Convulsión

Síndrome de Sturge-Weber: Reporte de un Caso y Revisión de la Literatura. Sturge-Weber Syndrome: A Case Report And Literature Review.

Sturge-Weber Syndrome is a rare developmental neuroectodermical disorder. It is characterized by a facial port-wine stain and a leptomeningeal angiomata, frequently localized ipsilateral to the facial port-wine stain. This syndrome predisposes either to brain atrophy, calcifications and refractory seizures.

In this paper a Sturge-Weber Syndrome literature review was made and a 18 month aged child case with this diagnosis is reported. He was admitted to the emergency department of a local hospital with a history of three days of fever and tonic-clonic seizures localized on the right side and refractory to conventional treatment.

This review highlights the importance of an early diagnosis and an appropriate follow up. To carry out this review a search in PubMed, Science Direct and Scielo databases was done, confirming that there are some issues about this disorder that are still unknown. However, with the GNAQ somatic mutation discovery, there is an open field for new researches. It is very important in medical practice not to understimate a facial port-wine stain over trigeminal territory in newborns in order to make an early diagnosis and try to achieve a better future neurodevelopment.

Leer artículo completo

Palabras clave: angioma, Convulsión, leptomeninges, nevus, Sturge-weber,

Keywords: angiomata, facial stain, leptomeningeal, seizure, Sturge-weber,

Diagnóstico de un paciente con crisis porfírica hepática aguda.

We present a 21 year old woman treated with carbamazepine because of epileptic seizures. She was evaluated at the epilepsy section for possible seizures associated with abdominal pain, psychosis, dysautonomic features and elevated hepatic enzymes. Diagnosis was based on clinical features and biochemical determination of urinary porphobilinogen and absence of fluorescence for porphyrin in blood sample and hepatic tissue. Conclusions: Acute Intermittent Porphyria constitutes a rare cause of symptomatic seizures but the association of seizures with abdominal pain, dysautonomic features, and psychosis suggest the disease and its recognition is very important because it is potentially mortal but suitable to improve with adequate treatment.