PT  - JOURNAL ARTICLE
AU  - Al-Hawsawi, Zakaria M.
AU  - Al-Zaid, Mohamed A.
AU  - Barnawi, Ashwaq I.
AU  - Yassine, Saadeddine M.
TI  - Fanconi anemia associated with moyamoya disease in Saudi Arabia
AID  - 10.15537/smj.2015.2.9978
DP  - 2015 Jan 01
TA  - Saudi Medical Journal
PG  - 233--235
VI  - 36
IP  - 2
4099  - http://smj.org.sa/content/36/2/233.short
4100  - http://smj.org.sa/content/36/2/233.full
SO  - Saudi Med J2015 Jan 01; 36
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.