Subependymal giant cell astrocytoma (SEGA) is a slowly growing tumor of unknown histogenesis mainly arising in the periventricular regions adjacent to the foramen of Monro [1, 2], which causes increased intracranial pressure, seizures, and focal neurologic signs. The incidence of SEGAs in tuberous sclerosis (TSC) varies from 5 % to 14 %, and may also be detected prenatally or at birth, although they are much more likely to arise during childhood or adolescence and it would be unusual for one to occur after the age of 20 years if not previously present [1, 3]. At the 2012 Washington Consensus Conference, it was decided by the invited expert panel to document the definition of SEGAs as a lesion at the caudothalamic groove with either a size of more than 1 cm in any direction or a subependymal lesion at any location that has shown serial growth on consecutive imaging regardless of size. Most SEGAs will show avid enhancement after contrast administration; however, a growing subependymal lesion even in the absence of enhancement should be considered a SEGA [4, 2]. Although histologically confirmed SEGA is considered pathognomonic for TSC, there are reports of patients with this tumor who have none of the other stigmata of tuberous sclerosis complex [3, 5]. This is an autosomal dominant phacomatosis, due, in 60 % of cases, to spontaneous mutation in two tumor suppressor genes (TSC1 and TSC2) [6–8]. It is manifested by the development of benign tumors in many organs (heart, kidney, skin, and brain). The cutaneous and neurological involvement is almost constant. The central nervous system is represented by cortical tubers, subependymal nodules, subependymal giant cell astrocytomas and retinal astrocytoma. The risk of mental retardation is high in this condition especially when associated with seizures in the first year of life [9–11]. It typically affects patients during childhood and adolescence; neonatal cases have also been reported [11].
The clinical features of SEGA are due to hydrocephalus, raised intracranial pressure and seizures. Hydrocephalus occurs due to obstruction of the cerebrospinal fluid pathway by the tumor itself [11, 12]. As the association of SEGA and tuberous sclerosis is common, the characteristic symptoms of this disease are often present and must be investigated. In some cases, the SEGA can usher in the absence of clinical stigmata of tuberous sclerosis [7, 10, 13].
CT and magnetic resonance (MR) imaging characteristics are usually nonspecific, and the location of the mass and the patient’s age are useful indicators of the specific tissue diagnosis [9, 13, 14]. Although nonspecific, the CT and MR findings objectify a well-circumscribed mass at the foramen of Monro, which frequently exhibits partial calcification or cyst formation. Enhancement following contrast administration is strong but inhomogeneous [9, 15].
Histologically, subependymal giant cell astrocytomas are characterized by triple cell components distributed over a fibrillar background; large astrocyte-like cells with perivascular pseudopalisading and often calcification. There is a wide spectrum of cells within the tumor cells, ranging from gemistocytic astrocytes to long fibrillated and spindle cells, as well as large giant cells, some of them with a ganglionic appearance with large eosinophilic and finely granular cytoplasm, the nucleus are rounded or oval, large, and eccentric. Increased mitotic activity, pleomorphism, occasional endothelial proliferation, and necrosis did not have any prognostic value [16, 7], perivascular lymphocytic inflammatory infiltrate is usually found, as noted in our case [12, 17].
Immunohistochemical studies have demonstrated a mixed glial and neuronal differentiation of subependymal giant cell astrocytoma [13–19], leading some to hypothesize that these lesions arise from multipotent progenitor cells within the germinal mantle of the developing brain [11, 13]. In our case, only astroglial differentiation was demonstrated by detectable levels of GFAP and S100 protein immunoreactivity and absence of both synaptophysin and neurofilament immunoreactivity. These findings are in agreement with literature data, which demonstrated that astroglial differentiation predominantly occurs in cases of SEGA in asymptomatic tuberous sclerosis, in contrast to both glial and neuronal differentiation in tuberous sclerosis-associated cases [11, 17, 19].
Radical and early surgery is the treatment of choice, it is associated with a better prognosis without complications, due partly to the intracranial hypertension and the association with tuberous sclerosis and the surgical procedure itself, which influences the functional and vital prognosis [5, 20, 21]. Recurrences are related to incomplete surgery.
The progress of targeted therapies has a new perspective in SEGA’s treatment; it is the inhibitor of mTOR (everolimus) that indicates from the age of 12 months in subependymal giant cell astrocytoma associated with tuberous sclerosis complex requiring therapeutic intervention but not eligible for surgical resection. This molecule can reduce the volume of the tumor without destroying it entirely. Furthermore, discontinuation of the drug led to a resumption of tumor growth [22].
