Chronic neuronopathic gaucher disease in Egyptian children : impact of enzyme replacement therapy
Joint Authors
Abd Al-Wahhab, M.
al-Beshlawy, A.
Rajab, L.
Salim, L.
Id, K.
Hamdi, M.
Fatin, E.
Mistry, P.
Source
Egyptian Pediatric Association Gazette
Issue
Vol. 55, Issue 2 (30 Apr. 2007), pp.53-63, 11 p.
Publisher
Egyptian Pediatric Association
Publication Date
2007-04-30
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Topics
Abstract EN
Background: Gaucher disease (GD) type 3 is a chronically progressive form of the illness that can present with a range of severity of systemic disease and neurological deficit.
Enzyme Replacement therapy (ERT) has good effects on visceral and hematological disease but its effect on existing neurological signs and their progression is unclear.
There are reports that ERT can prevent further deterioration and even have positive effects on existing neurological symptoms.
Other reports have found no impact on the neurological disease and its further progression.
Aims: to evaluate the effects of ERT on various aspects of the systemic and neurologic abnormalities in 23 Egyptian patients with GDtype3.
Methods'.
Patients were started on ERT with a period of follow- up ranging from 4 to 9 years and were assessed every 6 to 12 months.
Assessment included anthropometric measurements, hematologic parameters, liver and splenic volumes as well as a thorough neurological evaluation.
Genotyping for glucocerebrosidase (GBA) gene mutations was performed by gene sequencing.
Results: After the start of ERT, there was marked improvement in hematological and growth parameters as well as decrease in liver and splenic volumes.
Patients had various combinations of neurological manifestations in the form of supranuclear gaze palsy, squint, myoclonus, bulbar signs, ataxia pyramidal, and extrapyramidal abnormalities, seizures, cognitive impairment as well as EEG changes.
Many of these signs improved, regressed or were stable whereas in a few patients there was deterioration.
Conclusion: ERT seems not only to slow down neurological deterioration but can also improve some of the neurological signs seen in mild to moderate GD type 3.
Though ERT wasn't recommended in many studies for the neurological deficit in these patients, our study showed that it can be quite effective in improving neurological manifestations in these patients.
American Psychological Association (APA)
al-Beshlawy, A.& Rajab, L.& Abd Al-Wahhab, M.& Salim, L.& Id, K.& Hamdi, M.…[et al.]. 2007. Chronic neuronopathic gaucher disease in Egyptian children : impact of enzyme replacement therapy. Egyptian Pediatric Association Gazette،Vol. 55, no. 2, pp.53-63.
https://search.emarefa.net/detail/BIM-290227
Modern Language Association (MLA)
al-Beshlawy, A.…[et al.]. Chronic neuronopathic gaucher disease in Egyptian children : impact of enzyme replacement therapy. Egyptian Pediatric Association Gazette Vol. 55, no. 2 (Apr. 2007), pp.53-63.
https://search.emarefa.net/detail/BIM-290227
American Medical Association (AMA)
al-Beshlawy, A.& Rajab, L.& Abd Al-Wahhab, M.& Salim, L.& Id, K.& Hamdi, M.…[et al.]. Chronic neuronopathic gaucher disease in Egyptian children : impact of enzyme replacement therapy. Egyptian Pediatric Association Gazette. 2007. Vol. 55, no. 2, pp.53-63.
https://search.emarefa.net/detail/BIM-290227
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 62-63
Record ID
BIM-290227