HEPATOMEGALY
 
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HEPATOMEGALY

 

DEFINITION:

Enlargement of the liver.

EPIDEMIOLOGY:

  • incidence: ?
  • age of onset:
    • newborn -> adulthood
  • risk factors:
    • see differential diagnosis

DIFFERENTIAL DIAGNOSIS:

1. Cardiovascular

  • Congestive Heart Failure

2. Gastrointestinal

1. Infectious/Inflammatory

1. Infections

  • Hepatitis A->E
  • CMV, EBV, HSV, Toxoplasmosis, Listeriosis, Toxocara
  • Entameba Histiolytica Enteritis

2. Inflammatory

  • Sclerosing Cholangitis
  • Autoimmune Chronic Active Hepatitis
  • Lyme Disease
  • Hemolytic Uremic Syndrome
  • Henoch-Schoenlein Purpura
  • Ulcerative Colitis

2. Cysts/Tumors

  • Congenital Hepatic Cysts
  • Post-traumatic Pseudocyts
  • Hepatoblastoma
  • HEPATOMEGALY (Hepatoma)
  • Adenomas

3. Cholestatic States

  • Alagille Syndrome
  • Benign Recurrent Intrahepatic Cholestasis
  • Byler Disease
  • Cholestasis - Lymphedema
  • Neonatal Hepatitis
  • NSP of Interlobular Bile Ducts

4. Others

  • Hypervitaminosis A

3. Hematology/Oncology

1. Hematology

1. Anemia

  • Congenital Dyserythropoietic Anemia
  • Diamond-Blackfan Anemia
  • Sideroblastic Anemia
  • Thalassemia

2. Immunodeficiencies

  • Chediak-Higashi Disease
  • Chronic Granulomatous Disease
  • Omenn Disease
  • Wiskott-Aldrich Syndrome

2. Oncology

  • Hodgkins Lymphoma
  • Neuroblastoma

4. Metabolic

1. Lipid Metabolism

1. Lipid Storage Disorders

  • Fabry Disease
  • Farber Disease
  • Wolman Disease
  • Fucosidosis
  • GM1 Gangliosidoses
  • Gaucher's Disease
  • Sandhoff Disease

2. Fatty Acid Oxidation Disorders

  • MCAD
  • LCAD
  • SCAD

2. Carbohydrate (CHO) Metabolism

1. CHO Storage Disorders

  • Ia - Von Gierke
  • II - Pompe's
  • III - Forbes
  • VI - Hers

2. Disorders of Gluconeogenesis

  • Galactosemia I & II
  • Hereditary Fructose Intolerance
  • Fructose-1,6-Diphosphatase Deficiency

3. Mucopolysaccharide Metabolism

  • Hurler - Sanfillipo
  • Hunter - Sly

4. Urea Cycle Disorders

  • CPS Deficiency - Argininosuccinic Aciduria
  • OTC Deficiency - Argininemia
  • Citrullinemia

5. Amino Acid Metabolism

  • Tyrosinemia-I
  • Hawkinsinuria

6. Others

  • Wilson's Disease

5. Genetic

  • Beckwith Wiedemann Syndrome
  • TAR Syndrome
  • Trisomy 21

CLINICAL FEATURES:

1. Gastrointestinal Manifestatons

  • enlargened liver
  • abdominal mass +/- abdominal pain

INVESTIGATIONS:

1. First Line

1. Serum

  • CBC (anemia)
  • liver function tests, bilirubin (liver/biliary disease)
  • ammonia (urea cycle disorders)
  • glucose (fatty acid oxidation disorders)
  • alpha-fetoprotein, beta-hCG

2. Urine

  • ketones
  • reducing substances (Clinistix [glucose], Clinitest [galactose, fructose])
  • urine amino acids
  • urine organic acids
  • urine mucopolysaccharides

3. Imaging Studies

  • abdominal ultrasound/CT (extrahepatic obstruction, tumors)

2. Second Line

1. Serum

  • serum copper and ceruloplasmin
  • serology (hepatitis, CMV, EBV, HSV, Lyme, toxoplasmosis, rubella, varicella)
  • immunoglobulins, serum ANA, antismooth muscle antibody
  • alpha-1-antitrypsin
  • vitamin A levels
  • INR, PTT

2. Liver Biopsy

  • glycogen, lipid, cirrhosis

3. Others

  • bone marrow
  • karyotype
  • small bowel follow-thru, ERCP, barium enema
  • endoscopy, colonoscopy

4. Diagnostic

1. Enzyme Studies

  • on tissue samples (liver), leukocytes, cultured skin fibroblasts

2. Molecular DNA Studies

  • PCR, RFLP, DNA markers

MANAGEMENT:

1. Supportive

  • treat underlying disorder

 

 

 

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