Journal of Multiple Sclerosis

Does the Coexistence of Tuberous Sclerosis and of Multiple Sclerosis in a Young Woman have a Common Pathogenic Mechanism?

Nicolò Bruschi, Valeria Studer, Sergio Duca, Daniela Leotta and Antonio Bertolotto*

Tuberous Sclerosis Complex (TSC) is a genetic neurocutaneous disorder that presents with multi-organ involvement, including hamartomas in the brain, eyes, heart, lung, liver, kidney and skin. Multiple Sclerosis (MS) is a complex chronic inflammatory and neurodegenerative demyelinating disease of the Central Nervous System (CNS) of unknown etiology.

We report a 37-year-old woman with TSC who developed gradual tingling and hypoesthesia in her left hemi some. Magnetic resonance imaging (MRI) of the brain and cervical spine showed multiple cortical and subcortical tubers and sub ependymal nodules, along with diffuse and periventricular T2 white matter changes, and T2-STIR hyper intensity with edema at C3 level without gadolinium enhancement. Blood test was positive for multiple auto-antibodies not matching any specific autoimmune disease and lumbar puncture evidenced Oligo Clonal Bands (OCB) restricted to the cerebrospinal fluid, pattern II. Considering the OCB detection, the presence of spinal and supra-tentorial demyelinating lesions and the clinical myelitis, a diagnosis of an autoimmune disease of the CNS, MS, was made. She was started on Teriflunomide as maintenance therapy. She continued with her regular follow-up and one year later showed no new clinical or radiological relapse.

A common pathogenic mechanism can be suggested in the present case as dysregulation of the Mammalian Target of Rapamycin (mTOR) pathway is implicated in TSC pathology and in immuno-modulatory mechanisms.