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Q1: What is the main differential diagnosis of this patient's initial syndrome?
In this young girl a syndrome of fever, lymphadenopathy, and hepatosplenomegaly were accompanied by intrahepatic cholestasis with high bilirubin and acute hepatocellular damage.
The differential diagnosis initially includes any cause of acute hepatitis (box 1) and/or cholestasis (box 2). The patient was not pregnant, she was not alcoholic, took no medication, and had no history of chronic disease. Serological testing excluded acute viral hepatitis A, B, and C, which may be associated with icterus, low grade fever, lymphadenopathy, and hepatosplenomegaly. Autoimmune hepatitis may present with the same signs and symptoms, although acute icteric hepatitis as a presenting symptom is rather unusual. An important step during differential diagnosis is to exclude Wilson's disease, which may be present in young adolescents, but acute hepatitis with cholestasis is also unusual. Moreover clinical and laboratory testing failed to diagnose Wilson's disease in our patient.
Box 1: Differential diagnosis of acute hepatocellular damage
Viral hepatitis (hepatitis A, hepatitis B, hepatitis C, Epstein-Barr virus, cytomegalovirus).
Autoimmune hepatitis.
Drug reaction (isoniazid, antibiotics, methyldopa)
Ischaemia (hypertension, vascular occlusion).
Metabolic/inherited disorders (Wilson's disease).
Pregnancy related disorders (acute fatty liver of pregnancy).
Box 2: Acute hepatocellular damage with prominent cholestasis
Icteric viral hepatitis (hepatitis A, hepatitis B, Epstein-Barr virus, cytomegalovirus).
Drug reaction (anabolic steroids, oestrogen).
Granulomatous diseases (mycobacterial infections, sarcoidosis, brucellosis).
Infiltrative malignancies (lymphoma).
Inflammation of intrahepatic bile ducts (acute cholangitis, graft versus host disease, AIDS, cholangiopathy).
Systemic bacterial infection.
Alcoholic liver disease.
Taking into consideration the patient's age and the acute presentation of her disease (fever, lymphadenopathy, and atypical lymphocytes on blood smear), mononucleosis-like syndrome must also be considered in the list of differential diagnoses (box 3). On the other hand, pharyngitis was not present, the heterophil antibody test was negative, and cholestasis with high bilirubin is very unusual in classical infectious mononucleosis.
Box 3: Differential diagnosis of mononucleosis-like syndrome
Epstein-Barr virus infection.
Cytomegalovirus infection.
Toxoplasma gondii infection.
Streptococcal or gonococcal pharyngitis.
Hepatitis virus A or B infection.
Acute HIV infection.
Hodgkin's or non-Hodgkin's lymphoma.