e-ISSN 1309-2545      ISSN 1301-062X
TR    ENG
 

Download Current Issue.

Volume : 26 Issue : 2 Year : 2020

Current Issue Archive Popular Articles Ahead of Print Submit Your Article Login
Turkish Journal of Neurology Indexed By
  Two Familial Neurofibromatosis Cases With Different Phenomenic Characteristics [Turk J Neurol]
Turk J Neurol. 2008; 14(4): 277-283

Two Familial Neurofibromatosis Cases With Different Phenomenic Characteristics

Ülgen Kökeş, Fazilet Hız, Suna Özlem Mutlu, Deniz Yücel, Meral Çınar
Neurology Clinic, Taksim Education And Research Hospital, İstanbul, Turkey

Scientific BACKGROUND: Neurofibromatosis is an autosomal dominant genetic disease which affects skin, nervous system and eyes. Neurofibromatosis has two frequently seen subtypes which are called Type 1 (Von Recklinghausen disease: periferal neurofibromatosis) and Type 2. Type 1 is characterized with cafe au lait spots, periferal neurofibroms, Lisch nodules and axillar freckles. Type 2 is central neurofibromatosis which appears with bilateral acoustic neurinoms with slightly cutaneous changes around twenty years old. Convulsive disorders are seen in about 5% of patients.
OBJECTIVE: We emphasized the importance of early diagnosis and genetic counseiling on epilepsy.
CASE: We examined two cases that belong to the same family with definitively clinical diagnosis on neurofibromatosis type 1. The mother had amnesia, dermal invasion, forgetfulness, Lisch nodules and no family history. Her daughter had learning disability, dermal invasion, and refractory epilepsy.
CONCLUSION: We considered genetic transmission which was possible mutational transmission for mother and autosomal dominant transmission for daughter. We emphasized that there may be different clinical features in the same family.

Keywords: epilepsy, Lisch sign, neurofibromatosis


Ülgen Kökeş, Fazilet Hız, Suna Özlem Mutlu, Deniz Yücel, Meral Çınar. Two Familial Neurofibromatosis Cases With Different Phenomenic Characteristics. Turk J Neurol. 2008; 14(4): 277-283

Corresponding Author: Ülgen Kökeş, Türkiye


TOOLS
Full Text PDF
Print
Download citation
RIS
EndNote
BibTex
Medlars
Procite
Reference Manager
Share with email
Share
Send email to author

Similar articles
PubMed
Google Scholar




 
© Copyright 2020 Turkish Journal of Neurology
Home        |        Contact
LookUs & OnlineMakale