Case report: contributions of non-neurological findings to the early diagnosis of tuberous sclerosis complex

Abstract

Tuberous sclerosis is a genetic disease that can lead to neurological involvement and cognitive impairment. It manifests clinically through multisystemic hamartomas, especially in the brain, kidneys, heart, skin, and lungs, causing dysfunction of these organs. This report describes a case of tuberous sclerosis in a pediatric patient with neurological lesions, cardiac rhabdomyomas, and epilepsy, aiming to demonstrate that non-neurological findings may contribute to the diagnosis of this disease. A literature search was conducted in scientific databases, resulting in the selection of 12 compatible articles published between 2010 and 2023. The patient, a male child, presented cardiac, systemic, and dermatological alterations since birth, and after diagnosis showed regression of cognitive and speech development. This report describes the cardiac, systemic, and dermatological changes associated with the case, which may assist healthcare professionals in the early diagnosis of the disease. It is important to pay attention to diagnostic criteria, both clinical and genetic, as well as to establish appropriate treatment, in order to avoid complications such as behavioral disorders and epilepsy, present in most cases of this complex. Clinical suspicion associated with complementary examinations allows for early diagnosis and therapy, preventing cognitive, respiratory, cardiac, renal, and neurological alterations. Furthermore, adequate follow-up and a multidisciplinary approach directly impact the patient’s and caregivers’ quality of life.