Giant intraventricular and paraventricular cavernous malformations with multifocal subependymal cavernous malformations in pediatric patients: Two case reports

BACKGROUND Giant cavernous malformation(GCM)is rarely found in intraventricular or paraventricular locations.CASE SUMMARY We present two cases of 6-mo and 21-mo boys with intraventricular and paraventricular GCMs including a literature review focused on location and imaging findings.Characteristic magnetic resonance imaging findings such as multicystic lesions and a hemosiderin ring or bubbles-of-blood appearance can assist in the differential diagnosis of a hemorrhagic intraventricular and/or paraventricular mass.CONCLUSION Multifocal intraventricular and/or paraventricular GCM in small children is rare.The characteristic magnetic resonance imaging findings can help to differentiate GCMs from other intraventricular tumors.

Clinical and imaging features of subependymal giant cell astrocytoma:report of 20 cases

Background:Subependymal giant cell astrocytoma (SEGA) is a clinically benign brain tumor associated with tuberous sclerosis complex (TSC).There are still controversies on early diagnosis of the tumor.Methods:CT and MR imaging of 20 patients with pathologically confirmed SEGA were retrospectively reviewed.Two radiologists evaluated the location,shape,size,number,edge,cerebral edema,homogeneous or heterogeneous appearance,attenuation and signal intensity,degree of enhancement and calcification of lesions.Their prognoses were based on clinical observations.Results;SEGA showed similar features in imaging:an extra-axial,well-circumscribed,periventricular mass,isodense or slightly hyperdense on CT,hypointensity on T1-weighted imaging and isointensity to hyperintensity on T2-weighted imaging.The mass enhanced markedly and heterogeneously after the administration of contrast agent.Subependymal nodules were demonstrated in 5 cases.Remarkably,17 patients (85％) showed ventricular dilatation and 14 patients (70％) showed calcification in CT and MR imaging.Moreover,perifocal edema was not significantly near the masses.Four cases are associated with tuberous sclerosis complex (TSC).Conclusions:Although there are no pathognomonic imaging findings for SEGA,the following clinical and imaging features might be helpful for the diagnosis,such as the initial age of first or second decade,typical location in the periventricular regions adjacent to the foramen of Monro,hydrocephalus accompanied with raised intracranial pressure,TSC and marked heterogeneous enhancement.

A Bama miniature pig model of monoallelic TSC1 mutation for human tuberous sclerosis complex

Tuberous sclerosis complex(TSC)is a dominant genetic neurocutaneous syndrome characterized by multiple organ hamartomas.Although rodent models bearing a germline mutation in either TSC1 or TSC2 gene have been generated,they do not develop pathogenic lesions matching those seen in patients with TSC because of the significant differences between mice and humans,highlighting the need for an improved large animal model of TSC.Here,we successfully generate monoallelic TSC1-modified Bama miniature pigs using the CRISPR/Cas9 system along with somatic cell nuclear transfer(SCNT)technology.The expression of phosphorylated target ribosomal protein S6 is significantly enhanced in the piglets,indicating that disruption of a TSC1 allele activate the mechanistic target of rapamycin(mTOR)signaling pathway.Notably,differing from the mouse TSC models reported previously,the TSC1^(+/−)Bama miniature pig developed cardiac rhabdomyoma and subependymal nodules,resembling the major clinical features that occur in patients with TSC.These TSC1^(+/−)Bama miniature pigs could serve as valuable large animal models for further elucidation of the pathogenesis of TSC and the development of therapeutic strategies for TSC disease.