gms | German Medical Science

Objective: Subependymal giant cell astrocytomas (SEGA) are rare, benign, and slowly growing brain tumors with male predominance, typically arising in the walls of the lateral ventricles and composed of large ganglioid astrocytes which cause increased intracranial pressure, seizures, and focal neurological signs. Here we describe the variety of clinical presentations, radiological features, pathological findings, and genetic analysis of patients with SEGA and tuberous sclerosis complex (TSC). This case report illustrates that SEGA can occur outside the setting of TSC.

Methods: Four cases of SEGA were reviewed. The four patients were males aged 5, 8, 10, and 25 years. All patients had undergone resection of a neuropathologically confirmed SEGA. Furthermore, a molecular genetic analysis to determine gene mutations in TSC genes was done.

Results: The 25-year-old male had no stigmata of TSC at examination. He showed symptoms of elevated intracranial pressure with acute strong headaches, nausea, vomiting and unilateral papilledema. The other three children presented with headache, decreased appetite and with typical features of TSC such as seizures, facial angiofibroma, visual field deficit and blindness. For the one patient with solitary, but histologically proven SEGA and no other stigmata of TSC a molecular genetic analysis to determine TSC gene mutations shows no typical changes in TSC genes TSC 1 and TSC 2.

Conclusions: SEGA usually accompanies TSC, an autosomal dominant hereditary phakomatosis. The reported three cases with TSC show the wide variety of features of TSC with skin manifestations, seizures and intracranial manifestations. According to the revised diagnostic criteria of TSC, one patient has a solitary SEGA without the presence of clinical signs of TSC and with no gene mutations in TSC 1 or TSC 2. So we suggest that there may be another gene mutation which is not yet identified.