Are there neurological symptoms in the type 1of Gaucher disease?

mohammad reza alai--- Pediatric Neurology Department, Mofid Children’s Hospital and Imam Hossein Hopital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran,
Narjes Jafari---




Gaucher disease is the most common of the inborn error of metabolic disorder that  known as lipid storage disorders. This disorder  is caused by a deficiency of the enzyme glucocerebrosidase. .There for , glucocerebroside accumulate in multiple organs. Symptoms may begin at any age ( in early life until the adulthood )and include skeletal disorders, organomegally , and cytopenia. Gaucher disease is classified into three types. type 1 is the most common form and named non neuropatic form . Type 2 is named acute infantile neuropathic form,because  severe neurological symptoms  are apparent by 3 months of age. Type 3  is named chronic neuropathic form. Videlicet,this disorder  is classified on the presence or absence of neurological symptoms .

Material and methods

In this study , We assesed neurological symptoms in  our GD1patients and compared them with  GD3 patients.

 Three patients with GD3 and eight patients with GD1 entered in this study.


We found in this study that patients with GD1  had  neurological  problems  including: Cognitive impairment,developmental disability ,behavioral disorder, microcephaly ,increased DTR,too.

Though,some symptoms including :seizure,supranuclear gaze palsy, cerebellar sign and ataxia only excist in GD3 patients .


In previous studies has  mentioned  that distinction between type 1 and 3 is by  neurological symptoms  but we found  some neurological signs  are seen in Type 1,too. Although, the neurological symptoms are  most severe in type 3 and some symtoms only detected in GD3 . So,  generally neurological symptoms alone can not  differentiate the types of gauche disease.


neurological symptom, gauche type 1, gauche type 3, glucocerebroside

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