Fetal subependymal giant cell astrocytoma: A case report and review of the literature

Abstract

Background: Subependymal giant cell astrocytomas (SEGAs) appear approximately in 10% of patients with tuberous sclerosis. These tumors are most commonly diagnosed in childhood and adolescence, with in utero diagnosed SEGAs being an extremely rare entity. Case Description: We present the case of a congenital SEGA detected in an antenatal ultrasound and further investigated with fetal magnetic resonance imaging (MRI) scans at 22 and 32 weeks of gestational age. At 9 days of age, the child underwent craniotomy and partial excision of the tumor, followed by a second more extensive operation 13 days later. The patient was subsequently administered mammalian target of rapamycin inhibitor (everolimus). Conclusion: In the latest follow-up MRI, at the age of two, the SEGA remained unchanged. Management of these tumors in neonates is challenging, mainly due to high morbidity and mortality of surgical treatment in these ages.

Neuroimaging in tuberous sclerosis complex

“…Prenatal MRI is indicated in case of positive familial history or in case of TSC suggestive features at foetal US. These US features are mainly represented by cardiac rhabdomyomas; however, CTs and SENs can also be detected since early gestational period [61], while congenital SEGAs in newborns and foetuses are very rare [62].…”

“…The moving foetus can affect the duration of this fast protocol, however maternal or foetal sedation are usually not required [64]. SENs and CTs are typically hypointense on T2w and hyperintense on T1w, with CTs less visible sand inconstantly detected on foetal brain MRI; a large mass filling the ventricle with associated ipsiand/or contra-lateral ventriculomegaly is suggestive of SEGA, but further investigation with gadolinium-based contrast media is not approved during pregnancy and must be postponed after birth [62]. In addition, advanced techniques such as foetal DTI and spectroscopy have also been applied for research purposes, as they may represent potential early markers of white matter abnormalities even before conventional imaging; however, at present, their clinical application is limited by the long acquisition times [30].…”