Features of Tuberous Sclerosis Onset: Clinical Case

Background . Tuberous sclerosis is an orphan disease. Its rare incidence, low awareness of pediatricians, diversity in clinical signs, inheritance features — all together it complicates its diagnosis and requires multidisciplinary approach. The life of any family with a child suffering from tuberous sclerosis can be challenging, such as: diagnosis itself and its acceptance, issues with optimal management, possible disease progression, complications development. Clinical case description . This article describes a clinical case of tuberous sclerosis, as a severe multisystem disease, newly diagnosed in a child at the age of 5 months. Changes in the kidneys were presented as hypodense area in the right kidney parenchyma and were revealed in utero at 20–21 weeks of gestation. Moderate proteinuria (0.25 g/L) was noted in the early neonatal period. Ultrasound examination has shown polycystic kidney disease with multiple small cysts in both kidneys. The child was diagnosed epilepsy at the age of 5 months confirmed by electroencephalography. Brain MRI has revealed primary signs of tuberous sclerosis: cortical tubers, subependymal nodes, subependymal giant cell astrocytoma. It turned out that the girl's father had skin and kidney symptoms typical for tuberous sclerosis according to family medical history. The family was consulted by geneticist, however, parents have refused to perform molecular genetic testing. The diagnosis was clinically established based on the presence of more than two primary signs as well as additional secondary sign (multiple kidney cysts) according to the International Clinical Consensus Conference on Tuberous Sclerosis criteria. Thus, low incidence and phenotype variability in every patient, as well as the refusal to fully examine the child significantly complicates this pathology diagnosis and understanding further prognosis regarding the patient's life expectancy and its quality. Conclusion . The described clinical case demonstrates how difficult it is for the family to adapt to the fact that their child has genetic disease.