Neonatal and Pediatric Liver and Metabolic Diseases: Clinical Casebook

Preface
Contents
1: Neonatal and Pediatric Liver Diseases
	1.1	 Neonatal and Pediatric Liver Diseases Are Unique
	1.2	 Neonatal and Pediatric Liver Diseases Are Different from Adult Liver Diseases for the Following Main Reasons
	1.3	 Liver Function Tests
	1.4	 Investigating a Case of Neonatal Jaundice
		1.4.1	 Suggested Protocol
	1.5	 Treatment in the Case of Conjugated Hyperbilirubinemia till a Definitive Diagnosis Is Made
	1.6	 Basic Understanding of Inborn Errors of Metabolism and Metabolic Disorders
		1.6.1	 Introduction
	1.7	 Next Generation Sequencing in Neonatal, Infantile and Pediatric Liver, and Metabolic Diseases
	1.8	 Conclusion
2: Case 1: A 20-Month-Old Child Who Returned to the Clinic After a Lapse of 12 Months and a 20-Month-Old Child with Recurrent Convulsions
	2.1	 What Are Your Working Diagnoses? What Would You Do Next in Each of These Two Cases?
		2.1.1	 Analyzing a Case of Hypoglycemia
	2.2	 Understand Various Types of GSDs Affecting the Liver in a Significant Way
		2.2.1	 GSD Type-I
		2.2.2	 GSD Type-III
		2.2.3	 GSD Type-IV
3: Case 2: A 9-Year-Old Boy Presenting with Hepatitis, Epistaxis, and Bleeding from Gums
	3.1	 Would a Liver Biopsy Help?
4: Case 3: Lightning Strikes at One Place Thrice!
	4.1	 What Is Your Differential Diagnosis? What Additional Tests Would You Do?
	4.2	 Clinical Features
5: Case 4: A Worried Couple with a Child Having Jaundice
	5.1	 Do You Agree with Our Suspicion? What Other Investigations Would You Do?
		5.1.1	 Crigler–Najjar Syndrome (CN Syndrome)
		5.1.2	 Phototherapy
6: Case 5: A 2-Year-Old Child Who Had Recurrent Hematemesis and Bleeding per Rectum
	6.1	 Why Do You Think She Has Bled?
7: Case 6: A Child Who Had Lost Appetite and Interest
	7.1	 What Is Your Working Diagnosis? What Further Tests You Would Do Now?
8: Case 7: A Year-Old Child with Chronic Diarrhea and Severe Failure to Thrive
9: Case 8: A 3-Year-Old Male with Recurrent Diarrhea and Chest Infection That Made His Mother Go Back to Her Parents
10: Case 9: A 11-Month-Old Pair of Twins Who Made Everyone in the Family Cry for 5 Months
	10.1	 What Should We Do Now?
	10.2	 What Next?
	10.3	 Progressive Familial Intrahepatic Cholestasis
11: Case 10: A Child with Recurrent Diarrhea That Made the Family Measurable
12: Case 11: A 3-Month-Old Child with Recurrent Fever, Diarrhea, Failure to Thrive, and Electrolyte Disturbances
	12.1	 How Will You Explain These Abnormalities in His Blood Gas Picture?
		12.1.1	 What Is Your Diagnosis?
13: Case 12: A 13-Year-Old Girl with Chronic Abdominal Pain and Vomiting
	13.1	 What Is Your Diagnosis, What Sort of Clinical Course You Predict, and What Is Your Expected Outcome for This Patient?
14: Case 13: A 6-Month-Old Child with Neonatal Cholestasis and Generalized Edema
	14.1	 What Is Your Line of Thinking? What Is Your Diagnosis?
15: Case 14: A 6-Week-Old Child Who Had Progressive Jaundice and Creamy White Stools
	15.1	 What Is Your Working Diagnosis for Convulsions?
	15.2	 What Further Tests Would You Like to Do?
	15.3	 Extra Hepatic Biliary Atresia
16: Case 15: Milk by Any Other Name Could Also Be Milk
	16.1	 How Will You Proceed Now?
	16.2	 What Could This Be?
17: Case 16: An 8-Year-Old Son of a Lady Executive Who Was a Keen “Net” Searcher
	17.1	 What Should I Do Now?
18: Case 17: Neo Rich Parents Who Wanted the Best for Their Child!
	18.1	 What Is Your Thinking?
19: Case 18: A Case of “Crigler–Najjar Syndrome”
	19.1	 What Do You Think Is Happening? What Precautions You Would Take Before Labelling Any Child with “Crigler–Najjar Syndrome”?
20: Case 19: A Pleasant Child Who Developed Prolonged Jaundice
21: Case 20: Prolonged Neonatal Jaundice and Cardiac Defects
22: Case 21: Neonatal Jaundice in a Child with Ocular Problem
23: Case 22: A 3-Year-Old Girl with Unexplained Vomiting and Failure to Thrive
24: Case 23: A 3-Year-Old Boy with Failure to Thrive and Progressively Stiffening Muscles
25: Case 24: A 2-Month-Old Child with Neonatal Ascites
26: Case 25: A Patient with Sickle Cell Anemia with Sudden Onset of Jaundice
27: Case 26: A 7-Year-Old Boy with Recurrence of Jaundice
28: Case 27: An 8-Year-Old Boy with Recurrent Jaundice
29: Case 28: A 3-Year-Old with Huge Liver and Abnormal Liver Functions
30: Case 29: A 15-Year-Old Boy with Prolonged Jaundice
31: Case 30: A Young Girl with Recurrent Jaundice and Vague RUQ Mass
32: Case 31: A Young Boy with Ascites
33: Case 32: Two Cases of Recurrence of Jaundice
34: Case 33: A 12-Year-Old Boy with “Obstructive Jaundice”
35: Case 34: 11-Year-Old Boy with Jaundice and Bleeding PR
36: Case 35: A Young Boy with Failed Renal Transplant and Sudden Onset of Ascites
37: Case 36: A 2-Year-Old Boy with Diarrhea, Failure to Thrive, and Hepatomegaly
38: Case 37: A Child with “Recurrent Attacks of Asthma”
39: Case 38: A 3-Year-Old Boy with Recurrent Jaundice and Severe Iron Deficiency Anemia
40: Case 39: 3-Year-Old Boy with Huge Liver
41: Case 40: A Case of Neonatal Liver Failure
42: Case 41: A Case of Acute Hepatitis and... Something More
43: Case 42: A Case of Neonatal Hepatitis and Failure to Thrive
44: Case 43: An Infant with Sudden Onset of Unilateral Ptosis and Jaundice
45: Case 44: A Neonate with Rapidly Deteriorating Liver Functions
46: Case 45: A 6-Month-Old Child with Hematemesis
47: Case 46: A Young Child with Persistent Elevation of SGOT/SGPT
48: Case 47: An Infant with Persistent Vomiting
49: Case 48: A Case of Fever and Jaundice
50: Case 49: A Neonate with Jaundice and Enlarged Liver
51: Case 50: A Case of Huge Hepatomegaly but No Hypoglycemia
52: Case 51: Pregnant Lady with HBsAg Positivity: A Pediatrician’s Perspective