A 2-week-old boy is brought to the office due to persistent yellowing of the skin and eyes. In the first few days of life, his parents were told the patient had jaundice that would likely improve over time. However, they feel that his color has not changed significantly. The patient was born at term, and his parents declined the hepatitis B vaccine because the mother's serologic studies confirm she is immune. The boy is exclusively breastfed and voids frequently. He has 3 or 4 bowel movements daily, and the stools are light yellow. The patient's only medication is vitamin D. Weight today is 3.5 kg (7.7 lb), increased from 3.4 kg (7.5 lb) at birth. Examination reveals scleral icterus and jaundice of the face and chest. The abdomen is soft with normal bowel sounds. The remainder of the examination is normal. Total bilirubin is 10.0 mg/dL and direct bilirubin is 7.4 mg/dL. Aspartate aminotransferase and alanine aminotransferase are within normal limits. Maternal blood type is O, Rh-D positive. Which of the following is the best next step in management of this patient?

Question

A 2-week-old boy is brought to the office due to persistent yellowing of the skin and eyes.  In the first few days of life, his parents were told the patient had jaundice that would likely improve over time.  However, they feel that his color has not changed significantly.  The patient was born at term, and his parents declined the hepatitis B vaccine because the mother's serologic studies confirm she is immune.  The boy is exclusively breastfed and voids frequently.  He has 3 or 4 bowel movements daily, and the stools are light yellow.  The patient's only medication is vitamin D.  Weight today is 3.5 kg (7.7 lb), increased from 3.4 kg (7.5 lb) at birth.  Examination reveals scleral icterus and jaundice of the face and chest.  The abdomen is soft with normal bowel sounds.  The remainder of the examination is normal.  Total bilirubin is 10.0 mg/dL and direct bilirubin is 7.4 mg/dL.  Aspartate aminotransferase and alanine aminotransferase are within normal limits.  Maternal blood type is O, Rh-D positive.  Which of the following is the best next step in management of this patient?

Quizplus · Accepted Answer

11ec25c8_d673_9a6b_bc81_cbc93921c0bc_MD0003_00 This neonate has jaundice, light-colored stools, and direct hyperbilirubinemia, findings concerning for biliary atresia (BA), a rare but potentially fatal disease. BA is characterized by progressive fibrosis and obliteration of the extrahepatic bile ducts. Bilirubin (bile pigment) continues to be conjugated by the liver but cannot be excreted by the biliary system, leading to cholestasis. extrahepatic bile ducts Symptoms typically manifest at age 2-8 weeks with jaundice and scleral icterus. Acholic stools (eg, light yellow, clay-colored, white) often occur because bile cannot reach the intestines, and urine may be dark yellow due to bilirubinuria. Laboratory evaluation reveals elevated direct bilirubin, often with normal or mildly elevated aspartate aminotransferase and alanine aminotransferase. The next step in management of suspected BA is ultrasound of the right upper quadrant to assess biliary anatomy. Characteristic ultrasound findings include an abnormal/absent gallbladder, absent common bile duct, and triangular cord sign (fibrous remnants seen above the porta hepatis). Liver biopsy is used to help distinguish BA from other cholestatic conditions (eg, Alagille syndrome) and typically reveals intrahepatic duct proliferation, portal tract edema, and fibrosis. Biliary obstruction on intraoperative cholangiography is the gold standard for diagnosis; if it is present, immediate hepatoportoenterostomy (Kasai procedure) is performed to reestablish bile flow to the small intestine. (Choice B) Hepatitis B vaccine and immunoglobulin are administered at birth to infants born to mothers who are hepatitis B surface antigen (HBsAg) positive; serial monitoring of HBsAg is then indicated. This patient's mother is immune and therefore HBsAg negative; despite not receiving the hepatitis B vaccine at birth, the patient is at low risk for infection and monitoring is not indicated. (Choice C) Continued breastfeeding is recommended for breast milk jaundice, which peaks at age 2 weeks and is characterized by increased enterohepatic circulation. This process is thought to be caused by elevated beta-glucuronidase in breast milk, leading to further deconjugation of bilirubin and therefore indirect (rather than direct) hyperbilirubinemia. (Choice D) Crigler-Najjar syndrome is an autosomal recessive disorder of bilirubin metabolism in which conjugation of bilirubin is decreased. Indirect hyperbilirubinemia would be expected. (Choice E) Supplementation with cow's milk-based formula may be required for some cases of breastfeeding failure jaundice in which breastfeeding newborns have inadequate intake and excessive weight loss, causing indirect hyperbilirubinemia in the first week of life. Educational objective: Biliary atresia is characterized by progressive fibrosis and obliteration of extrahepatic bile ducts. It typically presents at age 2-8 weeks with jaundice, acholic stools, and direct hyperbilirubinemia. Diagnostic evaluation of biliary anatomy begins with ultrasound of the right upper quadrant. References: Biliary atresia: clinical lessons learned. (http://www.ncbi.nlm.nih.gov/pubmed/25658057)

A 2-Week-Old Boy Is Brought to the Office Due to Persistent