Tuberous sclerosis complex

A 55-year-old female presents with headaches and seizures.

Multifocal nodular calcifications involving the ependymal contour of both lateral ventricles.
Heterogeneous mass involving the ependymal contour at the level of the foramen of Monro, with mass effect and secondary trapping of the left lateral ventricle.
Subcortical hypodensity involving the left inferior frontal gyrus with other less evident involving the subcortical white matter of the superior frontal gyrus.

Tuberous sclerosis complex (TSC) is a multisystemic disorder characterised by the development of multiple benign tumours of the embryonic ectoderm (hamartomas) in various organs of the body. [3]
TSC is a genetic disorder with a reported incidence of one in 6000 births; approximately one third of cases are familial and caused by mutations in tumour suppressor genes TSC1 and TSC2. The other two thirds of cases are sporadic and due to spontaneous mutations.
It is usually diagnosed in infancy or early childhood, however, the diagnosis can be made later in life based on the time of appearance of the different manifestations. [2]
Clinically has a classic triad consisting of seizures, facial angiofibromas and mental retardation. [2]
The neurological manifestations are:
Cortical and subcortical tubers, present in 95% of patients, are better assesed in MRI, they are hypointense on T1WI and hyperintense on T2 WI and FLAIR images.[4] After administration of contrast, only 10% enhance. [1]
Subependymal nodules (SEN), present in 90% of patients, can occur anywhere along the ventricular surface, but are most commonly found in the caudothalamic groove near the foramen of Monro; they are better detected on CT because they tend to calcify, on MRI they appear hyperintense on T1 WI and isointense to hyperintense on T2 WI and FLAIR images when they have not yet calcified. [2]
Subependymal giant cell astrocytoma (SEGA), present in 10-15% of patients, derive from subependymal nodules, are larger (>1cm) with more intense enhancement, most located at the foramen of monro like in this case. [1]
White matter abnormalities, present in 15-44%, which include superficial abnormalities associated with cortical tubers, radial white matter bands, and cystlike white matter lesions [1, 4]
Dermatological manifestations include: facial angiofibromas (Pringle nodules or adenoma sebaceum), hypomelanotic macules (ash leaf spots), shagreen patches, etc.[2]
Pulmonar manifestations include: lymphangioleiomyomatosis and multifocal micronodularpneumocyte hyperplasia. [4]
Cardiac manifestations: cardiac rhabdomyomas.
Renal manifestations include:angiomyolipomas, cysts and Renal Cell Carcinoma. [2]
These patients need life-long follow-up for monitoring and surveillance
of potentially life-threatening complications. [2]
The teaching point is that the presence of cortical and subependymal tubers, renal angiomyolipomas and cardiac rhabdomyoma allow us not only to confirm the diagnosis in cases with characteristic symptoms but also to suspect TSC in new cases without any clinical signs. [1]