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An unusual case with Sturge-Weber syndrome is reported. A computed tomography study revealed the presence of gyriform calcifications in the occipital lobe, and discovered a hidden occipital subcutaneous port-wine nevus, instead of the usually expected nevus in the distribution of the first division of the trigeminal nerve. Existence of an occipital port-wine nevus, which was in the distribution of the greater occipital nerve, suggested a variation with respect to the embryogenesis of the Sturge-Weber syndrome.

Iris hamartomas (Lisch nodules), previously reported in cases of peripheral neurofibromatosis, were found in a 14-year-old girl with segmental neurofibromatosis. The girl was in the 75th percentile for height (168 cm), the 90th percentile for weight (63 kg), and the 50th percentile for head circumference (55 cm). Her blood pressure was 105/70 mm Hg. Her visual acuity (20/20 and J 1), ocular motility, pupillary responses, visual fields, color vision, stereopsis, and intraocular pressure were within normal limits. Biomicroscopy showed several tan elevated nodular hamartomas on the anterior surface of the right peripheral iris but none elsewhere in the right eye and none in the left eye. Café-au-lait spots and freckling were also limited to the right side of the body. The child had no palpable neurofibromas and was in good health and of normal intelligence. There was no family history of neurofibromatosis, multiple café-au-lait spots, axillary freckling, macrocephaly, or learning disabilities. The absence of iris hamartomas has been used to distinguish segmental neurofibromatosis from the peripheral and central or acoustic forms. Thus, their presence in this case is clinically significant. The segmental form not only produces fewer complications but carries less genetic risk. In segmental neurofibromatosis, the Lisch nodules would be expected to be unilateral rather than bilateral, ipsilateral to the side of the cutaneous involvement, and more frequently associated with contiguous cutaneous lesions.