Ciência e terapia do câncer

Tuberous Sclerosis Complex Revealed by a Subependymal Giant Cell Astrocytoma: A Case Report and Literature Review

Abstract

Samir Barkiche, Issam Lalya, Hassan Abourazzek, Abdelhamid El-Omrani and Mouna Khouchani

Introduction: Subependymal giant cell astrocytoma (SGCA) is an uncommon benign brain tumour, usually histologically low grade with slow evolution. frequently associated to tuberous sclerosis complex which is a phacomatosis due to genetic mutations affecting specific tumor suppressor genes. Radical surgery whenever possible is the cornerstone of treatment, mTor inhibitors are also effective in the case of associated TSC when surgical resection is impossible.

Presentation of case: We report herein the case of a 12-year-old Arabian child presented with symptoms of increased intracranial pressure without other neurological complaints. Brain imagine discovered tumor located in the right lateral ventricle with ventricular dilatation. Pathological examination of stereotaxic biopsy confirmed the diagnosis of SGCA. The child died by the complications of intracranial hypertension.

Discussion: Subependymal Giant cell astrocytoma is a rare benign tumor that originates from the wall of the lateral ventricles near the foramen of Monro, associated with the tuberous sclerosis complex or Bourneville’s disease in 5 to 14%. The particularity of our case of SGCA, is the revealing aspect of TSC on the one hand, and the absence of typical cutaneous signs (present in 95% of TSC) and mental retardation on the other hand. The discovery of a huge renal mass suggestive of angiomyolipoma corroborated the diagnosis of TSC in our case.

Conclusion: Subependymal giant cell astrocytoma is a very rare benign tumor; so its diagnosis requires to realize a specific and orientated workup looking for other lesions associated with tuberous sclerosis complex.