Tuberous Sclerosis Complex
Keywords:
infant, tuberous sclerosis, epilepsy.Abstract
Introduction: Tuberous sclerosis is an autosomal dominant genetic disease with highly variable penetrance, characterized by skin lesions, mental retardation and the appearance of multiple tumors.
Objective: To contribute to the knowledge of this disease with emphasis on the usefulness of clinical knowledge and imaging characteristics for diagnosis.
Clinical case report: We report a 3-month-old female infant, who at 2 months of age began to have paroxysmal events that started with interrupting activity, blinking of the right eye followed by cephalic version to the right, oro-alimentary automatisms and dystonic posture of both upper limbs, during short periods (30 seconds) with spontaneous recovery without sequelae. These events occurred several times a day. Hypomelanotic spots were found on the skin; as well as a confetti-shaped lesion at the upper dorsal level and left axillary region. Magnetic resonance imaging was performed showing the presence of subependymal nodules and cortical tubercles. Treatment with sodium valproate and Vigabatrin was started with positive evolution.
Conclusions: The case reported is an example of a patient with tuberous sclerosis due to a de novo mutation, with a typical clinical-imaging picture, which allowed the diagnosis; with no history of affected relatives and with improvement favored by the treatment used.
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References
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