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Presented by Pedram Argani, M.D. and prepared by Orin Buetens, M.D.
Case 2: 7-year-old male with pancytopenia and splenomegaly.
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Question 1 of 1
1. Question
Week 12: Case 2
7-year-old male with pancytopenia and splenomegaly. Bone marrow biopsy is obtained.
Correct
Answer: Gaucher Disease
Histology: The bone marrow is of appropriate cellularity and contains residual islands of normal hematopoiesis. However, there is a diffuse infiltrate of mononuclear cells characterized by wrinkled, tissue paper-like cytoplasm. At higher power, cytoplasmic striations are clearly evident. These features, in the appropriate clinical setting, are diagnostic of Gaucher disease.
Gaucher disease results from a defect in the breakdown of glucocerebroside which is a component of cell membranes. Glucocerebroside is most prevalent in the membranes of white blood cells. The macrophages of the reticuloendothelial system, which remove effete white blood cells from the circulation, are unable to degrade glucocerebroside. This leads to their enlargement. Gaucher disease presents in three distinct fashions. The type 1 presentation is a chronic disorder in which the CNS is not involved. Patients may present in adulthood, and there is a predilection for the Ashkenazi Jewish population. Patients have a normal lifespan. Type 2 Gaucher disease presents in infancy as a neuronopathic disorder. Most children die of this disorder in infancy. The type 3 form is subacute, and therefore intermediate in presentation between type 1 and type 2. A progressive neuronopathic course is the rule.
Discussion: Langerhans cell histiocytosis is characterized by histiocytes with a coffee-bean shape and nuclear grooves. These cells would label for CD1a and S100 protein, and often are associated with an infiltrate of eosinophils. A diagnosis of a hemophagocytic syndrome requires engulfment of normal hematopoietic elements by enlarged macrophages in the appropriate clinical setting. The marrow usually shows hyperplasia of histiocytes and reduction of normal marrow elements. The cells of mastocytosis can range from polygonal (simulating hairy cell leukemia) to spindled (simulating fibroblasts) in their morphology. They do not have the striated cytoplasmic appearance of Gaucher cells. These cells would be immunoreactive for mast cell tryptase, and frequently are associated with eosinophils.
Incorrect
Answer: Gaucher Disease
Histology: The bone marrow is of appropriate cellularity and contains residual islands of normal hematopoiesis. However, there is a diffuse infiltrate of mononuclear cells characterized by wrinkled, tissue paper-like cytoplasm. At higher power, cytoplasmic striations are clearly evident. These features, in the appropriate clinical setting, are diagnostic of Gaucher disease.
Gaucher disease results from a defect in the breakdown of glucocerebroside which is a component of cell membranes. Glucocerebroside is most prevalent in the membranes of white blood cells. The macrophages of the reticuloendothelial system, which remove effete white blood cells from the circulation, are unable to degrade glucocerebroside. This leads to their enlargement. Gaucher disease presents in three distinct fashions. The type 1 presentation is a chronic disorder in which the CNS is not involved. Patients may present in adulthood, and there is a predilection for the Ashkenazi Jewish population. Patients have a normal lifespan. Type 2 Gaucher disease presents in infancy as a neuronopathic disorder. Most children die of this disorder in infancy. The type 3 form is subacute, and therefore intermediate in presentation between type 1 and type 2. A progressive neuronopathic course is the rule.
Discussion: Langerhans cell histiocytosis is characterized by histiocytes with a coffee-bean shape and nuclear grooves. These cells would label for CD1a and S100 protein, and often are associated with an infiltrate of eosinophils. A diagnosis of a hemophagocytic syndrome requires engulfment of normal hematopoietic elements by enlarged macrophages in the appropriate clinical setting. The marrow usually shows hyperplasia of histiocytes and reduction of normal marrow elements. The cells of mastocytosis can range from polygonal (simulating hairy cell leukemia) to spindled (simulating fibroblasts) in their morphology. They do not have the striated cytoplasmic appearance of Gaucher cells. These cells would be immunoreactive for mast cell tryptase, and frequently are associated with eosinophils.
