Title | Clinical significance of unilateral Lisch nodules |
Abstract Nr. | P013 |
Purpose | Bilateral Lisch nodules are highly characteristic for neurofibromatosis 1(NF1). We wanted to study the clinical significance of unilateral Lisch nodules. |
Methods | Retrospective study of the clinical files of 59 patients who underwent genetic counseling for neurofibromatosis and were seen in the department of ophthalmology. |
Results | Three 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. |
Conclusion | Because isolated unilateral Lisch nodules are very rare, clinical examination and history for NF1 are necessary to rule out segmental neurofibromatosis. |
Last name | CEUTERICK |
Initials | SDMM |
Department | University Hospital Antwerp, Department of Ophthalmology |
City | Edegem |
Last name | Smets |
Initials | RME |
Department | University Hospital Antwerp, Department of Ophthalmology |
City | Edegem |
Last name | van den Ende |
Initials | JJ |
Department | University Hospital Antwerp, Department of Medical Genetics |
City | Edegem |