Abstracts

Rationale: Accordingly to current literature, it is known that neither the quantity or location of cortical dysplasia presented by patients with tuberous sclerosis complex (TSC) may be related to the degree of cognitive impairment or severity of epilepsy. However, we present the report of three patients with large cortical dysplasia, two of which had conservative treatment and had poor clinical outcome and another who suffered early surgical excision, with better performance. Wonders in this work if we could consider the large dysplasias as poorer prognostic biomarkers and if, in such cases, would be indicated early surgical treatment.Methods: We followed for 3 years (2012-2014), 120 patients with TSC. In this group, there were three patients who drew attention because of large cortical dysplasia they presented. PSF, male, followed between 13 to 15 years-old - Severe neurological impairment, intractable epilepsy , renal angiomyolipoma, retinal astrocytoma, subependymal giant cell astrocytomas (SEGA), cardiac rhabdomyoma, typical dermatologic lesions. MRI showed right temporoparietoccipital calcified atrophic lesion associated with ventricular enlargement. This patient died at age 15 due to complications of surgical excision of SEGA. TGB, female, was followed between 17 to 19 years - Severe neurological impairment, intractable epilepsy, renal angiomyolipoma, massive retinal astrocytoma which led to enucleation of the left eye, typical dermatologic lesions. MRI at birth and at age 11 showed left occipitoparietal dysplasia that evolved with calcification and atrophy evidenced on CT scan performed at age 18. IAT, female, was followed from birth to 2 years-old - mild cognitive impairment, renal cyst, cardiac rhabdomyoma, typical dermatologic lesions and intractable epilepsy until the extensive excision of right frontal dysplasia (at 18 months-old). The lesion was diagnosed at birth. Conservative treatment showed no success. Lesionectomy was performed at 18 months-old - since then the patient is seizure free. At the time of surgery, CT scan showed calcifications in the dysplasia.Results: We would like to discuss whether large cortical dysplasia in patients with TSC can be considered a poor prognostic biomarker. In our cases, we observed that these lesions were associated with an intractable epilepsy, severe cognitive impairment, and important involvement of other organs. The third case, in which was possible to perform the early excision of the lesion, evolved with epilepsy control and better cognitive performance. Another interesting point to discuss is the mechanism that leads to the calcification of these extense lesions over time – it is yet an understood process, but already cited in other reports in the literature.Conclusions: Extensive cortical dysplasia in TSC seems to be associated with a severe cognitive impairment and intractable epilepsy. Early lesionectomy appears to change the natural history of these patients allowing them to have a better psychomotor development.