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Título

Sturge Weber Syndrome Type 3: A challenging diagnosis.

RESUMO

Case Presentation: 19 years-old female with obesity, hypothyroidism, insulin resistance, and precocious puberty presented, when at age of 5 years-old, a first episode of self-limited left hemiparesis following a new-onset headache. At the same age, she presented the first episode of seizure. Since then, she has persisted with a chronic headache. Evaluation with brain MRI showed extensive right parenchymal calcification and venous-capillary angioma with ependymal drainage. Although the patient has had typical radiological findings for Sturge-Weber Syndrome (SWS), she imposed a diagnosis challenge since she did not have the typical cutaneous port-wine nevus. Annual follow-up MRI demonstrated progression of cortical calcifications and increasing venous stasis due to venous-capillary malformation. Despite progression, the patient maintains clinical and neurological stability. Discussion: Sturge–Weber syndrome is a neurocutaneous syndrome characterized by a facial port-wine birthmark (capillary malformation) with abnormal blood vessels in the brain and the eye. It is a sporadic developmental disorder caused by somatic mosaic mutations in the GNAQ gene. This syndrome is the third most common neurocutaneous disorder after neurofibromatosis (NF) and tuberous sclerosis complex (TSC), but it is not associated with a greatly increased risk of tumors. SWS exists as a spectrum ranging from the isolated brain involvement seen in about 10% of the cases, classified as type 3 SWS, to facial birthmark associated with brain and eye involvement, type 1. Seizure is usually the first neurological manifestation in the first or two years of life. Diagnosis of Sturge-Weber syndrome is based on typical clinical symptoms and brain magnetic resonance imaging (MRI) findings characterized by enhancing dilated leptomeningeal vessels associated with enlarged deep draining vessels and a choroid plexus glomus. Conclusion: This case exemplifies the challenge of neurological diagnosis of SWS in the absence of port-wine stain facial angioma. In a patient with typical symptoms such as focal seizure, cognitive impairment, and metabolic disturbance presenting with radiological findings, SWS type 3 should always be considered as a possibility.

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Área

Doença Cerebrovascular