Early appearance of tuberous sclerosis complex on cerebral ultrasound in extremely preterm infant
- Resource Type
- Authors
- K. Kamphuis-van Ulzen; E.B.F. Terpstra-Prinsen; Kian D. Liem
- Source
- Journal of Neonatal-Perinatal Medicine, 10, 203-206
Journal of Neonatal-Perinatal Medicine, 10, 2, pp. 203-206
- Subject
- Male
Cortical tubers
congenital, hereditary, and neonatal diseases and abnormalities
Pathology
medicine.medical_specialty
Vascular damage Radboud Institute for Health Sciences [Radboudumc 16]
Rhabdomyoma
03 medical and health sciences
Tuberous sclerosis
Fatal Outcome
0302 clinical medicine
Tuberous Sclerosis
030225 pediatrics
Tuberous Sclerosis Complex 2 Protein
Subependymal nodules
Humans
Medicine
Ultrasonography
Cerebral Cortex
business.industry
Tumor Suppressor Proteins
Ultrasound
Infant, Newborn
medicine.disease
Extremely Preterm Infant
nervous system diseases
Infant, Extremely Premature
Pediatrics, Perinatology and Child Health
Germinal matrix hemorrhage
business
Subependymal Hemorrhage
030217 neurology & neurosurgery
Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
- Language
- ISSN
- 1878-4429
1934-5798
Item does not contain fulltext 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.