Neurocutaneous melanosis with transposition of the great arteries and renal agenesis.

Neurocutaneous melanosis (NCM) is rare and is characterized by the proliferation of melanocytes in the central nervous system. A 6-day-old infant boy was referred to our department with giant congenital melanocytic nevi and convulsions. On physical examination the patient had a giant black-brown pigmented nevus covering his face, neck, scalp, shoulders, back, chest, and abdomen. Numerous satellite lesions were noted on the face, neck, and upper extremities. In the right bulbar conjunctiva, a brown plaque was present. Magnetic resonance imaging (MRI) showed hyperintense areas in the brain on short repetition time/short echo time sequences, compatible with intraparenchymal melanin deposits. No leptomeningeal abnormality was seen. Further investigation also revealed agenesis of the right kidney and transposition of the great arteries. Transposition of the great arteries, which has never been reported in NCM, may be an incidental finding. We present a case of NCM associated with agenesis of the right kidney and transposition of the great arteries.