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TitelCase study : Patient with ocular and intracranial tumors.
Abstract Nr.P002
DoelTo present a patient with multiple congenital ocular surface tumours, cerebral calcifications and hypertrophic cerebral blood vessels. The report demonstrates the diagnostic difficulties in neurocutaneous syndromes.
MethodesCase report
ResultatenA one month old girl was presented at Leiden University with a conjunctival and subconjunctival mass in the right eye. Additionally, there were two dermoid-like corneal tumours. Further ocular examination showed no retinal or orbital anomalies. Paediatric examination revealed an idiopathic dismaturity. No cutneous lesions or ear appendages were found. The ocular masses were excised and sent for pathological examination.
Histology showed a dermoid-like lesion, suggestive for neurofibroma. Staining was positive for CD34 and almost entirely negative for S100. Lack of S100 is uncommon for neurofibromatosis. The CD34 positivity is more characteristic for an angiofibromatous lesion. A tentative diagnosis of 'dermoid tumour with neurofibromatous characteristics'was made. Afterwarts the child had a normal psychomotor development. At the age of three, the child developed convulsions. No indications for intracranial neurofibromatosis were found. Two months later a vascular anomaly typical for Sturge-Weber was found by a repeated CT scan.
No ocular glaucoma, facial angioma, or other Sturge-Weber sign was found.
ConclusieThe patient was diagnosed with an intracranial Sturge-Weber syndrome concomitant with congenital ocular neurofibromatosis/angiofibromateous tumours. Repeated imaging may reveal unexpected associated conditions.
Auteur 1
NaamMISSOTTEN
InitialenGS
InstituutUniversity Hospital
StadLeiden,The Netherlands
Auteur 2
NaamLaan
InitialenLA
InstituutUniversity Hospital
StadLeiden,The Netherlands
Auteur 3
NaamDe Wolff-Rouendaal
InitialenD
InstituutUniversity Hospital
StadLeiden,The Netherlands
Auteur 4
NaamDe Keizer
InitialenRJ
InstituutUniversity
StadAntwerp
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