Familiar spastic paraplegia presenting in a boy with Klinefelter syndrome--case report.
In this case report, the boy with familiar spastic paraplegia, the relatively rare genetic disorder and Klinefelter syndrome that was found during investigation, has been presented. The diagnosis of the disease has been established by anamnesis, clinical features and relevant diagnostic procedures, so the criteria for autosomal dominant type of the familiar spastic paraplegia have been fulfilled. The therapeutic possibilities are limited to the physical therapy and orthopedic treatment of feet deformities.
Uzicanin
Sajra
S
Pediatric Clinic, University Clinical Center Sarajevo. uzicanin@bih.net.ba
Catibusic
Feriha
F
Terzic
Sabina
S
Zubcevic
Smail
S
D002648:Child; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000150:complications* / Q000235:genetics