title: Variable presentations of Currarino syndrome in three members of the same family.
abstract: The article presents an autosomal dominant Currarino syndrome with incomplete penetrance in three out of four members of the same family. The mother had only a bony sacral defect and no other signs. In the older daughter, the syndrome was completely developed with presacral cystic teratoma, a sacral defect and abdominal discomfort. The younger daughter had no clinical or imaging features of the disease. The only son harboured presacral meningocele, urinary stenosis and a sacral defect. The daughter and son with developed variants of the syndrome were successfully operated on and are now symptom free.
authors.affiliation: Department of Neurosurgery, University Medical Centre Maribor, Maribor, Slovenia.
authors.forename: Gorazd
authors.initials: G
authors.lastname: Bunc
authors.forename: Janez
authors.initials: J
authors.lastname: Ravnik
authors.forename: Matjaz
authors.initials: M
authors.lastname: Vorsic
authors.forename: Maja
authors.initials: M
authors.lastname: Ravnik
mesh_terms: D000328:Adult; D019299:Decompression, Surgical; D005192:Family Health; D005260:Female; D006801:Humans; D040582:Inheritance Patterns; D007796:Laminectomy; D008297:Male; D008588:Meningocele / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D010386:Pelvic Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D011871:Radiology; D012007:Rectum / Q000002:abnormalities; D012447:Sacrum / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D016135:Spinal Dysraphism / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D013577:Syndrome; D013724:Teratoma / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014463:Ultrasonography; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000628:therapy