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]
| 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 | - |
References
edit- ^ "Autism with Port-Wine Stain". DoveMed. Retrieved 2022-06-07.
- ^ "Autism with port-wine stain - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-07.
- ^ 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) - ^ 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.