Subscribe to RSS
DOI: 10.1055/s-0042-1757917
Type III Sturge Weber Syndrome, An Uncommon Cause of Status Epilepticus
![](https://www.thieme-connect.de/media/10.1055-s-00029025/202303/lookinside/thumbnails/10-1055-s-0042-1757917_2200018-1.jpg)
Abstract
Introduction Sturge Weber syndrome (SWS) is a rare neurocutaneous condition due to the mutation of the GNAQ gen. This condition is characterized by skin, eye, and brain compromise, but the type III only affects the brain, making it a challenging condition to diagnose.
Clinical Case A Hispanic 4 year-old female, with a history of complex febrile seizure in her medical records, presented to the emergency room in status epilepticus after 24 hours of upper respiratory symptoms. After a neurological and radiologic evaluation, SWS III was diagnosed, which led to a pharmacological adjustment for achieving control of the seizures, with a great clinical evolution.
Discussion The pathophysiology, diagnostics, and proper management of this disease are discussed.
Conclusion SWS is a rare neurocutaneous disease, usually diagnosed in patients with pathognomonic features, however it is important to know that type III SWS exists and represents a challenging diagnosis, leading to a time-race for starting proper management, considering that the outcome includes a better life-quality, a higher cognitive result, and reduced morbimortality.
Ethical Approval
Informed consent was obtained from the patient's parents for publication of the case report and accompanying images. The present publication was also approved by the local ethics committee.
Publication History
Received: 09 June 2022
Accepted: 06 September 2022
Article published online:
28 October 2022
© 2022. Thieme. All rights reserved.
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
-
References
- 1 Arkush L, Prabhakar P, Scott RC, Aylett SE. Headache in children with Sturge-Weber syndrome – prevalence, associations and impact. Eur J Paediatr Neurol 2020; 27: 43-48
- 2 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; 368 (21) 1971-1979
- 3 Higueros E, Roe E, Granell E, Baselga E. Síndrome de Sturge-Weber: revisión. Actas Dermosifiliogr 2017; 108 (05) 407-417
- 4 Luat AF, Juhász C, Loeb JA. et al. Neurological complications of Sturge-Weber syndrome: current status and unmet needs. Pediatr Neurol 2019; 98: 31-38
- 5 Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA. New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk. Br J Dermatol 2014; 171 (04) 861-867
- 6 Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am 1992; 39 (04) 591-620
- 7 Zanzmera P, Patel T, Shah V. Diagnostic dilemma: Sturge-Weber syndrome, without facial nevus. J Neurosci Rural Pract 2015; 6 (01) 105-107
- 8 Mukherjee D, Kundu R, Niyogi PC. Sturge-Weber syndrome type III. Indian J Pediatr 2015; 82 (01) 97-98
- 9 Jordan PR, Iqbal M, Prasad M. Sturge-Weber syndrome type 3 manifesting as ‘Status migrainosus’. BMJ Case Rep 2016; 2016: bcr2016216842
- 10 Gururaj AK, Sztriha L, Johansen J, Nork M, Aithala G. Sturge-Weber syndrome without facial nevus: a case report and review of the literature. Acta Paediatr 2000; 89 (06) 740-743
- 11 Martínez-Bermejo A, Tendero A, López-Martín V. et al. Angiomatosis leptomeníngea occipital sin angioma facial. Debe considerarse como variante del síndrome de Sturge-Weber?. Rev Neurol 2000; 30 (09) 837-841
- 12 Comi AM. Sturge-Weber syndrome. Handb Clin Neurol 2015; 132: 157-168
- 13 Ha A, Kim JS, Baek SU. et al. Facial Port-Wine Stain phenotypes associated with glaucoma risk in neonates. Am J Ophthalmol 2020; 220: 183-190
- 14 Lagarde S, Bartolomei F. Focal Epilepsies and Focal Disorders. 2019: 17-43
- 15 Goyal P, Mangla R, Gupta S. et al. Pediatric congenital cerebrovascular anomalies. J Neuroimaging 2019; 29 (02) 165-181
- 16 Iyer RR, Strahle JM, Groves ML. Neurosurgical considerations of neurocutaneous syndromes. Neurosurg Clin N Am 2022; 33 (01) 81-89
- 17 Bianchi F, Auricchio AM, Battaglia DI, Chieffo DRP, Massimi L. Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons. Childs Nerv Syst 2020; 36 (10) 2553-2570
- 18 Stafstrom CE, Staedtke V, Comi AM. Epilepsy mechanisms in neurocutaneous disorders: tuberous sclerosis complex, neurofibromatosis type 1, and Sturge-Weber syndrome. Front Neurol 2017; 8: 87
- 19 Powell S, Fosi T, Sloneem J, Hawkins C, Richardson H, Aylett S. Neurological presentations and cognitive outcome in Sturge-Weber syndrome. Eur J Paediatr Neurol 2021; 34: 21-32
- 20 Bourgeois M, Crimmins DW, de Oliveira RS. et al. Surgical treatment of epilepsy in Sturge-Weber syndrome in children. J Neurosurg 2007; 106 (Suppl. 01) 20-28