A 5-year-old child presented with abdominal distension, pallor, easy bruising and bone pain. On physical examination, hepatosplenomegaly and lymphadenopathy was noted. Child was suspected to have metabolic disorder. So, biopsy and histopathologic examination was planned from bone marrow. On staining and microscopic examination, a distended phagocytic cell was noted. It had fibrillary type of cytoplasm with eccentrically placed nucleus. PAS staining was intensively positive. The x-ray of right lower limb is given below Which of the following is the main management strategy in the above condition?
A 5-year-old child presented with abdominal distension, pallor, easy bruising and bone pain. On physical examination, hepatosplenomegaly and lymphadenopathy was noted. Child was suspected to have metabolic disorder. So, biopsy and histopathologic examination was planned from bone marrow. On staining and microscopic examination, a distended phagocytic cell was noted. It had fibrillary type of cytoplasm with eccentrically placed nucleus. PAS staining was intensively positive. The x-ray of right lower limb is given below Which of the following is the main management strategy in the above condition?
π‘ Explanation
**Core Concept**
The question describes a clinical scenario of a child with a metabolic disorder, characterized by systemic symptoms such as hepatosplenomegaly, lymphadenopathy, and specific histopathological findings in the bone marrow. The key concept here is the identification of a lysosomal storage disorder, specifically Gaucher's disease.
**Why the Correct Answer is Right**
Gaucher's disease is a genetic disorder caused by a deficiency of the enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside in lysosomes of phagocytic cells, such as macrophages. The distended phagocytic cells with fibrillary cytoplasm and eccentrically placed nuclei are characteristic of Gaucher cells. The intense positivity with Periodic Acid-Schiff (PAS) staining is also a hallmark of this disease. The management of Gaucher's disease involves enzyme replacement therapy (ERT) to replenish the deficient enzyme.
**Why Each Wrong Option is Incorrect**
**Option A:** Bone marrow transplant is not the main management strategy for Gaucher's disease. While it may be considered in some cases, ERT is the primary treatment.
**Option B:** Corticosteroids are not the mainstay of treatment for Gaucher's disease. They may be used to manage some symptoms, but they do not address the underlying enzyme deficiency.
**Option C:** Allogenic bone marrow transplant is not the main management strategy for Gaucher's disease. While it may be considered in some cases, ERT is the primary treatment.
**Clinical Pearl / High-Yield Fact**
Gaucher's disease is a lysosomal storage disorder that can be diagnosed by the presence of Gaucher cells in the bone marrow, characterized by their fibrillary cytoplasm and eccentrically placed nuclei. Enzyme replacement therapy is the mainstay of treatment for this condition.
**Correct Answer:** C. Allogenic bone marrow transplant is not the main management strategy for Gaucher's disease.
β Correct Answer: C. Replacement therapy with recombinant enzymes
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