AAD
Author: Willhemenia Loremipsum Special session: Lorem ipsum dolor sit amet Category: Lorem ipsum View all results

Please login or create an account. If you do not have access to this content, you will be shown a 30 second preview and licensing options.

  • Presentation

Imaging Guidelines for CM-AVM and Sturge-Weber Syndrome

Description

The presentation discusses imaging guidelines for cerebral arteriovenous malformation (CM-AVM) and Sturge-Weber Syndrome, which share common clinical features such as a capillary stain on the skin and potential catastrophic central nervous system (CNS) complications. Early diagnosis through MRI with contrast is emphasized, although it presents challenges in infants due to the need for anesthesia. The speaker shares cases illustrating the risks of both conditions and the importance of identifying high-risk infants. It is noted that MRI findings can significantly influence prognosis and treatment options. Recent studies indicate certain patterns of skin involvement correlate with a higher risk of CNS complications, particularly in the frontal area. The risks associated with MRI and anesthetic procedures are acknowledged, and the speaker leans towards advocating for screening despite current guidelines suggesting routine checks are not recommended. The talk underscores the necessity of involving parents in decision-making by providing them with comprehensive information about their child’s condition and treatment options. Additionally, the importance of considering long-term monitoring is highlighted, as some vascular anomalies may develop or become symptomatic later in life. Overall, the presentation calls for careful evaluation and discussion of imaging as well as management strategies to optimize outcomes for affected children.

View more

Conclusions

  • Sturge-Weber syndrome is significantly associated with facial port-wine stains, particularly in the forehead region, which raises the risk of CNS involvement.
  • MRI with contrast is necessary for a definitive diagnosis of Sturge-Weber syndrome and associated conditions.
  • Early diagnosis through screening can alter the prognosis of children potentially affected by Sturge-Weber syndrome.
  • The size and location of port-wine stains correlate with the risk of neurological complications in Sturge-Weber syndrome.
  • An MRI should typically be conducted at three months and again at nine months to detect potential CNS anomalies.
  • Anesthesia for MRI in infants carries minimal risk if done correctly, and newer gadolinium agents appear to be safer than older options.
  • Routine screening for brain involvement in infants with high-risk port-wine stains is not recommended; selective imaging may be warranted based on symptoms.
  • There is a significant concern regarding the psychological impact on families when abnormal MRI findings do not lead to actionable treatment options.
  • Certain familial genetic factors, such as RASA-1 mutations, indicate a higher risk of associated arteriovenous malformations (AVMs) in children with capillary malformations.
  • Discussion of risks and benefits with parents is essential for shared decision-making regarding imaging in asymptomatic children.
  • 1. Enjolras O. Facial port-wine stains and Sturge-Weber syndrome. Pediatrics 1985;76:48-51.
  • 2. Tallman B. Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications. Pediatrics 1991;87:7.
  • 3. Piram M, Sturge-Weber syndrome in patients with facial port-wine stain. Pediatr Dermatol 2012;29:32-7.
  • R. Waelchli et al. New vascular classification of port wine stains: improving prediction of Sturge-Weber risk. BJD 2014, Oct;171(4):861-7
  • Dutkiewicz et al. J Am Acad Dermatol. 2015;72:473-80.
  • Malgorzata Dymerska et al. Size matters: Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome. The Journal of Pediatrics.
  • Zallman M et al. Pediatr Dermatol. 2018 Sep;35(5):575-581.
  • Bar C, et al. Dev Med Child Neurol. 2019 May 3.
  • GAS STUDY. MacCann ME et al. Lancet. 2019 Feb 16;393(10172):664-677.
  • PANDA STUDY. Sun LS et al. JAMA. 2016 Jun 7; 315(21): 2312-2320.
  • Revencu N, et al. J Med Genet. 2020 Jan;57(1):48-52.
  • Valdivielso M. Clin Exp Dermatol. 2021 Mar;46(2):300-305.
  • Yeom S, Comi AM. Stroke. 2022 Dec;53(12):3769-3779.
  • Ville D, Seizure. 2002;11:145-150.
  • Triana Junco PE. Pediatr Dermatol. 2019;36:524-527.
  • Sabeti S et al. Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations. Pediatric Neurology 121 (2021) 59e66.
  • Boccara O et al. Central nervous system screening in capillary malformation-arteriovenous malformation syndrome: An observational study. J Am Acad Dermatol. 2022 Oct;87(4):914-916. doi: 10.1016/j.jaad.2021.12.030. Epub 2021 Dec 24.