title: Isolated unilateral tuberous sclerosis-associated renal cystic disease in a neonate.
abstract: We present a male infant with antenatally detected, focal, unilateral apparently isolated renal cystic disease with morphological features of renal involvement in tuberous sclerosis. Only one previous case with similar presentation has been described. Most affected children present with either diffuse bilateral renal cystic disease or extrarenal manifestations. The major genes involved in tuberous sclerosis are now well described, and early onset of severe renal cystic disease in affected children often is related to the presence of a contiguous gene deletion syndrome involving TSC2 and PKD1 on chromosome 16.
authors.affiliation: Department of Pediatric Pathology, Great Ormond Street Hospital, London, UK.
authors.forename: M A
authors.initials: MA
authors.lastname: Weber
authors.forename: R A
authors.initials: RA
authors.lastname: Risdon
authors.forename: M
authors.initials: M
authors.lastname: Malone
authors.forename: P G
authors.initials: PG
authors.lastname: Duffy
authors.forename: N J
authors.initials: NJ
authors.lastname: Sebire
mesh_terms: D005260:Female; D007839:Functional Laterality; D006801:Humans; D007231:Infant, Newborn; D052177:Kidney Diseases, Cystic / Q000150:complications* / Q000473:pathology*; D008297:Male; D009392:Nephrectomy; D011247:Pregnancy; D014402:Tuberous Sclerosis / Q000150:complications*; D016216:Ultrasonography, Prenatal