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Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
oleh: Mohammad Sharifi, Maral Namdari
Format: | Article |
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Diterbitkan: | Wolters Kluwer Medknow Publications 2016-09-01 |
Deskripsi
Purpose: To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement. Methods: A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities. Results: The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL. Conclusion: Since the skin and ocular manifestations can be easily observed at birth examination, pediatricians and ophthalmologists should be aware of this condition.