Diagnostic History

• Prolonged jaundice beyond 2 weeks of age
• Pale or acholic stools
• Dark urine
• Failure to thrive

Clinical Findings

• Hepatomegaly
• Splenomegaly
• Ascites (in advanced cases)
• Elevated direct bilirubin
• Elevated liver enzymes (AST, ALT, GGT)

Diagnostic History

• Jaundice in infancy
• Pruritus
• Poor growth
• Heart murmur

Clinical Findings

• Characteristic facial features (broad forehead, deep-set eyes, pointed chin)
• Butterfly vertebrae
• Peripheral pulmonary stenosis
• Posterior embryotoxon in the eyes
• Liver biopsy showing bile duct paucity

Diagnostic History

• Family history of liver disease or emphysema
• Unexplained neonatal cholestasis
• Early-onset emphysema in adults

Clinical Findings

• Elevated liver enzymes
• Low serum alpha-1 antitrypsin levels
• Liver biopsy showing PAS-positive, diastase-resistant globules
• Genetic testing for SERPINA1 gene mutations

Diagnostic History

• Early-onset cholestasis
• Severe pruritus
• Failure to thrive
• Family history of liver disease

Clinical Findings

• Low or normal GGT (in PFIC1 and PFIC2)
• Elevated serum bile acids
• Genetic testing for mutations in ATP8B1 (PFIC1), ABCB11 (PFIC2), or ABCB4 (PFIC3) genes
• Liver biopsy showing canalicular cholestasis

Diagnostic History

• Fatigue
• Abdominal pain
• Jaundice
• Joint pain

Clinical Findings

• Elevated liver enzymes (AST, ALT)
• Positive antinuclear antibodies (ANA) or anti-smooth muscle antibodies (ASMA)
• Elevated IgG levels
• Liver biopsy showing interface hepatitis

Diagnostic History

• Family history of liver disease or neurological disorders
• Jaundice
• Neurological symptoms (tremors, coordination problems)
• Psychiatric symptoms

Clinical Findings

• Low serum ceruloplasmin
• Elevated 24-hour urinary copper excretion
• Kayser-Fleischer rings in the eyes
• Liver biopsy showing increased hepatic copper content
• Genetic testing for ATP7B gene mutations

Diagnostic History

• Maternal HBV infection
• Fatigue
• Abdominal pain
• Jaundice (in some cases)

Clinical Findings

• Positive HBsAg for more than 6 months
• Elevated liver enzymes
• Positive HBeAg or anti-HBe antibodies
• Detectable HBV DNA
• Liver biopsy showing chronic hepatitis

Diagnostic History

• Hypoglycemia
• Failure to thrive
• Abdominal distension
• Delayed growth

Clinical Findings

• Hepatomegaly
• Lactic acidosis
• Hypertriglyceridemia
• Hyperuricemia
• Genetic testing for G6PC (GSDIa) or SLC37A4 (GSDIb) gene mutations

Diagnostic History

• Known cystic fibrosis diagnosis
• Recurrent respiratory infections
• Malnutrition
• Abdominal pain

Clinical Findings

• Elevated liver enzymes
• Hepatomegaly
• Ultrasound evidence of hepatic steatosis or cirrhosis
• Positive sweat chloride test
• CFTR gene mutations

Diagnostic History

• Fetal growth restriction
• Oligohydramnios
• Severe liver dysfunction at birth

Clinical Findings

• Hypoglycemia
• Coagulopathy
• Hypoalbuminemia
• Elevated ferritin levels
• MRI showing extrahepatic iron deposition

Diagnostic History

• Severe unconjugated hyperbilirubinemia from birth
• Jaundice
• Risk of kernicterus

Clinical Findings

• Extremely high unconjugated bilirubin levels
• Normal liver function tests
• Genetic testing for UGT1A1 gene mutations
• Absence of hemolysis

Diagnostic History

• Failure to thrive
• Vomiting
• Diarrhea
• Cabbage-like odor

Clinical Findings

• Hepatomegaly
• Renal tubular dysfunction
• Elevated tyrosine and methionine in blood and urine
• Elevated alpha-fetoprotein
• Genetic testing for FAH gene mutations

Diagnostic History

• Poor feeding
• Vomiting
• Jaundice
• Lethargy

Clinical Findings

• Hepatomegaly
• Cataracts
• Elevated galactose and galactose-1-phosphate in blood
• Reduced GALT enzyme activity
• Genetic testing for GALT gene mutations

Diagnostic History

• Neonatal intrahepatic cholestasis
• Failure to thrive
• Preference for protein-rich and lipid-rich foods

Clinical Findings

• Elevated citrulline in plasma
• Elevated threonine-to-serine ratio
• Fatty liver on imaging
• Genetic testing for SLC25A13 gene mutations

Diagnostic History

• Mild jaundice
• Often asymptomatic
• May be exacerbated by pregnancy or oral contraceptives

Clinical Findings

• Elevated conjugated bilirubin
• Normal liver function tests
• Characteristic dark liver on imaging or biopsy
• Genetic testing for ABCC2 gene mutations

Diagnostic History

• Mild jaundice
• Often asymptomatic
• Similar presentation to Dubin-Johnson Syndrome

Clinical Findings

• Elevated conjugated and unconjugated bilirubin
• Normal liver function tests
• Normal liver histology
• Genetic testing for SLCO1B1 and SLCO1B3 gene mutations

Diagnostic History

• Recurrent cholangitis
• Right upper quadrant pain
• Fever

Clinical Findings

• Hepatomegaly
• Dilated intrahepatic bile ducts on imaging
• Renal cysts (in Caroli syndrome)
• Elevated liver enzymes during cholangitis episodes

Diagnostic History

• Cholestasis in infancy
• Severe pruritus
• Failure to thrive

Clinical Findings

• Low GGT despite cholestasis
• Elevated serum bile acids
• Genetic testing for ATP8B1 gene mutations
• Liver biopsy showing canalicular cholestasis

Diagnostic History

• Portal hypertension
• Gastrointestinal bleeding
• Abdominal distension

Clinical Findings

• Hepatomegaly
• Splenomegaly
• Normal or mildly elevated liver enzymes
• Liver imaging showing fibrotic bands
• Associated renal cysts (in some cases)

Diagnostic History

• Abdominal pain
• Hepatomegaly
• Ascites

Clinical Findings

• Elevated liver enzymes
• Imaging showing hepatic vein thrombosis
• Liver biopsy showing centrilobular congestion
• Underlying prothrombotic conditions (in some cases)

Diagnostic History

• Abdominal mass
• Abdominal pain
• Weight loss
• Anorexia

Clinical Findings

• Elevated alpha-fetoprotein (AFP)
• Imaging showing liver mass
• Biopsy confirming hepatoblastoma
• Associated with Beckwith-Wiedemann syndrome or familial adenomatous polyposis

Diagnostic History

• Often asymptomatic
• Incidental finding on imaging
• Rarely, high-output cardiac failure in large lesions

Clinical Findings

• Normal liver function tests
• Characteristic appearance on ultrasound, CT, or MRI
• May be associated with cutaneous hemangiomas

Diagnostic History

• Usually asymptomatic
• Incidental finding on imaging

Clinical Findings

• Normal liver function tests
• Characteristic central scar on imaging
• Technetium-99m sulfur colloid scan showing increased uptake

Diagnostic History

• Often asymptomatic
• Right upper quadrant pain
• History of oral contraceptive use or anabolic steroids

Clinical Findings

• Normal or mildly elevated liver enzymes
• Characteristic appearance on contrast-enhanced MRI
• Risk of rupture and malignant transformation

Diagnostic History

• Hepatosplenomegaly
• Progressive neurological symptoms
• Vertical supranuclear gaze palsy

Clinical Findings

• Elevated cholesterol in liver biopsy
• Filipin staining of cultured fibroblasts
• Genetic testing for NPC1 or NPC2 gene mutations

Diagnostic History

• Hepatosplenomegaly
• Bone pain
• Easy bruising

Clinical Findings

• Thrombocytopenia
• Anemia
• Reduced glucocerebrosidase enzyme activity
• Genetic testing for GBA gene mutations

Diagnostic History

• Hepatomegaly
• Jaundice
• Failure to thrive

Clinical Findings

• Elevated liver enzymes
• Imaging showing nodular liver lesions
• Biopsy showing characteristic Langerhans cells
• Positive CD1a and S100 staining

Diagnostic History

• Vomiting and hypoglycemia after fructose ingestion
• Failure to thrive
• Aversion to sweet foods

Clinical Findings

• Elevated liver enzymes
• Fructose challenge test (under controlled conditions)
• Genetic testing for ALDOB gene mutations

Diagnostic History

• Hepatomegaly
• Hyperlipidemia
• Premature atherosclerosis

Clinical Findings

• Elevated liver enzymes
• Low HDL cholesterol
• Reduced lysosomal acid lipase activity
• Genetic testing for LIPA gene mutations

Diagnostic History

• History of hematopoietic stem cell transplantation
• Right upper quadrant pain
• Weight gain

Clinical Findings

• Hepatomegaly
• Ascites
• Elevated bilirubin and liver enzymes
• Doppler ultrasound showing reversed portal vein flow

Diagnostic History

• Jaundice persisting beyond 2 weeks of age
• Poor feeding
• Acholic stools

Clinical Findings

• Elevated conjugated bilirubin
• Elevated transaminases
• Liver biopsy showing giant cell transformation
• Exclusion of other causes of neonatal cholestasis

Diagnostic History

• Multisystem involvement
• Failure to thrive
• Neurological symptoms

Clinical Findings

• Elevated lactate and pyruvate
• Abnormal liver function tests
• Muscle biopsy showing ragged red fibers
• Genetic testing for mitochondrial DNA mutations

Diagnostic History

• Known cystic fibrosis
• Malnutrition
• Steatorrhea

Clinical Findings

• Elevated liver enzymes
• Ultrasound showing increased echogenicity
• Focal biliary cirrhosis on biopsy
• CFTR gene mutations

Diagnostic History

• Often asymptomatic in early childhood
• Hepatic encephalopathy
• Hepatopulmonary syndrome

Clinical Findings

• Elevated ammonia levels
• Imaging (ultrasound, CT, or MRI) showing portosystemic shunt
• Associated congenital heart defects in some cases

Diagnostic History

• Dysmorphic facial features
• Hepatomegaly
• Severe hypotonia
• Seizures

Clinical Findings

• Elevated very long chain fatty acids
• Abnormal liver function tests
• Absent peroxisomes on liver biopsy
• Genetic testing for PEX gene mutations

Diagnostic History

• Hepatomegaly
• Jaundice
• Fever
• Skin rash

Clinical Findings

• Elevated liver enzymes
• Imaging showing nodular liver lesions
• Biopsy showing histiocytic infiltration
• CD1a and/or CD207 positive cells

Diagnostic History

• Eye pain and redness
• Skin lesions on palms and soles
• Developmental delay

Clinical Findings

• Elevated tyrosine in blood and urine
• Normal liver function tests
• Corneal crystals on slit-lamp examination
• Genetic testing for TAT gene mutations

Diagnostic History

• Hepatomegaly
• Growth retardation
• Muscle weakness

Clinical Findings

• Elevated liver enzymes
• Hypoglycemia
• Liver biopsy showing glycogen accumulation
• Genetic testing for AGL gene mutations

Diagnostic History

• Hepatosplenomegaly
• Severe neurological involvement
• Failure to thrive

Clinical Findings

• Elevated chitotriosidase
• Reduced glucocerebrosidase enzyme activity
• Genetic testing for GBA gene mutations
• Liver biopsy showing Gaucher cells

Diagnostic History

• Progressive spasticity
• Developmental delay
• Seizures

Clinical Findings

• Elevated arginine in blood and urine
• Hyperammonemia
• Reduced arginase enzyme activity
• Genetic testing for ARG1 gene mutations

Diagnostic History

• Hepatosplenomegaly
• Failure to thrive
• Cherry-red spot in the eye (Type A)

Clinical Findings

• Elevated liver enzymes
• Reduced acid sphingomyelinase activity
• Foam cells on bone marrow biopsy
• Genetic testing for SMPD1 gene mutations

Diagnostic History

• Hepatosplenomegaly
• Failure to thrive
• Vomiting and diarrhea

Clinical Findings

• Adrenal calcifications on imaging
• Elevated liver enzymes
• Reduced lysosomal acid lipase activity
• Genetic testing for LIPA gene mutations

Diagnostic History

• Poor feeding
• Vomiting
• Lethargy
• Developmental delay

Clinical Findings

• Metabolic acidosis
• Hyperammonemia
• Elevated methylmalonic acid in urine
• Genetic testing for MUT, MMAA, or MMAB gene mutations

Diagnostic History

• Poor feeding
• Vomiting
• Lethargy
• Seizures

Clinical Findings

• Metabolic acidosis
• Hyperammonemia
• Elevated propionylcarnitine on newborn screening
• Genetic testing for PCCA or PCCB gene mutations

Diagnostic History

• Failure to thrive
• Developmental delay
• Multisystem involvement

Clinical Findings

• Abnormal transferrin isoelectric focusing
• Elevated transaminases
• Coagulopathy
• Genetic testing for various CDG-related genes

Diagnostic History

• Recurrent nosebleeds
• Mucocutaneous telangiectasias
• Family history of HHT

Clinical Findings

• Liver vascular malformations on imaging
• High-output cardiac failure in severe cases
• Genetic testing for ENG, ACVRL1, or SMAD4 gene mutations

Diagnostic History

• Cholestasis
• Characteristic facies
• Heart murmur

Clinical Findings

• Paucity of bile ducts on liver biopsy
• Butterfly vertebrae on X-ray
• Posterior embryotoxon on eye exam
• Genetic testing for JAG1 or NOTCH2 gene mutations

Diagnostic History

• Intermittent jaundice
• Exacerbation during illness or stress

Clinical Findings

• Elevated unconjugated bilirubin
• Normal liver function tests
• Partial response to phenobarbital
• Genetic testing for UGT1A1 gene mutations

Diagnostic History

• Jaundice
• Anemia
• Splenomegaly

Clinical Findings

• Elevated unconjugated bilirubin
• Spherocytes on peripheral blood smear
• Increased osmotic fragility
• Genetic testing for SPTA1, SPTB, ANK1, SLC4A1, or EPB42 gene mutations

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.