Document Type

Case Report


A six years old male child presented with tremor, ataxia, speech apraxia, supranuclear gaze palsy and hepatosplenomegaly. There was no history of seizures and psycho-cognitive abnormalities. The clinical and bone marrow findings were consistent with Gaucher's disease type 3.

KEY WORDS: Gauchers disease, Enzyme replacement therapy, Gene therapy, Bone marrow transplant.

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