A 4-year-old child with painless hepatosplenomegaly has bone marrow aspiration showing large macrophages with fibrillary cytoplasm resembling crumpled tissue paper. Acid beta-glucosidase activity in leukocytes is reduced. Which additional complication should be anticipated in this child?
- A Corneal clouding with dysostosis multiplex
- B Cherry-red spot at the macula
- C Aseptic necrosis of the femoral head and Erlenmeyer flask deformity of femur ✓
- D Recurrent sinopulmonary infections with absent B cells
Correct answer: C. Aseptic necrosis of the femoral head and Erlenmeyer flask deformity of femur
Explanation
Gaucher disease (glucocerebrosidase deficiency) produces lipid-laden macrophages with crumpled tissue-paper cytoplasm. Type 1 disease features hepatosplenomegaly, hypersplenism, and skeletal involvement including avascular necrosis of the femoral head, osteopenia, and Erlenmeyer flask deformity. Cherry-red spot occurs in sphingolipidoses with neuronal storage such as Tay-Sachs and Niemann-Pick, and glycosaminoglycan features belong to mucopolysaccharidoses.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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