RT Journal Article
SR Electronic
T1 Fanconi anemia associated with moyamoya disease in Saudi Arabia
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 233
OP 235
DO 10.15537/smj.2015.2.9978
VO 36
IS 2
A1 Zakaria M. Al-Hawsawi
A1 Mohamed A. Al-Zaid
A1 Ashwaq I. Barnawi
A1 Saadeddine M. Yassine
YR 2015
UL http://smj.org.sa/content/36/2/233.abstract
AB We report a 10-year-old Saudi girl who has Fanconi anemia (FA) and was admitted due to acute hemiplegia, of the right side. She had a previous attack of left side hemiplegia that resolved spontaneously. The brain magnetic resonance angiography showed a cerebrovascular pattern of moyamoya disease. She underwent partially matched related donor stem cell transplantation (SCT), but unfortunately died 3 months later with post SCT complications. The association of moyamoya disease with FA is uncommon, and is rarely reported in the literature. Although this condition may be acquired, it is considered a truly congenital defect in FA, and to identify the etiology of this association furthermore genetic mutation analysis is needed.