo-optic dysplasia.
Cardiac examination	Congenital heart disease may be present in patients with biliary atresia or Alagille syndrome. Cardiomyopathy may suggest mitochondrial or metabolic disease such as fatty acid oxidation defects or glycogen storage diseases.
Abdominal examination
Ascites	Suggests portal hypertension*.
Abdominal wall veins	Prominent abdominal wall veins suggest portal hypertension*.
Liver size	Hepatomegaly suggests a storage disorder. Hepatomegaly may also be present in biliary atresia or other cholestatic disorders.
Liver consistency	Firm liver texture suggests fibrosis and may be present in biliary atresia.
Spleen	Splenomegaly suggests portal hypertension or storage disorder*.
Skin	Bruising or petechiae suggest coagulopathy or thrombocytopenia. Jaundice confirms hyperbilirubinemia (which may be either conjugated or unconjugated).
Neurologic examination	Hypotonia suggests infection, hypothyroidism, hypopituitarism, peroxisomal disorders, or metabolic disease. Nystagmus suggests mitochondrial disease. Seizures could suggest underlying metabolic/mitochondrial disease but also may be a sequelae of hyperammonemia.
Urine	Dark urine suggests hyperbilirubinemia.
Stool	Acholic (very pale) stools suggest absent bile flow^¶.

* Portal hypertension is unusual at the time of diagnosis in biliary atresia, unless the presentation is late.

¶ Stool color cards provide examples of normal and abnormal infant stool colors. An example is available at Perinatal Services BC.

Graphic 111410 Version 5.0

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Important elements of the physical examination for evaluating a neonate or young infant with cholestatic liver disease