There are at least 7 additional diseases in which a cutaneous or ocular vascular anomaly is associated with an abnormality of the nervous system: (1) meningoor encephalofacial (encephalotrigeminal) angiomatosis with cerebral calcification (Sturge-Weber syndrome); (2) dermatomal hemangiomas and spinal vascular malformations (sometimes with limb hypertrophy, as also occurs in Klippel-Trenaunay-Weber syndrome and in neurofibromatosis); (3) the epidermal nevus (linear sebaceous nevus) syndrome; (4) familial telangiectasia (Osler-Rendu-Weber disease); (5) hemangioblastoma of cerebellum and retina (von Hippel-Lindau disease); (6) ataxia-telangiectasia (Louis-Bar disease); and (7) angiokeratosis corporis diffusum (Fabry disease). The last three disorders are considered elsewhere: ataxia-telangiectasia and Fabry disease with the inherited metabolic disorders in Chap. 36, and von Hippel-Lindau disease below and with hemangioblastoma in Chap. 30.
This condition has been referred to as the Sturge-Weber syndrome, as it was W. Allen Sturge who, in 1879, described a child with sensorimotor seizures contralateral to a facial “port-wine mark,” and Weber and Parkes, who gave the first radiographic demonstration of the atrophy and calcification of the cerebral hemisphere ipsilateral to the skin lesion. This eponym overlooks the important intervening contributions of Kalischer (1897, 1901), who first described the meningeal angioma in conjunction with the facial one; of Volland, who demonstrated the intracortical calcific deposits; and of Dimitri, who in 1923 described the characteristic double-contoured radiographic shadows. Krabbe showed conclusively that the calcification lay not in the blood vessels (as Dimitri and many others had concluded), but in the second and third layers of the cortex (see Wohlwill and Yakovlev for historical review and bibliography).
A vascular nevus is observed at birth to cover a large part of the face and cranium on one side (in the territory of the ophthalmic division of the trigeminal nerve). In one-quarter of the cases the nevus is bilateral. The lesions vary in extent, the most limited being an involvement of only the upper eyelid and forehead, and the most extensive being the entire head and even other parts of the body. The skin lesion is deep red (port-wine nevus) and its margins may be flat or raised; soft or firm papules, evidently composed of vessels, cause surface elevations and irregularities. Orbital tissue, especially the upper eyelid, is almost invariably involved; congenital buphthalmos may enlarge the eye before birth and glaucoma may develop later in that eye, causing blindness. The choroid is implicated in some cases. The increased cutaneous vascularity may result in an overgrowth of connective tissue and underlying bone, giving rise to a deformity like that of the Klippel-Trenaunay-Weber syndrome. Indications of cerebral disease appear as early as the first year of life or later in childhood; the most frequent clinical manifestations are unilateral seizures followed by increasing degrees of spastic hemiparesis with smallness of the arm and leg, hemisensory defect, and homonymous hemianopia, all on the side contralateral to the trigeminal nevus. Skull films (usually normal just after birth) taken after the second year reveal a characteristic “tramline” calcification, which outlines the involved convolutions of the parietooccipital cortex. CT and MRI show the abnormalities of the involved cortex at an earlier age (Fig. 37-12) and in greater detail.