A case of Perlman syndrome presenting with hemorrhagic hemangioma.
The presence of enlarged, echogenic kidneys in a newborn with generalized macrosomia points toward diagnosis of an overgrowth syndrome. These include Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes. Perlman syndrome is an autosomal recessively inherited overgrowth syndrome characterized by fetal gigantism, visceromegaly, unusual face, bilateral renal hamartomas with nephroblastomatosis, and Wilms tumor. We report a male infant who exhibits typical features of Perlman syndrome with an unusual presentation. In this report, it is emphasized that hemangioma in neonatal period may be an unusual finding in Perlman syndrome.
Pirgon
Ozgur
O
Department of Pediatric Endocrinology, School of Medicine, Selcuk University, Konya, Turkey. ozpirgon@hotmail.com
Atabek
Mehmet Emre
ME
Akin
Fatih
F
Sert
Ahmet
A
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D017809:Fatal Outcome; D006391:Hemangioma / Q000473:pathology / Q000601:surgery*; D006470:Hemorrhage / Q000601:surgery*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed / Q000379:methods