Spinal giant cell tumor in tuberous sclerosis: Case report and review of the literature

Abstract

Background: Patients affected by tuberous sclerosis (TS) have a greater incidence of tumors than the healthy population. Spinal tumours in TS are reported very rarely and consist mainly of sacrococcygeal and cervical chordomas. Method: Case report. Findings: A 21-year-old man, affected by TS, presented a spinal dorsal T2 tumor that caused medullary compression. He underwent decompressive laminectomy and microsurgical excision of a giant cell tumor and an associated aneurysmal bone cyst. Postoperative hypofractionated radiotherapy was performed on the surgical field. At 2.4 years of follow-up the patient reported total recovery of neurological deficits and was free from tumor recurrence. Conclusion: Considering this association, which is the first reported in the literature, spinal magnetic resonance imaging with gadolinium should be performed at the onset of spinal pain in patients affected by TS.

Analysis of twenty pediatric cases of tuberous sclerosis complex: Are we doing enough?

“…Other manifestations like bone cysts have been encountered occasionally. [35] Though our study revealed a high incidence of extracutaneous manifestations, apart from epilepsy and mental retardation no other complications were observed. However, only long-term follow-up will reveal the progression of the disease process and future complications.…”

Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures

“…It is caused by pathogenic variants in either of the TSC1 or TSC2 genes resulting in the loss of functioning protein products hamartin or tuberin, respectively, and subsequent constitutive activation of mammalian target of rapamycin complex 1 (mTORC1) [2,3]. The increased mTOR activation results in benign tumor growth in various organs of the body, mainly the brain, kidneys, skin, lungs, eyes, and liver [2,3], although there have been reports of other less common organ involvement such as bone and pancreas [4,5]. Neurologic involvement is the most common cause of morbidity in this condition, with epilepsy developing in up to 90% of patients with TSC, often within the first year of life [6,7].…”