Vol. 7, Issue 2, Part A (2025)

Tuberous sclerosis complex (TSC) is a rare, multisystem genetic disorder caused by pathogenic variants in the TSC1 or TSC2 genes, leading to mTOR pathway dysregulation and the development of benign tumors in multiple organs. Clinical presentation is highly heterogeneous, often involving the central nervous system, skin, heart, kidneys, eyes, and oral cavity. Early diagnosis and individualized, multidisciplinary management are essential to minimize morbidity and improve prognosis.
This case report describes a male infant with prenatal diagnosis of a cardiac rhabdomyoma detected on routine fetal ultrasound. Postnatal evaluation revealed multiple hypomelanotic macules, facial angiofibromas, a Shagreen patch, and dental anomalies. Neuroimaging identified multiple cortical tubers and subependymal nodules, with calcifications typical of TSC. Seizures began within the first year of life, manifesting as infantile spasms, and were later controlled. Ophthalmologic assessment confirmed retinal hamartomas. Despite early prenatal diagnosis, multidisciplinary follow-up was only initiated after the patient's migration to Portugal, highlighting disparities in access to healthcare.
TSC-related neuropsychiatric disorders, including epilepsy, intellectual disability, autism spectrum disorder, and behavioral dysregulation, are major contributors to disease burden. In this case, developmental delay was noted, reinforcing the need for early developmental monitoring and intervention. Cutaneous, neurologic, cardiac, renal, and dental features supported the clinical diagnosis based on the 2012 consensus criteria.
Genotype-phenotype correlations indicate that TSC2 mutations are associated with more severe clinical phenotypes, including early-onset epilepsy and cognitive impairment. Multisystemic imaging and clinical surveillance remain essential for ongoing care.
This case underscores the importance of early detection, thorough clinical evaluation, and coordinated multidisciplinary follow-up in improving outcomes for children with TSC. Delayed access to specialized care can impact long-term prognosis, emphasizing the need for equitable healthcare access, particularly in migratory populations.