Autism with port-wine stain syndrome | |
---|---|
Other names | Autism-facial port-wine stain syndrome |
Specialty | Medical genetics |
Symptoms | Autism, epilepsy and the presence of a port wine stain |
Complications | Epilepsy |
Usual onset | Conception |
Duration | Lifelong |
Causes | Genetic mutation |
Prevention | none |
Prognosis | Good |
Frequency | very 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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