Type-3 Gaucher disease with bilateral necrosis of the neck of femur: a case report

INTRODUCTION: Though Gauchers disease (G.D.), a lipid storage disease is most commonly encountered by the hematologist but we present a case of G.D. type-3 which is rare in Indian subcontinent. CASE PRESENTATION: A 36-year-old Hindu, Indian male patient presented with bony pain, kyphosis, dragging sensation in the abdomen, dementia and ptosis of the left eyelid for one year. Clinical examination and history pointed to be a lipid storage disease. Radiological examination showed bilateral necrosis of the neck of femur. A final diagnosis of G.D. type-3 with bilateral necrosis of the femur neck was reported after examining the bone marrow smears. Unfortunately, we were unable to do the enzyme study as the patient was lost in the follow-up. CONCLUSION: G.D. type-3 with bilateral necrosis of femur neck is rare in our sub-continent. We are adding a new case to stress the importance of early recognition by clinical manifestation and finding of G.C. which is hallmark in the diagnosis of G.D.