Tuberous sclerosis, a case report

Abstract

Introduction: tuberous sclerosis is a chronic multisystem disorder with an autosomal dominant inheritance pattern, where the severity of symptoms and complications determine the prognosis in these patients.Case report: three-year-old, white skin female patient, who went to the on-call department of Jose Luis Miranda Provincial Pediatric Hospital because, according to her mother, she presented inattention and headaches. Questioning, physical examination and complementary tests were performed. Although the tests did not show any abnormality, a neurocutaneous syndrome (tuberous sclerosis) may be suspected in this patient. She is currently under periodic monitoring by the Neuropediatrics, Cardiology, Dermatology and Ophthalmology services.Conclusions: tuberous sclerosis is a neurocutaneous syndrome with systemic repercussions. Sometimes dermatologic lesions are the earliest form of presentation of the disease. Correct physical examination of the skin is necessary to reach a timely diagnosis of neurocutaneous syndromes. Because of its variation between subjects, mastery of the major and minor criteria is a requirement.

Keywords

• esclerosis tuberosa
• síndromes neurocutáneos
• trastornos heredodegenerativos del sistema nervioso.