Tuberous sclerosis

Case contributed by Mostafa El-Feky


Seizures on antiepileptic drugs and learning difficulties (shifted to special class).

Patient Data

Age: 5~10 years
Gender: Female

CT brain


Cortical lesion: Small calcific densities are also noted at the left choroid fissure and left cerebellar hemisphere (cortical tubers).

Subependymal lesions: Multiple subependymal foci of calcifications at the left lateral ventricle (subependymal nodules). Heterogenous soft tissue lesions are noted at the frontal horn of both lateral ventricles bilaterally with marginal coarse calcifications. It measured 12 x 12 x 13 mm on the right side and 6.5 x 5.7 x 6.5 mm on the left side. No evidence of hydrocephalic changes.

White matter lesions: Bilateral subcortical white matter hypodensities are noted, notably at the right frontal, right parietal and left temporal regions. An intra-axial cystic lesion is noted at the right frontal white matter, related to the frontal horn of right lateral ventricle measuring 1.5 x 1.6 cm (cystoid degenerations). 

Left-sided extra-axial fusiform fluid density is noted at the middle cranial fossa measuring 2.5 x 1 cm in dimensions in keeping with arachnoid cyst.

MRI brain with contrast


Multiple cortical and subcortical T2 and FLAIR hyperintense foci scattered all over the cerebral lobes with no definite post-contrast enhancement (cortical and subcortical tubers). 

Multiple subependymal T1 and T2 heterogeneous, FLAIR hyperintense nodules noted along the body of both lateral ventricles reaching up to 12 x 12 mm with post-contrast heterogeneous enhancement and restricted diffusion (subependymal nodules/ hamartomas). The largest lesion which locates at the right caudothalamic groove is suspicious to be sub-ependymal giant cell astrocytoma (SEGA) based on its size.

Few white matter cysts exhibiting T1 and FLAIR hypointense, T2 hyperintense signals and no enhancement; located at the right corona radiate and centrum semiovale, largest still averaging 1.5 x 1.6 cm (enlarged Virchow Robin spaces or cystoid degeneration).     

Ultrasound abdomen and pelvis


Both kidneys show multiple bilateral renal parenchymal hyperechoic lesions are seen scattered in both kidneys averaging 5~12 mm in maximum dimensions. One of these lesions is measuring 10 x 12 mm at the right kidney.

Multiple bilateral tiny renal simple cortical cysts. Only one cyst is large at the mid-zone of the left kidney averaging 3.6 x 2.5 cm in diameters showing fine internal septation.

Case Discussion

This case is known for tuberous sclerosis on antiepileptic treatment presented for follow up. Cortical tubers and subependymal nodules are noted. White matter changes are also noted, manifested with multiple subcortical white matter hypodensities and a cystic lesion (cystoid degeneration). Small subependymal nodules with calcifications at both lateral ventricles mostly representing subependymal hamartomas.

Bilateral subependymal lesion at the frontal horn of the lateral ventricles larger than 1 cm with calcifications, could suggest the possibility of being subependymal giant cell astrocytomas. They are benign tumors, seen almost exclusively in young patients with tuberous sclerosis. They classically appear as an intraventricular mass near the foramen of Monro.

The bilateral renal heterogeneous hyperechoic lesions are suggestive of bilateral small angiomyolipomas. Renal manifestations of tuberous sclerosis include renal angiomyolipoma(s)renal cystsrenal cell carcinoma, and oncocytomas.

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