Medicine:Autism with port-wine stain syndrome

From HandWiki
Autism with port-wine stain syndrome
Other namesAutism-facial port-wine stain syndrome
SpecialtyMedical genetics
SymptomsAutism, epilepsy and the presence of a port wine stain
ComplicationsEpilepsy
Usual onsetConception
DurationLifelong
CausesGenetic mutation
Preventionnone
PrognosisGood
Frequencyvery rare, only 4 cases have been described in medical literature
Deaths-

Autism with port-wine stain syndrome is a very rare genetic disorder which is characterized by the unilateral presence of a port-wine stain, autism/autistic-like behaviour that is associated with social awkwardness, developmental delays, and language/speech delay, and epilepsy.[1][2][3] Additional findings include generalized cerebral glucose hypometabolism. It has been described in four un-related children.[4]

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