Fundus features of a case of neurocutaneous melanosis.
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.
Kiratli
Hayyam
H
Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey. hkiratli@hacettepe.edu.tr
Sahin
Afsun
A
D002675:Child, Preschool; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008279:Magnetic Resonance Imaging; D008548:Melanosis / Q000175:diagnosis*; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*; D009508:Nevus, Pigmented / Q000175:diagnosis*