Sturge-Weber syndrome — Viva

Stimulus

A clinical photograph shows a 6-week-old infant with a unilateral flat red birthmark involving the forehead and upper and lower eyelids. The infant is developing normally and has had no seizures.[2][5]

Q1 — Identify and frame the syndrome

Examiner: What is the lesion, and does this infant already have Sturge-Weber syndrome?[2][5]

Model answer: It is a port-wine birthmark (PWB), a congenital capillary malformation. This infant's forehead distribution raises neurological SWS concern; any upper- or lower-eyelid/periocular involvement raises glaucoma concern. The stain alone does not establish SWS. SWS is phenotypically variable: brain or ocular disease may occur with an incomplete classic triad, and intracranial disease can occur without a visible PWB.[2][5][6]

Branch if the candidate says “V1”: Ask, “Is trigeminal V1 the best modern risk model?”[5][7]

Expected: No. Forehead, median, hemifacial and extensive segmental distribution reflect embryologic vascular territory more accurately. Any eyelid/periocular PWB matters for glaucoma, including lower-eyelid involvement.[2][7]

Q2 — Decide what happens now

Examiner: What referrals and investigations do you arrange today?[2]

Model answer: Any eyelid/periocular PWB prompts baseline paediatric ophthalmology, while this infant's forehead PWB prompts paediatric neurology review; arrange periodic individualized follow-up. Document PWB distribution, development, motor symmetry and visual behaviour, and teach the caregivers seizure recognition.[2][5]

Branch A — infant remains asymptomatic: Ask, “Does the forehead PWB mandate contrast MRI?”[2][8]

Expected: No. The 2021 consensus does not recommend routine screening MRI for every asymptomatic high-risk infant. MRI is a specialist-led shared decision for selected cases such as subtle symptoms, extensive/bilateral PWB or a presymptomatic-treatment discussion. Early MRI may be falsely negative and can falsely reassure.[2][8][9]

Branch B — subtle focal twitch, developmental asymmetry or seizure appears: Ask, “What changes?”[2]

Expected: Neurological symptoms prompt optimized MRI before and after contrast, including SWI and appropriate vascular/parenchymal sequences. CT is not routine first line in a child, although it can show gyriform calcification.[2][10]

Q3 — Use EEG correctly

Examiner: Can a normal EEG or normal early MRI exclude SWS brain involvement?[2][9][11]

Model answer: No. EEG evaluates suspected or known seizures; baseline or quantitative EEG may show asymmetry, but it is neither diagnostic nor a rule-out test. Early MRI has reported retrospective false-negative rates of 3–23%. Continue clinical surveillance despite a normal test.[2][9][11]

Branch if the candidate asks for serial MRI: Stable established SWS does not require routine repeat neuroimaging; new or progressive symptoms and presurgical planning are indications.[2]

Q4 — Manage an acute seizure branch

Examiner: At 8 months, the child has a prolonged focal-to-bilateral convulsive seizure. Give your immediate priorities.[13]

Model answer: Use the age-appropriate status pathway: ABC, oxygen if needed, bedside glucose, prompt rescue benzodiazepine, second-line antiseizure medication per local protocol, and anaesthesia/PICU escalation if refractory. Correct fever/dehydration, avoid hypotension and do not delay seizure treatment for imaging.[13]

Branch A — the child recovers promptly: Perform neurological reassessment and arrange symptom-driven SWS MRI/epilepsy care.[2]

Branch B — weakness persists or recovery is atypical: Urgently reassess and image a persistent deficit or prolonged non-resolving stroke-like episode. A deficit from a unilateral cerebral lesion is usually contralateral, and transient peri-ictal MRI changes can occur.[2][4]

Branch C — seizures remain drug-resistant: Refer early to a specialist paediatric epilepsy-surgery centre; selected unilateral disease may be treated with hemispherotomy/hemispherectomy or posterior resection based on extent and function.[2]

Q5 — Handle the eye branch

Examiner: The cornea becomes enlarged and cloudy. What is your interpretation and next step?[2][6]

Model answer: Suspect infantile glaucoma and arrange urgent paediatric ophthalmology assessment. Early-onset SWS glaucoma frequently requires surgery because angle dysgenesis contributes. Later-onset glaucoma may begin with pressure-lowering medication, followed by individualized angle, filtering or drainage-device surgery. Follow-up is lifelong because glaucoma can present late.[2][6]

Branch if fundus examination shows diffuse choroidal haemangioma: Assess amblyopia, refraction, field and serous retinal detachment risk with retina expertise; management is complication-led.[2]

Q6 — Counsel about skin treatment

Examiner: The parents ask whether the birthmark disappears and whether laser cures it.[3][5]

Model answer: PWB persists and may darken or thicken. PDL is first-line for lightening, generally needs multiple sessions and does not guarantee complete durable clearance. Earlier treatment may improve feasibility and lightening, but has not been proved to prevent hypertrophy. Anaesthesia is individualized; selected infants can be treated without general anaesthesia.[3][5][17]

Branch if the family declines laser: Respect shared decision-making, provide sun/skin care and psychosocial support, and separate optional appearance treatment from essential eye and neurological surveillance.[3]

Q7 — Defend the aspirin answer

Examiner: Should every presymptomatic infant receive aspirin and antiseizure medication?[14][15]

Model answer: No. Presymptomatic aspirin with or without antiseizure medication remains a specialist, off-label approach based on very small retrospective cohorts, not randomized or prospective proof. Low-dose aspirin 3–5 mg/kg/day has also been used for SWS brain involvement in retrospective practice; discuss bruising/bleeding and local paediatric viral-illness precautions. Neither approach is a universal preventive standard.[14][15]

Branch if the candidate says “aspirin prevents stroke”: Ask them to correct the statement. The defensible wording is that some centres use it hoping to reduce stroke-like events or neurological deterioration; efficacy remains uncertain.[4][15]

Q8 — Genetics and closing traps

Examiner: Explain the genetics and give four candidate traps.[1][16]

Model answer: Most cases reflect a post-zygotic mosaic activating GNAQ p.Arg183Gln variant in affected tissue; rare mosaic GNA11 variants overlap. Blood can be negative because variant burden is tissue-dependent. Typical SWS is not Mendelian; sibling recurrence is expected to be extremely low rather than mathematically zero.[1][16]

Four traps:[2][5]

1. Calling PWB an infantile haemangioma and waiting for involution.
2. Treating “V1” as proof of SWS or as an automatic contrast-MRI order.
3. Excluding brain involvement after a normal early MRI or EEG.
4. Presenting topical therapy as universal first-line glaucoma care or aspirin as proven prevention.[2][5]

References16Show ledgerHide ledger

1. [1]Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med, 2013.PMID 23656586
2. [2]Sabeti S, Ball KL, Bhattacharya SK, et al. Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations. Pediatr Neurol, 2021.PMID 34153815
3. [3]Sabeti S, Ball KL, Burkhart C, et al. Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome. JAMA Dermatol, 2021.PMID 33175124
4. [4]Yeom S, Comi AM. Updates on Sturge-Weber Syndrome. Stroke, 2022.PMID 36263782
5. [5]Poliner A, Fernandez Faith E, Blieden L, et al. Port-wine Birthmarks: Update on Diagnosis, Risk Assessment for Sturge-Weber Syndrome, and Management. Pediatr Rev, 2022.PMID 36045161
6. [6]Ramirez EL, Jülich K. Sturge-Weber syndrome: an overview of history, genetics, clinical manifestations, and management. Semin Pediatr Neurol, 2024.PMID 39389653
7. [7]Waelchli R, Aylett SE, Robinson K, et al. New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk. Br J Dermatol, 2014.PMID 24976116
8. [8]Zallmann M, Leventer RJ, Mackay MT, et al. Screening for Sturge-Weber syndrome: A state-of-the-art review. Pediatr Dermatol, 2018.PMID 29034507
9. [9]Zallmann M, Mackay MT, Leventer RJ, et al. Retrospective review of screening for Sturge-Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants with high-risk port-wine stains. Pediatr Dermatol, 2018.PMID 30020536
10. [10]Hu J, Yu Y, Juhasz C, et al. MR susceptibility weighted imaging (SWI) complements conventional contrast enhanced T1 weighted MRI in characterizing brain abnormalities of Sturge-Weber Syndrome. J Magn Reson Imaging, 2008.PMID 18666142
11. [11]Ewen JB, Kossoff EH, Crone NE, et al. Use of quantitative EEG in infants with port-wine birthmark to assess for Sturge-Weber brain involvement. Clin Neurophysiol, 2009.PMID 19589723
12. [13]Glauser T, Shinnar S, Gloss D, et al. Evidence-Based Guideline: Treatment of Convulsive Status Epilepticus in Children and Adults: Report of the Guideline Committee of the American Epilepsy Society. Epilepsy Curr, 2016.PMID 26900382
13. [14]Day AM, Hammill AM, Juhász C, et al. Hypothesis: Presymptomatic treatment of Sturge-Weber Syndrome With Aspirin and Antiepileptic Drugs May Delay Seizure Onset. Pediatr Neurol, 2019.PMID 30482419
14. [15]Lance EI, Sreenivasan AK, Zabel TA, et al. Aspirin use in Sturge-Weber syndrome: side effects and clinical outcomes. J Child Neurol, 2013.PMID 23112247
15. [16]Polubothu S, Al-Olabi L, Carmen Del Boente M, et al. GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G(α/11) Mosaicism and the Associated Clinical Diagnoses. J Invest Dermatol, 2020.PMID 31838126
16. [17]Jeon H, Bernstein LJ, Belkin DA, et al. Pulsed Dye Laser Treatment of Port-Wine Stains in Infancy Without the Need for General Anesthesia. JAMA Dermatol, 2019.PMID 30865245