Affiliations: [a] Department of Paediatrics, Section Neonatology, Amalia Children Hospital, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands
| [b] Department of Radiology, Amalia Children Hospital, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands
Address for correspondence: E.B.F. Terpstra-Prinsen, MD, Department of Paediatrics, Section Neonatology, Beatrix Children Hospital, University Medical Centre Groningen, Groningen, The Netherlands. Tel.: +31 503614215; Fax: +31 503619548; E-mail: [email protected].
Abstract: Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder. Diagnosis of early onset TSC in newborn infants is usually made by cardiac ultrasound because of circulatory problems due to cardiac rhabdomyoma. Early appearance of cortical tubers on cerebral ultrasound in newborn infants is very rare. Mostly TSC is diagnosed on MRI and not by cerebral ultrasound. Subependymal nodules are the usual presenting sign of TSC on cerebral ultrasound in neonates, which are often misdiagnosed as subependymal hemorrhage, calcifications or ischemic lesions after intrauterine germinal matrix hemorrhage. In this case report, multiple cortical and subcortical tubers are demonstrated in an extremely preterm infant, which were not observed on antenatal ultrasound. Together with cardial rhabdomyoma and the identification of the TSC2 pathogenic mutation in DNA from normal tissue the diagnosis of TSC has been confirmed. To our knowledge this is the first case report of early appearance of disseminated cortical tubers on cerebral ultrasound postnatal in an extremely preterm infant with TSC.