Variable presentations of Currarino syndrome in three members of the same family.
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.
Bunc
Gorazd
G
Department of Neurosurgery, University Medical Centre Maribor, Maribor, Slovenia.
Ravnik
Janez
J
Vorsic
Matjaz
M
Ravnik
Maja
M
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