Abstract
A 5-year-old girl with giant cutaneous congenital melanocytic nevi was examined because of right esotropia. She had multiple uveal coloboma-like lesions of various sizes and irregular areas of retinal pigment epithelial alterations in the right fundus. Magnetic resonance imaging studies demonstrated right-sided ventriculomegaly, right intraventricular presumed dysplastic neuroectodermal tumor, and right-sided cortical migration anomaly. The clearly lateralized ocular, cutaneous, and central nervous system findings in this patient may point towards a probable common underlying pathogenetic mechanism involving the neural crest cells at the center stage. These findings also help to strengthen the view that neurocutaneous melanosis may represent a rare form of phakomatosis.
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