Pediatric Liver Conditions App
Biliary Atresia
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)
Alagille Syndrome
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
Alpha-1 Antitrypsin Deficiency
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
Progressive Familial Intrahepatic Cholestasis (PFIC)
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
Autoimmune Hepatitis
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
Wilson's Disease
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
Chronic Hepatitis B
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
Glycogen Storage Disease Type I (von Gierke's disease)
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
Cystic Fibrosis-associated Liver Disease
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
Neonatal Hemochromatosis
Diagnostic History
- Fetal growth restriction
- Oligohydramnios
- Severe liver dysfunction at birth
Clinical Findings
- Hypoglycemia
- Coagulopathy
- Hypoalbuminemia
- Elevated ferritin levels
- MRI showing extrahepatic iron deposition
Crigler-Najjar Syndrome
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
Tyrosinemia Type 1
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
Galactosemia
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
Citrin Deficiency
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
Dubin-Johnson Syndrome
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
Rotor Syndrome
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
Caroli Disease
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
Byler Disease (PFIC1)
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
Congenital Hepatic Fibrosis
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)
Budd-Chiari Syndrome
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)
Hepatoblastoma
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
Hepatic Hemangioma
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
Focal Nodular Hyperplasia
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
Hepatic Adenoma
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
Niemann-Pick Disease Type C
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
Gaucher Disease
Diagnostic History
- Hepatosplenomegaly
- Bone pain
- Easy bruising
Clinical Findings
- Thrombocytopenia
- Anemia
- Reduced glucocerebrosidase enzyme activity
- Genetic testing for GBA gene mutations
Hepatic Langerhans Cell Histiocytosis
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
Hereditary Fructose Intolerance
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
Cholesteryl Ester Storage Disease
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
Hepatic Veno-Occlusive Disease
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
Neonatal Hepatitis
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
Hepatic Involvement in Mitochondrial Disorders
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
Hepatic Involvement in Cystic Fibrosis
Diagnostic History
- Known cystic fibrosis
- Malnutrition
- Steatorrhea
Clinical Findings
- Elevated liver enzymes
- Ultrasound showing increased echogenicity
- Focal biliary cirrhosis on biopsy
- CFTR gene mutations
Congenital Portosystemic Shunt
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
Zellweger Syndrome
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
Hepatic Involvement in Histiocytosis Syndromes
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
Hereditary Tyrosinemia Type II
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
Hepatic Involvement in Glycogen Storage Disease Type III
Diagnostic History
- Hepatomegaly
- Growth retardation
- Muscle weakness
Clinical Findings
- Elevated liver enzymes
- Hypoglycemia
- Liver biopsy showing glycogen accumulation
- Genetic testing for AGL gene mutations
Hepatic Involvement in Gaucher Disease Type 2
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
Hepatic Arginase Deficiency
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
Hepatic Involvement in Niemann-Pick Disease Type A/B
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
Hepatic Involvement in Wolman Disease
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
Hepatic Involvement in Methylmalonic Acidemia
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
Hepatic Involvement in Propionic Acidemia
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
Hepatic Involvement in Congenital Disorders of Glycosylation
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
Hepatic Involvement in Hereditary Hemorrhagic Telangiectasia
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
Hepatic Involvement in Alagille Syndrome
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
Hepatic Involvement in Criggler-Najjar Syndrome Type II
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
Hepatic Involvement in Hereditary Spherocytosis
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
