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.
Chand, Prem; Ibrahim, Shahnaz; Habib, Bushra; and jan, Farida
"An unusual presentation of neurononopathic gauchers disease.,"
Pakistan Journal of Neurological Sciences (PJNS): Vol. 8
, Article 4.
Available at: http://ecommons.aku.edu/pjns/vol8/iss3/4