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

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.

Publikationsverlauf

Eingereicht: 09. Juni 2022

Angenommen: 06. September 2022

Artikel online veröffentlicht:
28. Oktober 2022

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