| CASE REPORT |
|
| Year : 2019 | Volume
: 10
| Issue : 3 | Page : 103-105 |
|
|
RAB27A mutation in a patient with griscelli syndrome type 2, successfully cured by hematopoietic stem cell transplantation: Sustained remission
Abdullah A Baothman1, Fatima Mehdawi2, Loie Goronfolah1, Hani Almalki3
1 King Abdullah International Medical Research Center; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences; Department of Pediatrics, King Abdulaziz Medical City-Western Region, Ministry of The National Guard-Health Affairs, Jeddah, Saudi Arabia
2 Department of Pediatrics, King Abdul-Aziz University Hospital, Jeddah, Saudi Arabia
3 King Abdullah International Medical Research Center; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City-Western Region, Jeddah, Saudi Arabia
Correspondence Address:
Dr. Hani Almalki
King Abdullah International Medical Research Center, King Abdulaziz Medical City, Western Region, Jeddah, Saudi Arabia. King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Western Region, Jeddah
Saudi Arabia
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/joah.joah_34_19
|
|
|
Griscelli syndrome (GS) is a rare autosomal recessive disorder. It features with clinical constellation of skin hypopigmentation, silvery-gray hair, associated with neurological involvement (type I), or defective cell-mediated immunity with hemophagocytosis (type II) that leads to recurrent infection, and patients succumb to death in early childhood or isolated “quiet” GS (type III). To our knowledge, more than sixty patients have been reported mainly from the Mediterranean region with the first reported Saudi cases, reported by Harfi et al. in 1992. The outcome of GS is guarded if not treated early due to recurrent fulminant infections, disease recurrence, and the impending severity of central nervous system disease. Hematopoietic stem cell transplantation (HSCT) is the single current therapeutic treatment for GS II. HSCT, therefore, should be performed as early as possible to prevent potential complications. The reported patient had sustained remission and normal hematopoietic function after allogeneic bone marrow transplant from a human leukocyte antigen-identical sibling donor. GS II syndrome should be considered in any child with hypopigmented skin, silvery-gray hair, and primary immunodeficiency. Early recognition and early HSCT intervention are associated with favorable outcome. |
|
|
|
| [FULL TEXT] [PDF]* |
|
 |
|
