Ealy diagnosis of tuberous sclerosis in a newborn with opsoclonus: a case report

Abstract

Classified as a neurocutaneous syndrome, tuberous sclerosis is characterized by the formation of hamartomas, in a multisystemic way, resulting from gene alteration of tumor suppressors. The presence of seizures due to various changes in the central nervous system, hypochromic skin lesions, cardiac rhabdomyomas and, rarely, changes in ocular motricity, are possible phenotypic presentations of tuberous sclerosis. The diagnosis is made based on the presence of clinical criteria and/or genetic testing, usually occurring at preschool age, and is rarely reported in neonates based on clinical signs and symptoms. The authors reported an early diagnosis in a newborn with an unusual initial clinical presentation, which is rarely reported in the literature, with opsoclonus associated with small hypochromic macules. After complementary exams, cardiac nodules, cortical and subcortical tubes were evidenced. Once the diagnosis was confirmed during the
first month of life, it was possible to allow the multidisciplinary and periodic follow-up of the patient, with a direct impact on the quality of life of the entire family context. The management of such a clinical condition depends on a specialized center to meet the psychosocial needs of patients, families and care, in addition to performing regular exams to assess the progression of lesions intrinsic to tuberous sclerosis.