Download PDF
Journal of Pediatric Epilepsy 2023; 12(03): 103-108
DOI: 10.1055/s-0042-1757917
Case Report

Type III Sturge Weber Syndrome, An Uncommon Cause of Status Epilepticus

Juan Pablo Coronado-Lopez 
1   Faculty of Medicine, Pediatrics Department, Pontificia Universidad Javeriana, Cali, Colombia
,
Juan Felipe Coronado 
2   Faculty of Medicine, Genetics Group, Universidad de La Sabana, Chia, Colombia
,
Jose Fernando Gomez-Urrego 
3   Pediatrics Department, Universidad de Caldas 2, Pontificia Universidad Javeriana, Cali, Colombia
,
Richard Londono-Chavez 
4   Pediatrics Neurosurgery Department, Universidad Militar Nueva Granada, Bogota, Colombia
› Author Affiliations
› Further Information
   Permissions and Reprints

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.

Keywords

Sturge-Weber syndrome - febrile seizure - neurosurgery

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
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 3 Higueros E, Roe E, Granell E, Baselga E. Síndrome de Sturge-Weber: revisión. Actas Dermosifiliogr 2017; 108 (05) 407-417
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 6 Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am 1992; 39 (04) 591-620
    CrossrefPubMedGoogle Scholar
  • 7 Zanzmera P, Patel T, Shah V. Diagnostic dilemma: Sturge-Weber syndrome, without facial nevus. J Neurosci Rural Pract 2015; 6 (01) 105-107
    Article in Thieme ConnectPubMedGoogle Scholar
  • 8 Mukherjee D, Kundu R, Niyogi PC. Sturge-Weber syndrome type III. Indian J Pediatr 2015; 82 (01) 97-98
    CrossrefPubMedGoogle Scholar
  • 9 Jordan PR, Iqbal M, Prasad M. Sturge-Weber syndrome type 3 manifesting as ‘Status migrainosus’. BMJ Case Rep 2016; 2016: bcr2016216842
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    PubMedGoogle Scholar
  • 12 Comi AM. Sturge-Weber syndrome. Handb Clin Neurol 2015; 132: 157-168
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 14 Lagarde S, Bartolomei F. Focal Epilepsies and Focal Disorders. 2019: 17-43
    Google Scholar
  • 15 Goyal P, Mangla R, Gupta S. et al. Pediatric congenital cerebrovascular anomalies. J Neuroimaging 2019; 29 (02) 165-181
    CrossrefPubMedGoogle Scholar
  • 16 Iyer RR, Strahle JM, Groves ML. Neurosurgical considerations of neurocutaneous syndromes. Neurosurg Clin N Am 2022; 33 (01) 81-89
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    PubMedGoogle Scholar