Síndrome de Sturge Weber: reporte de un caso y revisión de la literatura / Sturge-Weber syndrome: a case report and review of the literature

Introdución: El síndrome de Sturge-Weber (SSW) es una entidad neurocutánea congénita caracterizada por una malformación vascular facial (mancha en vino de Oporto) asociado a angiomatosis leptomeníngea. Su prevalencia es aproximadamente de uno por cada 50 000 nacidos vivos. Afecta por igual a ambos sexos. Las manifestaciones clínicas incluyen a las convulsiones, nevus vascular cutáneo unilateral en relación a la división oftálmica del nervio trigémino, glaucoma ipsilateral, hemiparesia contralateral, hemiatrofia, hemianopia y retraso psicomotor. La característica radiológica es la presencia de calcificaciones giriformes en los lóbulos occipital y parietal. Reporte de caso: Una paciente de 1 año 7 meses llegó a la emergencia presentando convulsiones generalizadas que cesaron con diazepan, y se inició tratamiento con ácido valproico. Mostraba una mancha congénita color vino de Oporto en la frente, además se evidenció un leve retraso psicomotor. La tomografia mostró una calcificación cortical en los lóbulos parietal y occipital izquierdos. En la resonancia magnética se evidenció un reforzamientoleptomeníngeo parietal izquierdo. Conclusiones: El SSW es una entidad rara y de curso progresivo, el diagnóstico no es difícil cuando las manifestaciones típicas están presentes. Una malformación cutánea facial y la presencia de retardo mental debería alertar a los médicos cuando se encuentran frente a niños con convulsiones focales o parciales complejas secundariamente generalizadas en el primer o segundo año de vida.

Introduction: Sturge- Weber syndrome (SWS) is a congenital neurocutaneous syndrome characterized by unilateral facial cutaneous vascular malformation (Port-wine stain) in association with ipsilateral leptomeningeal angiomatosis. Prevalence is approximately one per 50 000 live births. Males and females are equally affected. Clinical manifestations include seizures, unilateral cutaneous vascular nevus following the ophthalmic divisions of the trigeminal nerve, ipsilateral glaucoma, contralateral hemiparesis, hemiatrophy, hemianopia and psychomotor retardation. The radiographic hallmarks of SWS are gyriform calcifications usually involving the occipital and parietal lobes. Case report: A 1 year and 7 month-old girl carne to emergence department showing generalized seizures that resolved with diazepam and valproic acid was started. She had a facial Port-wine birthmark located on the forehead; a mild psychomotor retardation was evidenced. Head CT demonstrated a cortical calcification of the left parietal and occipital lobe. MRI showed a left parietal leptomeningeal enhancement. Conclusions: SWS is a rare and progressive entity, the diagnosis is not hard when typical manifestations are present. Mental retardation and facial cutaneous malfonnations should alert physician when they are in front of infants with focal or complex partial/secondarily generalized seizures in the first or second year of life.

Analysis of 57 children with benign infantile seizures / 实用儿科临床杂志

Objective To detect the characteristics of benign infantile seizures.Methods Fifty seven cases of benign infantile seizures were analyzed.Results All patients had a normal development before and after the onset of the seizures.The age of onset was from 1.5-30 months.The main manifestations included tonic clonic seizure,staring and motion arrest,64.9 % occurred in clusters.A family history of epilepsy or febrile seizures was present in 6 cases.Interictel electroen cephalograms were normal.The seizures were easily ceased after taking phenobarbital,carbamazepine or valproate.Antiepileptic drugs(AEDs)were discontinued in 51 patients.The mean ages of seizure stopping were 12.8 months and mean seizure′s durations were 4.1 months.Conclusion The benign infantile seizures can be easily controlled with a single AEDs for short time with favorable prognosis.