Facial birthmark and new-onset seizures in infant


The parents of a 3-month-old girl seek medical advice regarding recent seizures and a facial birthmark. What’s the diagnosis?

The Case

The parents of a 3-month-old girl seek medical advice regarding recent seizures and a facial birthmark. The dark pink lesion was noted to cover most of her face at birth. It grew in proportion to the child’s growth and became slightly darker. The infant had a seizure 1 month ago and has experienced 2 more since then.

What’s the diagnosis?

Diagnosis: Sturge-Weber syndrome with a port-wine stain and seizures

Clinical findings

Physical examination revealed a sharply demarcated dark pink blanching patch covering entire right side of face and left cheek. Eye examination revealed dilated blood vessels in right eye. There is no family history of neurocutaneous disorders or seizures.


Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a sporadic congenital neurocutaneous disorder belonging in the phakomatoses group.1,2 It consists of hamartomatous vascular malformations that can affect the skin, eye, and central nervous system.1,3 Typical manifestations include facial port-wine stains (PWS) which represent capillary vascular malformations, ocular-glaucoma, seizures, intellectual disability, and ipsilateral leptomeningeal angioma.1,4 Seizures are the most common neurological symptom and usually manifest in infancy.1 Glaucoma may be congenital or present later in life.1

SWS is caused by a somatic activating mutation in the GNAQ gene located on chromosome 9.4,5 The gene product is a member of the Gαq family, a class of G protein alpha subunits that mediate signals between G-protein-coupled receptors and downstream effectors in different transmembrane signaling pathways.4 The activating GNAQ mutation in SWS increases signal transmission through RAS effector pathways.1 Capillary malformations (PWS) and leptomeningeal angiomatosis associated with SWS, start in the fetal stage and may be caused by the failure of the primitive cephalic venous plexus to regress.1

The prevalence of SWS is around 1 in every 20,000 to 50,000.4 It affects both sexes equally and does not demonstrate a racial predisposition.4 PWS, a congenital capillary malformation, is the predominant dermatological feature and most frequent finding of the disease, and a child born with a PWS has a 6% chance of having SWS.4,5 The risk rises to 26% when the PWS is located in the ophthalmic branch of trigeminal nerve distribution.4 More recent data shows that embryologic patterns that involve the scalp, forehead, nose, and upper cheeks may be a better predictor of SWS symptoms than trigeminal nerve distribution alone.

SWS is classified into three types: type 1 with facial PWS and leptomeningeal angiomatosis, with or without glaucoma; type 2 with facial PWS and no leptomeningeal involvement, with or without glaucoma; and type 3 (least common) with only presence of leptomeningeal angiomatosis and absence of PWS and glaucoma.1

Differential diagnosis

The differential diagnosis for SWS includes Klippel-Trenaunay-Weber’s syndrome, Rendu-Osler-Weber’s Syndrome, Maffuci’s syndrome, and Beckwith-Wiedmann’s syndrome.6 Klippel-Trenaunay-Weber’s syndrome is characterized by a triad of PWS, varicose veins, and bony and soft tissue hypertrophy in extremities.7 Rendu-Osler-Weber’s syndrome, also known as hereditary hemorrhage telangiectasis, is characterized by vascular dysplasia in blood vessels.8 Maffuci’s syndrome presents with asymmetric enchondromas and hemangiomas that manifest as blue subcutaneous nodules.9 Beckwith-Wiedmann’s syndrome is an overgrowth syndrome, and capillary malformations in forehead and upper eyelid presents with a lesion similar to PWS.6

Treatment and management

Standard treatment for SWS includes laser treatment for port-wine stain, anticonvulsants, and medical treatment for glaucoma.1,2 Surgical interventions like glaucoma surgery and procedures for neurological symptoms (e.g., lobectomy, vagal nerve stimulation) may be necessary with time.1 Topical sirolimus is an effective treatment for PWS, while oral sirolimus is a potential treatment for cognitive impairment and epilepsy associated with SWS.10-13 Counseling and physiotherapy is also helpful, while educational therapy is prescribed for children with intellectual disability or developmental delays.1

Patient outcome

The patient’s parents were informed that the child has SWS and that prognosis varies for SWS patients on an individual basis, depending on the degree of leptomeningeal involvement and severity of glaucoma. There is a greater likelihood of intellectual disability with treatment-resistant seizures. Life expectancy is normal. It is recommended that the patient undergoes routine monitoring to evaluate for glaucoma and other symptoms.


1. Higueros, E., Roe, E., Granell, E. & Baselga, E. Sturge-Weber Syndrome: A Review. Actas Dermo-Sifiliográficas (English Edition) 108, 407-417, doi:https://doi.org/10.1016/j.adengl.2017.03.034 (2017).

2. Neerupakam, M., Reddy, P. S., Babu, B. A. & Krishna, G. V. Sturge Weber Syndrome: A Case Study. J Clin Diagn Res 11, ZD12-ZD14, doi:10.7860/JCDR/2017/25593.9891 (2017).

3. Gill, N. C. & Bhaskar, N. Sturge - Weber syndrome: A case report. Contemp Clin Dent 1, 183-185, doi:10.4103/0976-237X.72789 (2010).

4. Shirley, M. D. et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368, 1971-1979, doi:10.1056/NEJMoa1213507 (2013).

5. Hildebrand, M. S. et al. Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome. Neurol Genet 4, e236-e236, doi:10.1212/NXG.0000000000000236 (2018).

6. Neto, F. X. P. et al. Clinical features of Sturge-Weber syndrome. Intl Arch Otorhinolaryngol 12, 565-570 (2008).

7. You, C. K., Rees, J., Gillis, D. A. & Steeves, J. Klippel-Trenaunay syndrome: a review. Can J Surg 26, 399-403 (1983).

8. McDonald, J., Bayrak-Toydemir, P. & Pyeritz, R. E. Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis. Genetics in Medicine 13, 607-616, doi:10.1097/GIM.0b013e3182136d32 (2011).

9. Prokopchuk, O. et al. Maffucci syndrome and neoplasms: a case report and review of the literature. BMC Res Notes 9, 126-126, doi:10.1186/s13104-016-1913-x (2016).

10. Sebold, A. J. et al. Sirolimus Treatment in Sturge-Weber Syndrome. Pediatric Neurology 115, 29-40, doi:https://doi.org/10.1016/j.pediatrneurol.2020.10.013 (2021).

11. Sun, B. et al. Sirolimus as a Potential Treatment for Sturge-Weber Syndrome. J Craniofac Surg 32, 257-260, doi:10.1097/scs.0000000000007034 (2021).

12. Lipner, S. R. Topical Adjuncts to Pulsed Dye Laser for Treatment of Port Wine Stains: Review of the Literature. Dermatol Surg 44, 796-802, doi:10.1097/dss.0000000000001507 (2018).

13. Marqués, L. et al. Topical rapamycin combined with pulsed dye laser in the treatment of capillary vascular malformations in Sturge-Weber syndrome: phase II, randomized, double-blind, intraindividual placebo-controlled clinical trial. J Am Acad Dermatol 72, 151-158.e151, doi:10.1016/j.jaad.2014.10.011 (2015).

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