Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis.
Tuberous sclerosis (TS) is an autosomal dominant condition associated with mutations in the TSC1 and/or TSC2 genes. Clinical manifestations are multisystemic, and they often include lesions in the brain, skin, heart, kidneys, and bones. TSC2 gene mutations can be seen concomitantly with autosomal dominant polycystic kidney disease gene mutations. We present a case of a fetus with prenatal diagnosis of TS that had unique asymmetrical distribution of renal cystic disease. We describe the extensive work up with both fetal and neonatal magnetic resonance imaging with correlating images of the unilateral polycystic renal disease in addition to typical TS brain findings.
New York University School of Medicine, New York, NY, USA. Electronic address: vineet.tyagi@med.nyu.edu.
Vineet
V
Tyagi
Department of Maternal-Fetal Medicine, Lenox Hill Hospital, New York, NY, USA.
Eran
E
Bornstein
Department of Pediatric Nephrology, New York University Langone Medical Center, New York, NY, USA.
Robert
R
Schacht
Department of Radiology, New York University Langone Medical Center, New York, NY, USA.
Shailee
S
Lala
Department of Radiology, New York University Langone Medical Center, New York, NY, USA.
Sarah
S
Milla
D000328:Adult; D005260:Female; D005333:Fetus; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000000981:diagnostic imaging*; D011296:Prenatal Diagnosis; D014402:Tuberous Sclerosis / Q000150:complications / Q000000981:diagnostic imaging*
cystic renal disease; tuberous sclerosis