Hemorrhage Into a Subependymal Giant Cell Astrocytoma in an Adult With Tuberous Sclerosis

Abstract

Background: We present an uncommon cause of intracranial hemorrhage in a young adult. Tuberous sclerosis complex is a rare genetic disorder characterized by skin changes, benign systemic or central nervous system tumors [subependymal giant cell astrocytoma (SEGA)], mental retardation, or epilepsy. Hemorrhage into SEGA is exceedingly rare. Case Presentation: We evaluated a 21-year-old college student with migraine. Biopsy of numerous popular skin lesions on his nose revealed adenoma sebaceum. Magnetic resonance imaging brain showed a subependymal nodule near the foramen of Monro suspected to be SEGA. Genetic analysis identified a tuberous sclerosis complex-1 germ line mutation. Surveillance imaging was recommended for the subependymal tumor. Fourteen months later, he presented with spontaneous hemorrhage into the tumor. Hematoma evacuation and tumor resection revealed SEGA. The college graduate was able to return to full-time work. Conclusions: We present an unusual cause of intracranial hemorrhage in a young adult. Thorough work-up and recognition of an underlying genetic predisposition can curtails diagnostic delay when life-threatening complications occur.

Space-Occupying Intraventricular Vascular Lesion in Tuberous Sclerosis Complex

“…To say the least, hemorrhage within a SEGA is still exceedingly rare. 1 The report of our case is a rare phenomenon in a rare, complicated disease. It argued that intracranial lesions of TSC may be diversified, not limited to SEN or SEGA, with mechanisms awaiting exploring.…”

“…We read your Neurologist case report "Hemorrhage into a subependymal giant cell astrocytoma in an adult with tuberous sclerosis" published in July 2021, 1 and found it very interesting. In the article, Barbiero and colleagues presented a case of intratumoral hemorrhage of a subependymal giant cell astrocytoma (SEGA), which is a rare phenomenon, in an adult diagnosed with tuberous sclerosis complex (TSC).…”

“…Thus, a non-SEGA intraventricular lesion in a TSC patient, with hemorrhage, should add to diversification of central nervous system features of TSC as we consider. To say the least, hemorrhage within a SEGA is still exceedingly rare 1…”

Subependymal Giant Cell Astrocytoma Apoplexy: A Case Report and Systematic Review

“…Histopathologically, all cases showed the typical features of SEGA, namely, neoplastic astrocytes in glial fibrillary background, large cell gemistocytes-like with rounded nuclei intermingled with spindle cells, and multinucleated giant cells, prominent vascularity as well as areas of hemorrhages, some inflammatory cells such as mast cells, positive immunohistochemistry for GFAP, low Ki-67 labeling index and negative IDH-1. In addition, genetic analysis was performed recently in two cases both showed TSC1 germline mutation [8,9].…”

“…Because their location and growth potential can cause increased intracranial pressure, obstructive hydrocephalus, focal neurologic deficits, and death [11]. Acute symptoms can develop insidiously by progressive growth of the tumor and abruptly by intratumoral bleeding [8,9,[12][13][14][15][16][17][18][19][20][21][22].…”