Quiz 1

(Ref: Harrison 20th edition, p 590; Harrison 19th p 365)
 Hepatocellular adenoma (HCA) is rare, benign hepatic neoplasia that is usually identified as a well-defined, solitary lesion. Hepatocellular adenoma occurs predominantly in childbearing women and is related to endogenous or exogenous estrogen levels. High doses and long duration of OC, as well as pregnancy, are associated with a higher incidence of HCA, whereas discontinuation of OC is associated with regression of HCA
 An angiomyolipoma is a very rare hepatic tumor consisting of fat, epithelioid, and smooth muscle cells with thick walled blood vessels.

(Ref: Harrison 20th edition p 2982; Fitzpatrick color atlas, 8th edition p 834)
The combination of neuropsychiatric presentation with liver involvement points to possible diagnosis of Wilson disease. The main clue is blue pigmentation over the lunula. For work up and identification of KF ring, slit lamp examination should be done.

(Ref: Robbin’s pathology 9th edition, p 151-154)
 The key word in the question is crumpled tissue paper appearance of cytoplasm in bone marrow examination.
 In the setting of organomegaly and pancytopenia, the patient has a storage disorder.
 Lysosomal storage of glucocerebroside in cells of the monocyte – macrophage system leads to a characteristic cellular alteration of these cells.
 Gaucher cells have a large cytoplasmic mass with a striated appearance that has been linkened to “wrinkled or crumpled tissue paper” or crumpled silk”.
 GCs are present in the bone marrow, spleen, lymph nodes, hepatic sinusoids, and other organs and tissues in all forms of GD
 Gaucher’s disease type 1 is a non – neuronopathic disease that can present in childhood to adulthood with slowly to rapidly progressive visceral disease. About 55 – 60% of such patients are diagnosed at < 20 years. This pattern of presentation is distinctly bimodal, with peaks at < 10 to 15 years and at > 25 years.