Are there neurological symptoms in type 1 of gaucher disease?

Alaei, M. and Jafari, N. and Rohani, F. and Ahmadabadi, F. and Azadi, R. (2018) Are there neurological symptoms in type 1 of gaucher disease? Iranian Journal of Child Neurology, 12 (2). pp. 99-106.

[img] Text
Are there neurological symptoms in type 1 of gaucher disease.pdf

Download (291kB)
Official URL:


Objective Gaucher disease (GD) is a rare inborn error of metabolism, classified as a lipid storage disorders. This disease is caused by a deficiency in glucocerebrosidase enzyme. It has been classified according to the presence or absence of neurological symptoms into the following types: type 1 non-neuropathic, type 2 acute infantile neuropathic and type 3 or chronic neuropathic. We evaluated neurological symptoms in patients with GD1 and GD3 and compared both of these groups. Materials & Methods Eleven patients were identified according to their clinical presentation and the presence of disease confirmed by genetic testing, from 2006-2016, at the Mofid Children Hospital Clinic, Tehran, Iran. We included eight patients with GD 1 and three patients with GD3. Careful neurological examination was performed on these patients during treatment by pediatric neurologist. Results Patients with GD1 had some neurological symptoms including cognitive impairment, developmental disability, behavioral disorder, microcephaly and increased deep tendon reflexes (DTR). Of course, neurological signs in patients with type 3 of GD were different and were included seizures, supranuclear gaze palsy, cerebellar signs, and ataxia. Conclusion The current nomenclature for 3 types of Gaucher disease does not meet all clinical symptoms. Patients with GD1 display many neurological deficits in young ages not reported adequately earlier. © 2018, Iranian Child Neurology Society. All rights reserved.

Item Type: Article
Additional Information: cited By 0
Uncontrolled Keywords: glucosylceramidase, adolescent; adult; Article; ataxia; behavior disorder; cerebellum disease; child; clinical article; cognitive defect; comparative study; controlled study; developmental disorder; enzyme activity; female; Gaucher disease type 1; Gaucher disease type 3; genetic screening; human; Iran; male; microcephaly; neurologic disease; neurologic examination; neurologist; pediatric hospital; progressive supranuclear palsy; seizure; tendon reflex
Subjects: WL Nervous System
Depositing User: eprints admin
Date Deposited: 12 Dec 2018 12:32
Last Modified: 21 Jul 2019 06:12

Actions (login required)

View Item View Item