Meeting abstract

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

Zlatko Sabol ; Clinic for Sick Children Dr Sabol, Zagreb, Croatia
Zdravka Gjergja ; Clinic for Sick Children Dr Sabol, Zagreb, Croatia
Svjetlana Bela Klancir ; Clinic for Sick Children Dr Sabol, Zagreb, Croatia
Ljiljana Kipke Sabol ; Clinic for Sick Children Dr Sabol, Zagreb, Croatia
Matilda Kovač Šižgorić ; Clinic for Sick Children Dr Sabol, Zagreb, Croatia
Krasanka Hafner ; Department of Pediatrics, KBC, Osijek, Croatia
Sanja Hajnšek ; Department of Neurology, KBC, Zagreb, Croatia
Pavle Miklić ; Department of Neurosurgery, KBC, Zagreb, Croatia

Abstract

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.

Keywords

Hrčak ID:

29652

URI

https://hrcak.srce.hr/29652

Publication date:

18.11.2008.

Article data in other languages: croatian

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