Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis
| Autor: | Shailee V. Lala, Robert G. Schacht, Vineet Tyagi, Sarah Milla, Eran Bornstein |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Adult
Pathology medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities 030232 urology & nephrology Autosomal dominant polycystic kidney disease Prenatal diagnosis tuberous sclerosis Gene mutation 03 medical and health sciences Tuberous sclerosis Fetus 0302 clinical medicine Prenatal Diagnosis medicine Humans Pediatrics Perinatology and Child Health medicine.diagnostic_test business.industry Infant Newborn lcsh:RJ1-570 Magnetic resonance imaging lcsh:Pediatrics Polycystic Kidney Autosomal Dominant medicine.disease Magnetic Resonance Imaging medicine.anatomical_structure cystic renal disease 030220 oncology & carcinogenesis Mutation Pediatrics Perinatology and Child Health Female TSC1 TSC2 business |
| Zdroj: | Pediatrics and Neonatology, Vol 57, Iss 5, Pp 440-443 (2016) |
| ISSN: | 1875-9572 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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