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

1. ↑ "Autism with Port-Wine Stain" (in en). http://www.dovemed.com/diseases-conditions/autism-port-wine-stain/.
2. ↑ "Autism with port-wine stain - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/10303/autism-with-port-wine-stain.
3. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autism facial port wine stain syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137911.
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. https://pubmed.ncbi.nlm.nih.gov/17765807/.

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