آیا علائم نورولوژیک در گوشه تیپ 1 دیده میشود؟

علایی, محمدرضا and جعفری, نرجس and روحانی, فرزانه and احمدآبادی, فرزاد and آزادی, رضوان (1397) آیا علائم نورولوژیک در گوشه تیپ 1 دیده میشود؟. Iranian journal of child neurology ــ 12 (2). pp. 99-106. شاپا 2008-0700 , 1735-4668

Text - Published Version

Official URL: http://journals.sbmu.ac.ir/ijcn/article/view/11521


Are There Neurological Symptoms in Type 1 of Gaucher Disease

English Abstract

Abstract 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. Keywords: Neurological symptom; Gaucher type 1; Gaucher type 3; Glucocerebroside

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :محمدرضا علایی
نویسنده مسئول :نرجس جعفری
نویسنده :فرزانه روحانی
نویسنده :فرزاد احمدآبادی
Additional Information:Indexed in: Scopus, PubMed/PMC, ESCI, Embase
کلیدواژه ها (انگلیسی):neurological symptom, gauche type 1, gauche type 3, glucocerebroside
Subjects:WL Nervous system
WS Pediatrics
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:12290
Deposited By: Dr Farzad Ahmadabadi
Deposited On:20 Nov 1398 13:03
Last Modified:20 Nov 1398 13:03

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