Autism with port-wine stain syndrome
Подписчиков: 0, рейтинг: 0
| 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. Additional findings include generalized cerebral glucose hypometabolism. It has been described in four un-related children.