Sturge-Weber Syndrome: a Review

Review Article Sturge-Weber Syndrome: A Review Kristin A. Thomas-Sohl, BA*, Dale F. Vaslow, MD†, and Bernard L. Maria, MD, MBA‡ Sturge-Weber syndrome is a rare disorder that occurs Clinical Presentation and Diagnosis with a frequency of approximately 1 per 50,000. The disease is characterized by an intracranial vascular A child with Sturge-Weber syndrome typically presents anomaly, leptomeningeal angiomatosis, most often in- at birth with a facial cutaneous vascular malformation, a volving the occipital and posterior parietal lobes. Fa- port-wine nevus, usually affecting the upper face ipsilat- cial cutaneous vascular malformations, seizures, and eral to the angiomatosis. However, it is important to glaucoma are among the most common symptoms and observe that most children with a facial cutaneous vascular signs. Stasis results in ischemia underlying the lepto- malformation do not have SWS. When the cutaneous meningeal angiomatosis, leading to calcification and malformation is unilateral or bilateral and includes the laminar cortical necrosis. The clinical course is highly ophthalmic division of the trigeminal nerve, the likelihood variable and some children experience intractable sei- of SWS increases. The overall risk of SWS associated with zures, mental retardation, and recurrent strokelike any kind of facial cutaneous vascular malformation is episodes. In this review, we describe the syndrome’s approximately 8%. Children with the involvement of the characteristic features, clinical course, and optimal eyelids are at elevated risk for eye and brain disease [2]. management. © 2004 by Elsevier Inc. All rights Rarely, some children with SWS lack a facial cutaneous reserved. vascular malformation but have the neurologic or ophthalmic components. The intracranial leptomeningeal angio- Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber matosis is a key diagnostic feature in SWS. syndrome: a review. Pediatr Neurol 2004;30:303-310. When a child is born with a facial cutaneous vascular malformation covering a portion of the upper or the lower eye lids, imaging should be performed to screen for Introduction intracranial leptomeningeal angiomatosis. Leptomenin- geal angiomas may not be apparent early on in infancy, but Sturge-Weber syndrome (SWS) is a rare, sporadic longitudinal studies have not yet been undertaken to define neurocutaneous syndrome affecting the cephalic venous the optimal age of screening with magnetic resonance microvasculature. An estimated frequency of 1 per 50,000 imaging. Imaging studies can indicate the degree and live births have SWS, although experts believe many more amount of cerebral calcification, atrophy, neuronal loss, people have the disorder but have not yet been identified and gliosis [3]. Computed cranial tomography provides [1]. The hallmark intracranial vascular anomaly is lepto- adequate evaluation of brain calcifications [4]. However, meningeal angiomatosis, most often involving the occipi- calcifications may be absent or minimal in neonates and tal and posterior parietal lobes, but it can affect other infants. Therefore magnetic resonance imaging with con- cortical regions and both cerebral hemispheres. An ipsi- trast is the preferred imaging modality for evaluation of lateral facial cutaneous vascular malformation usually the leptomeningeal angiomatosis. Metabolic imaging stud- affects the upper face in a distribution consistent with the ies with single-photon emission computed tomography, ophthalmic division of the trigeminal nerve. Other clinical positron emission tomography, or magnetic resonance findings associated with SWS are seizures, glaucoma, spectroscopy may also assist in characterizing the extent headache, transient strokelike neurologic deficits, and of brain disease in SWS. behavioral problems. Hemiparesis, hemiatrophy, and Seventy-five to 90% of children with SWS develop hemianopia may occur contralateral to the cortical abnor- partial seizures by 3 years of age [5]. Of the longitudinal mality. studies published, none demonstrate that early onset of From the Departments of *Child Health and †Radiology, University of Communications should be addressed to: Missouri-Columbia, Columbia, Missouri; and ‡Departments of Dr. Maria; Medical University of South Carolina; 135 Rutledge Pediatrics, Neurology, Physiology and Neuroscience, Medical Avenue; Suite 476; PO Box 250561; Charleston, SC 29425. University of South Carolina, Charleston, South Carolina. Received April 23, 2003; accepted December 29, 2003. © 2004 by Elsevier Inc. All rights reserved. Thomas-Sohl et al: Sturge-Weber Syndrome 303 doi:10.1016/j.pediatrneurol.2003.12.015 ● 0887-8994/04/$—see front matter seizures indicates poor prognosis. In fact, retrospective the epidermis (neuroectoderm) and the telencephalic ves- studies do not support the widely held belief that seizure icle [16]. It is presumed that at approximately 5 to 8 weeks frequency early in life in patients who have SWS is a of gestation interference with the development of vascular prognostic indicator. However, some patients develop drainage of these areas subsequently affects the face, eye, intractable epilepsy, permanent weakness, hemiatrophy, leptomeninges, and brain. Low-flow angiomatosis involv- and visual field cuts, glaucoma, and mental retardation ing the leptomeninges best describes the typical imaging [6,7]. The hemiparesis and hemiatrophy are thought to findings associated with SWS [5]. The angiomatosis is arise from chronic cerebral hypoxia. Other findings com- accompanied by poor superficial cortical venous drainage, mon to patients with SWS are vascular headache (40- and enlarged regional transmedullary veins develop as 60%), developmental delay and mental retardation (50- alternate pathways for venous drainage [9,10,17,18]. The 75%), glaucoma (30-70%), hemianopsia (40-45%), and ipsilateral choroid plexus may become engorged [19-22]. hemiparesis (25-60%) [8]. Microcirculatory stasis promotes chronic hypoxia of both Diagnosis of SWS is made on the basis of the presence the cortex and the underlying white matter [18,20,23,24] or absence of ophthalmologic or neurologic disease. The and hinders neuroglial oxygenation, particularly at times disease course, however, is variable and the patient must of increased demand, such as when seizures occur. The be continually monitored for complications. resulting hypoxia is associated with several physiologic changes: disruption of the blood-brain barrier, increased Neuropathologic Deterioration capillary permeability, and alterations in pH [11-13]. Ultimately, there is tissue loss and dystrophic calcifi- The leptomeningeal angiomatosis usually involves the cation. The key radiologic features, therefore, are vas- occipital and parietal lobes, but can affect the entire cular abnormalities, atrophy, and cortical calcifications cerebral hemisphere. In gross section, the leptomeninges [23-25]. The actual leptomeningeal angiomatosis is usu- appear thickened and discolored by the leptomeningeal ally an anatomically static lesion, but documentation of the angiomatosis. Enlargement of the choroid plexus is com- progressive nature of SWS is clear [26,27]. With increas- mon. Calcifications are observed in meningeal arteries and ing hypoxia, disease progression and neurologic deterio- in cortical and subcortical veins underlying the leptomen- ration may occur. ingeal angiomatosis. Laminar cortical necrosis can accom- pany calcifications, suggesting ischemic damage second- Neurologic Complications ary to venous stasis in leptomeninges and in the cerebral vascular bed. With continued progression, neuronal loss Children with SWS suffer from a variety of neurologic and gliosis can occur. Some of the pathologic findings abnormalities, including epilepsy, mental retardation, and result from the primary leptomeningeal vascular malfor- attention-deficit hyperactivity disorder, migraine, and mation. Obstruction occurring within the vascular malfor- strokelike episodes. Seventy-five to 90% of children with mation can cause stasis, decreased venous return, hypoxia, SWS have epilepsy. Focal seizures are initially observed and decreased neuronal metabolism [9,10]. In addition, the in most children who have SWS. Fever and infection often absence of normal leptomeningeal vessels may hinder precipitate seizure onset. If noncontrasted computed to- neuroglial oxygenation, especially during seizures, when mography obtained in the emergency room setting after there is increased oxygen demand. Ischemia is associated seizure activity is reported as normal or reveals focal with severe physiologic changes, including abnormal calcification ipsilateral to a cutaneous angioma, more drainage into the deep cortical veins and hypertrophy of complete cerebral imaging is warranted. Most seizures are the choroid plexus, increased capillary permeability, hyp- focal, because the lesion responsible for the epilepsy in oxia in the adjacent tissue, alterations in pH, calcium SWS is focal. Seizures are likely caused by hypoxia and deposition, cerebral atrophy, and disruption of the blood- microcirculatory stasis. Children with radiographic find- brain barrier [11-13]. ings of intracranial angiomatosis usually develop seizures Pathologic deterioration occurs in some patients with by the age of 3 years. Approximately half these children SWS; however, disease progression varies widely. Salta- have frank mental retardation [28], whereas others display tory neurologic decline and strokelike episodes can be learning disabilities, attention disorders, or behavioral

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