Prenatal sonographic diagnosis of tuberous sclerosis complex

Abstract

We report the case of a male fetus with tuberous sclerosis complex (TSC), in whom multiple cardiac rhabdomyomas and renal angiomyolipomas were detected at 33 weeks by ultrasound with additional brain lesions detected on MRI, all confirmed after birth. DNA analysis of the TSC2 gene detected a de novo mutation in the TSC2 gene. Postnatal follow-up and neurological examination were normal, as were the results of Holter monitoring.

Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex

“…There are a handful of reports of infants with severe renal disease. Only four prior articles report prenatal renal findings [9]. Our case is notable for the presence of this rare finding, which, along with the finding of multiple rhabdomyomas, confirmed the diagnosis of TSC.…”

Esclerosis tuberosa, diagnóstico fetal y materno

“…El diagnóstico prenatal se basa generalmente en hallazgos de tumores cardíacos múltiples (12). Series de casos reportados en la literatura han mostrado que ante la evidencia de rabdomiomas cardiacos, hasta un 88% de los fetos pueden presentar diagnóstico ET, a su vez, aproximadamente en el 30% los fetos con ET tendrán rabdomiomas (6).…”

“…El diagnóstico prenatal de ET se basa principalmente en la observación de tumores cardíacos múltiples (5), hasta un 88% de los fetos con rabdomiomas tienen la enfermedad (6). Otro órgano afectado con frecuencia por la ET en el feto es el cerebro, los hallazgos sugestivos son tubérculos corticales y/o nódulos sub ependimarios.…”

Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis

“…A definite clinical diagnosis of TSC can be made in the presence of two major features, but identification of either a TSC1 or TSC2 pathogenic mutation is sufficient to make a definite diagnosis too [8] . Cardiac rhabdomyomas, cortical tubers, subependymal nodules, and renal angiomyolipomas may be detected by prenatal imaging allowing an early diagnosis [9] , [10] . Today, TSC can be diagnosed prenatally, or early postnatally in a growing number of patients [11] , and all the diagnosed infants should be considered at a high risk of developing early onset seizures [12] .…”