Neonatal Cholestasis: Clinical Case and Viva QnA

Patient Presentation

A 6-week-old female infant presents with progressive jaundice and pale stools. Mother reports dark urine staining the diapers. Birth weight was 3.2 kg, and current weight is 4.1 kg. The infant was born at term via normal vaginal delivery with no immediate postnatal complications.

Key Presenting Features:

• Progressive jaundice extending beyond 2 weeks of life
• Acholic stools (pale/clay-colored)
• Dark urine
• Poor weight gain (less than expected for age)

Click to read Neonatal Cholestasis

Perinatal and Past Medical History

• G2P2 mother with unremarkable pregnancy
• No maternal infections or medications during pregnancy
• Normal antenatal ultrasounds
• Exclusively breastfed
• No history of blood transfusions
• Newborn screening pending

Physical Examination

Vital Signs:

• Temperature: 37.0°C
• Heart Rate: 145 beats/min
• Respiratory Rate: 40 breaths/min
• Weight: 4.1 kg (10th percentile)
• Length: 55 cm (25th percentile)
• Head Circumference: 38 cm (50th percentile)

Physical Findings:

• General: Alert, moderately jaundiced infant
• Skin: Deep yellow-green jaundice, no rashes
• HEENT: No dysmorphic features, normal anterior fontanelle
• Cardiovascular: Normal heart sounds, no murmurs
• Respiratory: Clear breath sounds bilaterally
• Abdomen: Soft, liver edge palpable 3 cm below costal margin, spleen tip palpable
• Neurological: Normal tone and reflexes

Laboratory Findings

Initial Labs:

• Total Bilirubin: 12.5 mg/dL
• Direct (Conjugated) Bilirubin: 8.2 mg/dL (>20% of total)
• ALT: 185 U/L (elevated)
• AST: 210 U/L (elevated)
• GGT: 450 U/L (elevated)
• Alkaline Phosphatase: 625 U/L (elevated)
• Albumin: 3.5 g/dL
• PT: 14 seconds (slightly prolonged)
• INR: 1.2

Additional Studies:

• CBC: Normal for age
• Thyroid function tests: Normal
• Alpha-1 antitrypsin level: Pending
• Galactosemia screen: Negative
• TORCH titers: Pending

Imaging Studies

• Abdominal Ultrasound:
  • No visualization of gallbladder
  • Triangular cord sign present
  • Normal liver echogenicity
  • No choledochal cyst
• HIDA Scan: Non-visualization of the gallbladder or bile ducts

Assessment

Red Flags for Biliary Atresia:

• Progressive conjugated hyperbilirubinemia
• Acholic stools
• Hepatomegaly
• Ultrasound findings (triangular cord sign)
• Non-visualization on HIDA scan

Working Diagnosis:

Biliary Atresia (BA) - extrahepatic type

Key Diagnostic Criteria:

• Age-appropriate presentation (3-6 weeks)
• Conjugated hyperbilirubinemia
• Classical imaging findings
• Consistent clinical features

Management Plan

Immediate Actions:

1. Urgent referral to pediatric surgical center
2. Schedule for intraoperative cholangiogram and possible Kasai procedure
3. Start fat-soluble vitamin supplementation (A, D, E, K)
4. Nutritional support with medium-chain triglyceride (MCT) formula supplementation

Medical Management:

• Ursodeoxycholic acid 20 mg/kg/day
• Monitor coagulation status
• Regular weight checks
• Close monitoring of liver function

Time-Critical Intervention:

Kasai portoenterostomy ideally performed before 60 days of life for optimal outcomes

Prognosis and Follow-up

Prognostic Factors:

• Age at surgery (better outcomes if performed <60 days)
• Experience of surgical center
• Degree of fibrosis at time of surgery

Long-term Follow-up:

• Regular monitoring of liver function
• Growth and development tracking
• Nutritional status assessment
• Portal hypertension surveillance
• Consider liver transplant evaluation if poor response to Kasai

Learning Points

Key Clinical Pearls:

1. Any infant with jaundice beyond 2 weeks requires conjugated bilirubin measurement
2. Pale stools and dark urine are crucial diagnostic clues
3. Time is critical - early diagnosis and intervention improve outcomes
4. BA is the most common surgical cause of neonatal cholestasis
5. Regular post-operative monitoring is essential for early detection of complications

Differential Diagnosis:

• Alagille syndrome
• Progressive familial intrahepatic cholestasis
• Alpha-1 antitrypsin deficiency
• Choledochal cyst
• CMV hepatitis
• Metabolic liver diseases

Clinical Presentations of Cholestasis in Children

1. Neonatal Cholestasis (Biliary Atresia)

   • Jaundice persisting beyond 2 weeks of age
   • Dark urine and pale, acholic stools
   • Hepatomegaly
   • Failure to thrive
   • Pruritus (in older infants)

2. Progressive Familial Intrahepatic Cholestasis (PFIC)

   • Chronic cholestasis from early infancy
   • Severe pruritus
   • Growth retardation
   • Jaundice
   • Hepatosplenomegaly

3. Alagille Syndrome

   • Chronic cholestasis
   • Characteristic facies (broad forehead, deep-set eyes, pointed chin)
   • Butterfly vertebrae
   • Peripheral pulmonary stenosis
   • Posterior embryotoxon in the eye

4. Alpha-1 Antitrypsin Deficiency

   • Neonatal cholestasis
   • Prolonged jaundice
   • Hepatomegaly
   • Elevated liver enzymes
   • May present later in childhood with chronic liver disease

5. Choledochal Cyst

   • Intermittent abdominal pain
   • Jaundice
   • Palpable abdominal mass
   • Fever (if complicated by cholangitis)
   • May present with pancreatitis

6. Cystic Fibrosis-associated Liver Disease

   • Neonatal cholestasis
   • Recurrent respiratory infections
   • Failure to thrive
   • Steatorrhea
   • Progressive cirrhosis in some cases

7. Neonatal Hepatitis

   • Jaundice
   • Hepatomegaly
   • Poor feeding
   • Lethargy
   • May have associated viral symptoms (fever, rash)

8. Parenteral Nutrition-Associated Cholestasis

   • Develops in infants on long-term parenteral nutrition
   • Progressive jaundice
   • Hepatomegaly
   • Elevated liver enzymes and bilirubin
   • May progress to liver fibrosis if prolonged

Knowledge Check: Question and Answers

This interactive quiz component covers essential viva questions and answers. It includes 30 high-yield viva questions with detailed answers.

Question 1 of 30

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