Introduction: Tuberous Sclerosis Complex is a rare inherited disease with anomalies of the kidney. In adults Tuberous Sclerosis manifests typically with medical refractory epilepsy, mental retardation and facial angiofibromas, sometimes combined with other features like angiomyolipomas of the kidney. However, in children under the age of five years renal cysts are the more common renal feature.
Method: We present the case of an infant with a prenatal diagnosed tumour of the right adrenal gland. After pregnancy without further complications a male term infant was vaginally delivered. The first presenting signs were a huge tumour palpable under the liver and a scrotal hydrocele without further malformations. The neurological development seemed to be normal. Visualization of the kidneys by ultrasound and magnetic resonance imaging showed grossly enlarged kidneys with cysts. The diagnose polycystic kidney disease was confirmed by biopsy at the age of three months. During this stay a complex partial seizure occurred. Further evaluation revealed hypopigmented macules of the skin under Wood's lamp examination and multiple cortical tubers in magnetic resonance imaging of the brain.
Result: In our patient we detect a germline deletion that affects both the TCS2 gene and one of the genes that leads to autosomal dominant polycystic kidney disease on chromosome 16p 13.3, resulting in a polycystic kidney phenotype (Tuberous sclerosis/Polycystic kidney disease contiguous gene syndrome, gene map locus 16p 13.3 TCS2/PKD1).
Conclusion: This mutation is found in 2–3 percent of children with tuberous sclerosis and should be kept in mind in neonates with polycystic kidney disease.
