title: A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits.
abstract: We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus hyperplasia; cryptorchidism; generalized muscle hypotonia; and a distinctive facial appearance. The clinical course was marked by severe neurodevelopmental deficits combined with progressive respiratory decompensation leading to death at the age 6 months. Magnetic resonance imaging (MRI) disclosed a generalized cerebral atrophy with a marked deficit of the white matter. Renal ultrasound and MRI showed markedly enlarged kidneys with multiple small cystic lesions, a pattern indistinguishable from polycystic kidney disease. The postmortem kidney biopsy revealed dysplastic changes, microcysts, and a focal nephrogenic rest, characteristic features of the Perlman syndrome. In children with fetal gigantism, renal abnormalities, and neurological deficits, Perlman syndrome should be considered and may be confirmed by kidney biopsy.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Schilke
authors.forename: F
authors.initials: F
authors.lastname: Schaefer
authors.forename: R
authors.initials: R
authors.lastname: Waldherr
authors.forename: W
authors.initials: W
authors.lastname: Rohrschneider
authors.forename: C
authors.initials: C
authors.lastname: John
authors.forename: U
authors.initials: U
authors.lastname: Himbert
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
authors.forename: G
authors.initials: G
authors.lastname: Tariverdian
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D005877:Gigantism / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009422:Nervous System Diseases / Q000473:pathology; D013577:Syndrome