Interdisciplinary Neurosurgery (Jun 2021)
Subependymal giant cell astrocytoma (SEGA) in a mother & son with tuberous sclerosis complex (TS): A rare case report & review of literature
Abstract
Introduction: Subependymal giant cell astrocytoma (SEGA) is the most common central nervous system neoplasm in patients with tuberous sclerosis complex (TSC). Pathologic brain lesions include cortical tubers, subependymal nodules (SENs), subependymal giant cell tumors (SGCTs), and white matter abnormalities. SENs develop during foetal life in the subependymal wall of the lateral ventricles, are present in most patients with TSC, and are usually asymptomatic. The growth of SEN peaks at puberty and stops by the end of the third decade of life. Transformation of a SEN into a SEGA is usually a gradual process, of which the highest rate is in the first two decades of life. Case report: The authors reports a family with SEN and SEGA in a mother and son with Tuberous Sclerosis complex. A 16-year-old male patient presented with progressive painless loss of vision with headache. A comprehensive clinical evaluation of the patient and his mother revealed clinical features characteristic of TSC. Family history was also suggestive of TSC. Neuroimaging revealed an enhancing left ventricular mass lesion located in the region of the foramen of Monro with mass effect. The lesion had radiographic characteristics of SEGA. Retrospective Neuroimaging of the patient’s mother also revealed multiple calcified discrete subependymal nodules. The patient underwent gross-total resection of the tumor. Tumor histology was consistent with SEGA. Conclusion: To date, no radiographic features have been identified that will accurately predict which subependymal nodules will grow and require treatment. To our knowledge no reports of SEN and SEGA in a family members with clinical diagnosis of Tuberous Sclerosis has been reported in the literature till date. We thereby present a literature review of familial TSC and SEGA reports as well as look at radiological features that assist in predicting progression in SEGA and SENs.
