Tuberous sclerosis in Ecuador. Case series report

AIm: To study the clinical characteristics of tuberous sclerosis (TSC) in patients of a Pediatric Hospital in Ecuador. Patients and methods: A search of medical records of patients with tuberous sclerosis was carried out between 2012 and 2016 at the Pediatric Hospital of Ecuador. 31 patients with definitive diagnosis criteria were selected. We analyzed the clinical records, initial diagnosis, the clinical course and the clinical and radiological manifestations of TSC at the different organs, with particular interest in central nervous system disorders and their relationship with neurological and neuropsychiatric aspects. Results: 22.5% of patients had a family history of TSC. 61.3% of patients were diagnosed before two years of age. In 74.1% of patients, seizures were the most frequent clinical sign at the time of diagnosis. Of this group, 39.1% had refractory epilepsy. In 21 cases (67.74%), some type of cognitive impairment was found, and half (51.6%) of the patients showed behavioral disorders–with the most frequent reports being autism spectrum disorder and anxiety. Multisystem disorders found were heart (19.35%), renal (6.45%), ophthalmological (6.45%), and skin (70.96%), respectively. Conclusions: This series of patients represents the first Ecuadorian descriptive study on TSC. The most frequent manifestations were neurological: epilepsy, autistic spectrum and cognitive disability. We believe that initial diagnosis should be timely made, in order to prevent the comorbidities associated with this pathology.