Pediatric Liver Conditions With Diagnostic Clinical History and Findings

Liver Disorders

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
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