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Juvenile Xanthogranuloma of the Iris as the First Manifestation of a Neurofibromatosis
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Juvenile Xanthogranuloma of the Iris as the First Manifestation of a Neurofibromatosis
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Journal Article
Juvenile Xanthogranuloma of the Iris as the First Manifestation of a Neurofibromatosis
2003
Overview
Complementary examinations including cerebral and ocular magnetic resonance imaging, blood dosage of dopamine and NSE, a renal echography and a renal vessels Doppler, and x-rays of the spinal column were performed. The diagnosis is based on die presence of two or more of the following criteria6: (1) a minimum of six café-au-lait spots; (2) a minimum of two neurofibromas of any type, or a minimum of one plexiform neurofibroma; (3) freckling in the axillary or inguinal region; (4) optic glioma; (5) a minimum of two Lisch nodules; (6) a distinctive osseous lesion (dysplasia of the sphenoid bone or dysplasia or thinning of the long bone cortex); and (J) a first-degree relative with neurofibromatosis 1 according to the preceding criteria. Other ocular manifestations of neurofibromatosis 1 are Lisch nodules, plexiform neurofibroma of the eyelid, anomalies of me orbital bones, hyperplastic intracorneal nerves, uveal ectropion, buphthalmos, choroidal tumor, optic gliomas, and, rarely, retinal hamartomatous lesions.7 Juvenile xanthogranuloma is a minor feature of neurofibromatosis 1 with a frequency estimated at 2%, which is far from that of café-au-lait spots (with a frequency of more than 95%), axillary freckling (65% to 84%), skin neurofibromas (14% to 95%), and Lisch nodules (22% to 96%).8 Despite its relatively low frequency, a diagnosis of ocular juvenile xanthogranuloma in a young child requires at least a full clinical examination and follow-up to screen for other signs of neurofibromatosis 1.
Publisher
SLACK Incorporated,Slack,SLACK INCORPORATED
