An unusual presentation of neurononopathic gauchers disease.

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\u27s disease type 3. KEY WORDS: Gauchers disease, Enzyme replacement therapy, Gene therapy, Bone marrow transplant