Sažetak sa skupa

NEUROFIBROMATOSIS TYPE 2 (NF2) : CLINICAL FEATURES OF OUR 9 PATIENTS

Zlatko Sabol ; Klinika za dječje bolesti Dr Sabol, Zagreb, Hrvatska
Zdravka Gjergja ; Klinika za dječje bolesti Dr Sabol, Zagreb, Hrvatska
Svjetlana Bela Klancir ; Klinika za dječje bolesti Dr Sabol, Zagreb, Hrvatska
Ljiljana Kipke Sabol ; Klinika za dječje bolesti Dr Sabol, Zagreb, Hrvatska
Matilda Kovač Šižgorić ; Klinika za dječje bolesti Dr Sabol, Zagreb, Hrvatska
Krasanka Hafner ; Klinika za pedijatriju,KBC, Osijek, Hrvatska
Sanja Hajnšek ; Klinika za neurologiju, KBC, Zagreb, Hrvatska
Pavle Miklić ; Klinika za neurokirurgiju, KBC, Zagreb, Hrvatska

Sažetak

Introduction: Neurofibromatosis type 2 (NF2) is an autosomal dominant (AD) disorder with development of multiple tumors of central (bilateral acoustic neurinomas or vestibular schwanomas) and peripheral nerve system (spinal and cutaneous neurofibromas, schwanomas) and ophthalmologic changes (juvenile cataract). Although the complete clinical expression of the NF2 gene, localized on chromosome 22 can be found mostly in adults, the first changes and/or symptoms can be seen during childhood. AIM of this study was to show the clinical manifestations, clinical course and outcome of NF2 in our patients.
Patients and methods: During the period from 1988 to 2008 we diagnosed, treated and followed-up 9 patients with NF2 (2 males, 7 of female sex). In 5 patients the disease started during childhood. All patients fulfilled the diagnostic criteria for NF2.

Ključne riječi

Hrčak ID:

29652

URI

https://hrcak.srce.hr/29652

Datum izdavanja:

18.11.2008.

Podaci na drugim jezicima: hrvatski

Posjeta: 6.157 *