Intrahepatic disorders Intrahepatic cholestasis persistent Idiopathic"neonatal hepatitis Alagille syndrome(arteriohepatic dysplasia) Intrahepatic biliary hypoplasia or paucity of intrahepatic bile ducts(nonsyndromic) Progressive familial intrahepatic cholestasis(PFic) Intrahepatic cholestasis, recurrent Familial benign recurrent cholestasis associated with lymphedema(Aagenaes) Congenital hepatic fibrosis Caroli disease(cystic dilatation of intrahepatic ducts)
Intrahepatic disorders ◼ Intrahepatic cholestasis, persistent ◼ “Idiopathic” neonatal hepatitis ◼ Alagille syndrome (Arteriohepatic dysplasia) ◼ Intrahepatic biliary hypoplasia or paucity of intrahepatic bile ducts (nonsyndromic) ◼ Progressive familial intrahepatic cholestasis (PFIC) ◼ Intrahepatic cholestasis, recurrent ◼ Familial benign recurrent cholestasis associated with lymphedema (Aagenaes) ◼ Congenital hepatic fibrosis ◼ Caroli disease (cystic dilatation of intrahepatic ducts)
Metabolic disorders Disorders of amino acid metabolism Tyrosinemia Disorders of lipid metabolism Wolman s disease cholesterol ester storage disease Niemann-Pick disease Gaucher' s disease Disorders of carbohydrate metabolism Galactosemia Fructosemia Glycogen storage disease, Type Iv Disorders of bile acid metabolism other metabolic defects 1-antitrypsin deficiency Cystic fibrosis Idiopathic hypopituitarism Hypothyroidism
Metabolic disorders ◼ Disorders of amino acid metabolism ◼ Tyrosinemia ◼ Disorders of lipid metabolism ◼ Wolman’s disease/cholesterol ester storage disease ◼ Niemann-Pick disease ◼ Gaucher’s disease ◼ Disorders of carbohydrate metabolism ◼ Galactosemia ◼ Fructosemia ◼ Glycogen storage disease, Type IV ◼ Disorders of bile acid metabolism ◼ Other metabolic defects ◼ 1-antitrypsin deficiency ◼ Cystic fibrosis ◼ Idiopathic hypopituitarism ◼ Hypothyroidism
Infectious Generalized bacterial sepsis with possible endotoxemia Viral infection Cytomegalovirus(CMv) Rubella virus Herpes virus(HSv and HHV-6 and -7) varicella virus Coxsackie virus ECHO Virus reovirus type 3 Human immunodeficiency virus(HIv) Parvovirus b19 HepatItis A, B, and C virus(rare) others Toxoplasmosis ypl tuberculosis Listeriosis
Infectious ◼ Generalized bacterial sepsis with possible endotoxemia ◼ Viral infection ◼ Cytomegalovirus (CMV) ◼ Rubella virus ◼ Herpes virus (HSV and HHV-6 and -7) ◼ varicella virus ◼ Coxsackie virus ◼ ECHO virus ◼ reovirus type 3 ◼ Human immunodeficiency virus (HIV) ◼ Parvovirus B19 ◼ Hepatitis A, B, and C virus (rare) ◼ others ◼ Toxoplasmosis ◼ Syphilis ◼ tuberculosis ◼ Listeriosis
Genetic and miscellaneous genetic or chromosomal Trisomy E Down syndrome Donahue syndrome(leprechaunism Miscellaneous Langerhans cell histiocytosis Shock or hypoperfusion Associated with intestinal obstruction Associated with enteritis Neonatal lupus erythematosus
Genetic and Miscellaneous ◼ Genetic or chromosomal ◼ Trisomy E ◼ Down syndrome ◼ Donahue syndrome (leprechaunism) ◼ Miscellaneous ◼ Langerhans cell histiocytosis ◼ Shock or hypoperfusion ◼ Associated with intestinal obstruction ◼ Associated with enteritis ◼ Neonatal lupus erythematosus
Differentiation of cholestasis The clinical features of any form of cholestasis are similar In an affected neonate, the diagnosis of certain entities such as galactosemia, sepsis and hypothyroidism is relatively simple a In most cases the cause of cholestasis is more obscure e Differentiation among biliary atresia anepatic idopathic neonatal hepatitis, and intra cholestasis is particularly difficult
Differentiation of cholestasis ◼ The clinical features of any form of cholestasis are similar. ◼ In an affected neonate, the diagnosis of certain entities, such as galactosemia, sepsis, and hypothyroidism, is relatively simple. ◼ In most cases, the cause of cholestasis is more obscure. ◼ Differentiation among biliary atresia, idopathic neonatal hepatitis, and intrahepatic cholestasis is particularly difficult