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?
The clinical profile describes that child has Gaucher's disease. Her bone marrow biopsy shown below- Bone marrow biopsy shows GAUCHER CELL which is a macrophage filled with excess PAS-positive glucocerebroside giving "CRUMPLED TISSUE PAPER" appearance. X ray of the left distal femur shows ERLENMEYER FLASK DEFORMITY (metaphyseal flaring) This Gaucher cell and Erlenmeyer deformity signifying bone marrow infiltration along with features of pancytopenia and organomegaly points to the diagnosis of GAUCHER'S DISEASE which occurs due to deficiency of beta glucosidase. There is no mental retardation (type I) and cherry red spots as evident in other lysosomal storage disease. The mainstay of management is replacement therapy with recombinant enzymes, however it is expensive. Symptomatic treatment (cytopenias and joint replacement surgeries) have impoant roles in management. I/V enzyme therapy is the first-line treatment and is highly efficacious. Other management options: Allogenic hematopoietic stem cell transplantation Substrate reduction therapy Replacement therapy with recombinant enzymes (MAINSTAY) Transfer of normal gene into the pts hematopoietic stem cells.
Allogenic hematopoietic stem cell transplantation
Substrate reduction therapy
Replacement therapy with recombinant enzymes
Transfer of normal gene into the pts hematopoietic stem cells.
Integrated QBank