Will is a 9-week-old male infant who presents with worsening “yellow” skin and eyes. His mother states that the yellowing of his eyes has fluctuated since birth. She also reports that he has had some yellow-colored stools and golden yellow urine. She denies any signs of lethargy and states that he continues to eat well, taking five ounces of formula every 4 hours. He was born full term via a vaginal delivery and was discharged home on Day of Life 2. Newborn labs revealed a total bilirubin of 11.7 mg/dl and a direct bilirubin of 2.49 mg/dl.
Examination reveals an alert, well-nourished infant in no acute distress. His vital signs are stable. They are as follows: temperature, 37.4°C; blood pressure, 152/59 mmHg; heart rate, 128 beats per minute; and respiratory rate, 30 breaths per minute. He is normocephalic, with a flat anterior fontanelle and no cervical lymphadenopathy. His cardiac rate and rhythm are regular. His extremities are warm and well perfused, with a capillary refill of less than 3 seconds. His respirations are nonlabored, and breath sounds are clear. His abdomen is soft, nontender, and nondistended, and no hepatosplenomegaly is appreciated. Generalized jaundice and scleral icterus are noted. Examination of his stool reveals acholic stools (Figure 1).
What is your diagnosis?
- Alagille syndrome
- Choledochal cyst
- Neonatal hepatitis
- Biliary atresia
The Diagnosis is:
d. Biliary atresia
On the basis of the neonatal history of hyperbilirubinemia and current jaundice with scleral icterus, laboratory studies, an abdominal ultrasound, and subsequent hepatobiliary iminodiacetic acid (HIDA) scan were obtained.
Pertinent laboratory studies:
- Total bilirubin: 12.7 mg/dl (0.2–1.0)
- Direct bilirubin: 6.4 mg/dl (0.1–.05)
- Aspartate aminotransferase: 591 units/L (26–63)
- Alanine aminotransferase: 381 units/L (13–39)
- Gamma-glutamyltransferase: 2154 units/L (17–140)
- Alkaline phosphatase: 774 units/L (60–360)
- 1) Heterogenous liver echogenicity with no focal hepatic lesions
- 2) Small contracted gallbladder and a small common bile duct measuring 1 mm
- 3) Trace perihepatic ascites
- 1) No hepatobiliary excretion of the HIDA agent during the course of the examination. On the basis of the patient's hyperbilirubinemia, acholic stools, and HIDA scan findings, it was determined that the diagnosis of biliary atresia was likely.
RESOLUTION OF THE CASE AND PATIENT OUTCOME
On the basis of the results of the diagnostic studies, the decision was made to proceed to the operating room on Hospital Day 7 for an exploratory laparotomy with extrahepatic biliary exploration and an intraoperative cholangiogram (Figure 2). Contrast injection under fluoroscopy showed a completely atretic common bile duct, white bile in the gallbladder, and no passage of contrast into the liver or distally into the small bowel. Because of these findings, a Kasai Roux-en-Y hepatoportoenterostomy and a liver core needle biopsy were subsequently performed.
Postoperatively, Will was initially admitted to the pediatric intensive care unit for close observation and pain control. He remained on intravenous fluids, had a nasogastric tube and Jackson–Pratt drain in place, and was on prophylactic antibiotics. His total bilirubin on Postoperative Day (POD) 1 decreased from 12.6 to 9.6 mg/dl. He was transferred to the surgical floor on POD 2. His nasogastric tube was removed on POD 4, and low-volume oral feedings were initiated. Jackson–Pratt drainage decreased, and the drain was removed on POD 5. He tolerated his oral feeding well and advanced to ad lib feeds. He did accumulate some ascites, which drained out of his drain site. The drainage resolved with reinforcement of the drain site, and the ascites gradually decreased. After the Kasai procedure, he began to pass pigmented stools (Figure 3). His bilirubin continued to trend down to 5.5 mg/dl with a direct bilirubin of 1.1 mg/dl. He was discharged home on POD 11.
He was readmitted 2 weeks later with decreased oral intake and increased abdominal distention, which was found to be because of ascites. A nasogastric feeding tube was inserted for supplemental feeds. He was ultimately determined to be a candidate for a liver transplant because of persistent ascites and poor oral intake and underwent a successful liver transplant at 8 months old. He is now 10 months old, home, developing well, and taking full feeds by mouth without the need for supplemental feeds. He is an active busy baby who will require close follow-up, but a good long-term outcome is anticipated.
INFORMATION ABOUT THE DIAGNOSIS
Biliary atresia occurs in five to six per 100,000 live births in the United States (Moreira, Cabral, Cowles, & Lobritto, 2012). Although biliary atresia is rare, it is the leading condition requiring liver transplantation in neonates. This is because of inflammatory damage to the intrahepatic and extrahepatic bile ducts, which results in hardening, narrowing, or even complete destruction of the biliary tree (Chardot, 2006). Cholestasis subsequently occurs because bile is unable to leave the liver. As a result, bilirubin begins to accumulate in the blood and cause the cardinal symptoms of biliary atresia: jaundice, acholic stools, dark urine, and hepatosplenomegaly. If left untreated, biliary atresia leads to cirrhosis and even death within the first 2 years of life. Thus, it is essential to further evaluate jaundice that persists beyond the first 2 weeks of life (Feldman & Mack, 2015). This is accomplished through evaluation of laboratory results, such as fractionated bilirubin, and an abdominal ultrasound. The most significant diagnostic findings include a conjugated bilirubin greater than 2.5 mg/dl, a gamma-glutamyltransferase greater than 150 units/L, a HIDA scan (with phenobarbital) showing no drainage after 24 hours, and an absent gallbladder on ultrasound (Jancelewicz et al., 2015).
The etiology of biliary atresia remains largely unknown but is typically classified into one of two forms. The first form is embryonic, or syndromic, and is associated with other congenital anomalies such as cardiovascular defects, asplenia/polysplenia, and intestinal malrotation (Moreira et al., 2012). This form accounts for 10%–20% of cases. The second form is perinatal/postnatal, or nonsyndromic, and is not associated with other congenital anomalies. This form accounts for 80%–90% of cases (Moreira et al., 2012). The Japanese Association of Pediatric Surgeons' classification system is the most commonly used and bases the type on anatomical location and degree of biliary obstruction (Lee & Kim, 2017). Type I is distal and only affects the common bile duct. The gallbladder and hepatic duct remain patent. Type II is further divided into subgroups: Type IIa and Type IIb. In Type IIa, the hepatic duct is closed, but the gallbladder and common bile duct are open. In Type IIb, the gallbladder, common bile duct, and hepatic duct are all destroyed. Type III is the most common form and is referred to as “complete” because the intrahepatic bile ducts and extrahepatic biliary tree are all destroyed (Lee & Kim, 2017).
Once biliary atresia is confirmed, surgical intervention should be performed as soon as possible to limit damage to the liver. The surgical procedure utilized is the Kasai operation or a hepatoportoenterostomy. This procedure aims to restore bile flow. The Kasai procedure is most beneficial if performed within the first 30–45 days of life; however, the average age of diagnosis of biliary atresia is not until 61 days of life (Feldman & Mack, 2015). Despite undergoing the Kasai procedure, approximately 50% of infants still require liver transplantation because of progressive fibrosis and liver failure (Mezina & Karpen, 2015). Nevertheless, 90% of patients with biliary atresia survive, and most have a rather normal quality of life (Chardot, 2006).
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