pediatric health network - congenital vascular syndromes ......• pediatric ophthalmology...
TRANSCRIPT
![Page 1: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/1.jpg)
Congenital vascular syndromes: diagnostic role of a multidisciplinary clinicKalyani Marathe, MD, MPH
![Page 2: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/2.jpg)
I have no conflicts of interest or relevant financial relationships to discuss.
2
![Page 3: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/3.jpg)
At the end of this talk, audience members should be able to:
‐ Identify PHACE and Sturge‐Weber syndrome based on their clinical characteristics‐ Recognize associated features‐ Initiate an appropriate workup
3
Objectives
![Page 4: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/4.jpg)
Case 1
• A 2‐week‐old girl presents to clinic with the following lesion:
• What are the most important components of a workup?
Photo, Bolognia 3rd ed.c
![Page 5: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/5.jpg)
Case 2
• A 2‐week‐old girl presents to clinic with the following lesion:
• What are the most important components of a workup?
Photo courtesy of A. Yasmine Kirkorian MD
![Page 6: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/6.jpg)
Case 3
• A 2‐week‐old girl presents to clinic with the following lesion:
• What are the most important components of a workup?
Photo courtesy of A. Yasmine Kirkorian MD
![Page 7: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/7.jpg)
ISSVA
• International Society for the Study of Vascular Anomalies
• Organizes biennial workshops• Classification scheme
– Vascular malformations• Capillary malformations• Venous malformations• Lymphatic malformations• Arteriovenous malformations
– Hemangiomas
![Page 8: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/8.jpg)
![Page 9: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/9.jpg)
Sturge Weber Syndrome
• Syndromic capillary malformation with CNS and/or ocular abnormalities
• Unilateral facial CM; usually involves forehead and upper eyelid, may be bilateral
![Page 10: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/10.jpg)
Sturge Weber Syndrome
• Syndromic capillary malformation with CNS and/or ocular abnormalities
• Unilateral facial CM; usually involves forehead and upper eyelid, may be bilateral
• If both upper and mid face involved, ocular involvement more likely– Congenital glaucoma– Choroidal vascular malformation
![Page 11: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/11.jpg)
Sturge Weber Syndrome • Syndromic capillary malformation with CNS and/or ocular
abnormalities• Unilateral facial CM; usually involves forehead and upper
eyelid, may be bilateral• If both upper and mid face involved, ocular involvement
more likely– Congenital glaucoma– Choroidal vascular malformation
• CNS involvement: due to leptomeningeal vascular malformations– Seizures (typically develop in first year of life)– Less commonly, hemiparesis/hemiplegia, developmental delays,
emotional/behavioral
![Page 12: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/12.jpg)
Workup for Sturge‐Weber Syndrome
• Pediatric Ophthalmology evaluation at birth– Follow up regularly, as glaucoma may not become evident until childhood
• Pediatric Neurology referral– MRI if symptomatic
![Page 13: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/13.jpg)
ISSVA Classification
![Page 14: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/14.jpg)
Case 2
• A 2‐week‐old girl presents to clinic with the following lesion:
• What are the most important components of a workup?
![Page 15: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/15.jpg)
PHACE(S) Syndrome
• Posterior fossa malformations• Hemangioma (segmental)• Arterial anomalies• Cardiac anomalies/Coarctation of aorta• Eye anomalies• (Supraumbilical raphe/Sternal clefting)
![Page 16: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/16.jpg)
PHACE(S) Syndrome
• Posterior fossa malformations– Dandy‐Walker malformation
• Hemangioma (segmental)• Arterial anomalies
– Head and neck: stenosis, tortuosity, aberrance• Cardiac anomalies/Coarctation of aorta
– PDA, ASD, VSD, Tetralogy of Fallot• Eye anomalies
– Horner syndrome, retinal vascular anomalies• (Supraumbilical raphe/Sternal clefting)
– Ventral midline developmental defects
![Page 17: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/17.jpg)
Workup for PHACE
• Neuroimaging– MRI/MRA with TRICKS protocol
• Echocardiogram• Ophthalmologic evaluation
![Page 18: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/18.jpg)
![Page 19: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/19.jpg)
Photo courtesy of A. Yasmine Kirkorian, MD
![Page 20: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/20.jpg)
LUMBAR syndrome
• Lower body congenital infantile hemangiomasand other skin defects
• Urogenital anomalies and ulceration• Myelopathy • Bony deformities• Anorectal malformations/Arterial anomalies• Rectal anomalies
![Page 21: Pediatric Health Network - Congenital vascular syndromes ......• Pediatric Ophthalmology evaluation at birth – Follow up regularly, as glaucoma may not become evident until childhood](https://reader036.vdocument.in/reader036/viewer/2022070213/610ca1be4174e923811281b7/html5/thumbnails/21.jpg)
Workup for LUMBAR
• At < 3 months– Spinal ultrasound – Ultrasound with doppler‐ abdomen and pelvis
• 3‐6 months– If midline lesion or abnormal ultrasound, MRI of spine
– If abnormal pelvic/renal ultrasound, urologic evaluation
– Monitor for limb length discrepancy with Orthopedics