RT Journal Article
SR Electronic
T1 Fucosidosis and anesthesia
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 1446
OP 1448
VO 28
IS 9
A1 Soltani, Alireza E.
A1 Moharari, Reza S.
A1 Ghaffari, Reza
A1 Zahedi, Hamid
A1 Hajmahmoodi, Mojgan
YR 2007
UL http://smj.org.sa/content/28/9/1446.abstract
AB Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of a-L-fucosidase. Patients usually have some problems with glycoprotein storage in the brain and other organs, and some structural abnormalities that need special consideration in anesthesia. It has 2 types, the early onset or infantile, and the juvenile. Here we present an 8-year old girl with deformities in the maxillofacial region, with big tongue, small and retracted chin, saddle nose, and short neck that could not be extended, causing difficult intubation, and congenital cardiac problems requiring a special anesthetic strategy.