Autism with port-wine stain syndrome

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". 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.
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.