Infantile Cholestasis: Clinical Case and Viva QnA

1. Clinical Case of Cholestasis in Children

A 2-month-old male infant is brought to the pediatric clinic by his parents with concerns of yellowing skin and dark urine for the past week. The infant was born full-term via normal vaginal delivery with no complications during pregnancy or delivery.

History:

• Exclusively breastfed
• No fever or irritability
• Gaining weight adequately
• Stools described as pale and clay-colored for the past 5 days

Physical Examination:

• Weight: 5.2 kg (50th percentile)
• Length: 58 cm (50th percentile)
• Temperature: 37°C
• Jaundice evident on skin and sclera
• Mild hepatomegaly (liver palpable 2 cm below costal margin)
• No splenomegaly

Laboratory Results:

• Total bilirubin: 8.5 mg/dL (Normal: <1.0 mg/dL)
• Direct bilirubin: 5.2 mg/dL (Normal: <0.3 mg/dL)
• ALT: 145 U/L (Normal: <50 U/L)
• AST: 160 U/L (Normal: <40 U/L)
• GGT: 250 U/L (Normal: <204 U/L)
• Alkaline phosphatase: 480 U/L (Normal: <449 U/L)

Further Workup:

• Abdominal ultrasound: No evidence of biliary tract obstruction
• HIDA scan: Non-visualization of the gallbladder or bowel after 24 hours

Diagnosis:

Based on the clinical presentation, laboratory findings, and imaging results, the infant was diagnosed with biliary atresia. The patient was referred for urgent Kasai portoenterostomy.

2. 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

VSD Quiz for Medical Students & Professionals

This interactive quiz component covers essential concepts about Ventricular Septal Defects (VSD) in pediatric cardiology. It includes 25 high-yield viva questions with detailed answers

Question 1 of 30

Disclaimer

The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.