PT  - JOURNAL ARTICLE
AU  - Rizk, Tamer M.
AU  - Ariganjoye, Rafiu O.
AU  - Alsaeed, Gihad I.
TI  - Gaucher disease
AID  - 10.17712/nsj.2015.3.20140622
DP  - 2015 Jul 01
TA  - Neurosciences Journal
PG  - 271--276
VI  - 20
IP  - 3
4099  - http://nsj.org.sa/content/20/3/271.short
4100  - http://nsj.org.sa/content/20/3/271.full
SO  - Neurosciences (Riyadh)2015 Jul 01; 20
AB  - We aim to describe an 8-year-old boy with an unusual clinical presentation of Gaucher disease (GD). Gaucher disease is a progressive lysosomal storage disorder due to deficiency of the specific enzyme glucocerebrosidase with varying clinical features, but often involving the monocytes-macrophages systems. This child ran a progressive course with a devastating outcome. Three distinct GD subtypes have been described with varying clinical features based on the presence or absence of neurologic involvement. Gaucher disease diagnosis is obtained via: enzyme activity assay, gene mutation study, bone marrow aspiration in addition to multiple other tests that have been successfully used in diagnosis of cases of GD. Treatment modalities include enzyme replacement treatment, substrate reduction therapy, bone marrow transplantation, blood transfusion, and surgery are available management modalities for GD. Gaucher disease is a chronic disease requiring a multidisciplinary team approach with regular follow up with multiple subspecialties.