Autism with port-wine stain syndrome

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Medical condition

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]

## References

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1. ^ "Autism with Port-Wine Stain". DoveMed. Retrieved 2022-06-07.
2. ^ "Autism with port-wine stain - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-07.
3. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autism facial port wine stain syndrome". www.orpha.net. Retrieved 2022-06-07.`{{cite web}}`: CS1 maint: numeric names: authors list (link)
4. ^ Chugani, Harry T.; Juhász, Csaba; Behen, Michael E.; Ondersma, Ross; Muzik, Otto (September 2007). "Autism with facial port-wine stain: a new syndrome?". Pediatric Neurology. 37 (3): 192–199\. doi:10.1016/j.pediatrneurol.2007.05.005. ISSN 0887-8994. PMID 17765807.192-199&rft.date=2007-09&rft.issn=0887-8994&rft_id=info:pmid/17765807&rft_id=info:doi/10.1016/j.pediatrneurol.2007.05.005&rft.aulast=Chugani&rft.aufirst=Harry+T.&rft.au=Juhász,+Csaba&rft.au=Behen,+Michael+E.&rft.au=Ondersma,+Ross&rft.au=Muzik,+Otto&rft_id=https://pubmed.ncbi.nlm.nih.gov/17765807/&rfr_id=info:sid/en.wikipedia.org:Autism+with+port-wine+stain+syndrome" class="Z3988">