A case of Perlman syndrome: Fetal gigantism, renal dysplasia, and severe neurological deficits

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...

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Bibliographic Details
Published in:American journal of medical genetics 2000-03, Vol.91 (1), p.29-33
Main Authors: Schilke, Kathrin, Schaefer, Franz, Waldherr, Rüdiger, Rohrschneider, Wiltrud, John, Christoph, Himbert, Urban, Mayatepek, Ertan, Tariverdian, Gholamali
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - pathology
Biological and medical sciences
cerebral atrophy
Complex syndromes
Fatal Outcome
Female
fetal overgrowth
Gigantism - pathology
Humans
Infant
Infant, Newborn
Kidney - abnormalities
Male
Medical genetics
Medical sciences
nephroblastomatosis
nephrogenic rest
Nervous System Diseases - pathology
Syndrome
visceromegaly
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Summary: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. Am. J. Med. Genet. 91:29–33, 2000. © 2000 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(20000306)91:1<29::AID-AJMG5>3.0.CO;2-U