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Deze abstract is toegekend aan sessie Poster session
TitelClinical significance of unilateral Lisch nodules
Abstract Nr.P013
DoelBilateral Lisch nodules are highly characteristic for neurofibromatosis 1(NF1). We wanted to study the clinical significance of unilateral Lisch nodules.
MethodesRetrospective study of the clinical files of 59 patients who underwent genetic counseling for neurofibromatosis and were seen in the department of ophthalmology.
ResultatenThree cases of unilateral Lisch nodules were observed. One case had unilateral Lisch nodules without any features of NF1. In 2 cases segmental neurofibromatosis was diagnosed. One child with NF1 initially presented unilateral Lisch nodules but developed bilateral Lisch nodules during follow-up. Of the 35 NF1 patients 28 ultimately presented bilateral Lisch nodules, 7 patients (5 less than 6 years old) did not demonstrate the nodules. No Lisch nodules were detected in the 2 cases of NF 2, in 4 cases where the diagnosis of NF1 remained doubtfull and in 15 patients with negative screening.
ConclusieBecause isolated unilateral Lisch nodules are very rare, clinical examination and history for NF1 are necessary to rule out segmental neurofibromatosis.
Auteur 1
NaamCEUTERICK
InitialenSDMM
InstituutUniversity Hospital Antwerp, Department of Ophthalmology
StadEdegem
Auteur 2
NaamSmets
InitialenRME
InstituutUniversity Hospital Antwerp, Department of Ophthalmology
StadEdegem
Auteur 3
Naamvan den Ende
InitialenJJ
InstituutUniversity Hospital Antwerp, Department of Medical Genetics
StadEdegem
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