Review articleSturge-Weber syndrome: A review
Introduction
Sturge-Weber syndrome (SWS) is a rare, sporadic neurocutaneous syndrome affecting the cephalic venous microvasculature. An estimated frequency of 1 per 50,000 live births have SWS, although experts believe many more people have the disorder but have not yet been identified [1]. The hallmark intracranial vascular anomaly is leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes, but it can affect other cortical regions and both cerebral hemispheres. An ipsilateral facial cutaneous vascular malformation usually affects the upper face in a distribution consistent with the ophthalmic division of the trigeminal nerve. Other clinical findings associated with SWS are seizures, glaucoma, headache, transient strokelike neurologic deficits, and behavioral problems. Hemiparesis, hemiatrophy, and hemianopia may occur contralateral to the cortical abnormality.
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Clinical presentation and diagnosis
A child with Sturge-Weber syndrome typically presents at birth with a facial cutaneous vascular malformation, a port-wine nevus, usually affecting the upper face ipsilateral to the angiomatosis. However, it is important to observe that most children with a facial cutaneous vascular malformation do not have SWS. When the cutaneous malformation is unilateral or bilateral and includes the ophthalmic division of the trigeminal nerve, the likelihood of SWS increases. The overall risk of SWS
Neuropathologic deterioration
The leptomeningeal angiomatosis usually involves the occipital and parietal lobes, but can affect the entire cerebral hemisphere. In gross section, the leptomeninges appear thickened and discolored by the leptomeningeal angiomatosis. Enlargement of the choroid plexus is common. Calcifications are observed in meningeal arteries and in cortical and subcortical veins underlying the leptomeningeal angiomatosis. Laminar cortical necrosis can accompany calcifications, suggesting ischemic damage
Neurologic complications
Children with SWS suffer from a variety of neurologic abnormalities, including epilepsy, mental retardation, and attention-deficit hyperactivity disorder, migraine, and strokelike episodes. Seventy-five to 90% of children with SWS have epilepsy. Focal seizures are initially observed in most children who have SWS. Fever and infection often precipitate seizure onset. If noncontrasted computed tomography obtained in the emergency room setting after seizure activity is reported as normal or reveals
Ocular complications
Ocular complications arise primarily from vascular abnormalities of the conjunctiva, episclera, retina, and choroid. When the facial cutaneous vascular malformation involves the eyelid, vascular abnormalities of ocular circulation may occur. Glaucoma is the most common ophthalmic complication of SWS, occurring in 30-70% of patients [29], [33]. Presentation of glaucoma is bimodal; 60% develop glaucoma in infancy when the eye is susceptible to increased intraocular pressure, 40% develop glaucoma
Psychosocial aspects of SWS
Families of patients with mild impairments are often able to easily adjust to living with SWS [42]. However, for others, SWS is devastating, especially when children experience recurrent seizures, pervasive learning and behavioral problems, and disabling visual impairment. Also, classmates may taunt children with SWS because of apparent physical and social disabilities. Because the effects of SWS on individual patients and families are difficult to predict, support and education tailored to
Radiologic findings
Advances in neuroimaging techniques have afforded a more precise look at the pathology of SWS. Magnetic resonance imaging and computed tomography are the imaging modalities most widely used, although single-photon emission computed tomography, positron emission tomography, and magnetic resonance spectroscopy are also of value. Plain skull x-rays and angiography are less useful. Plain skull x-rays illustrate the classic “tram-line” or “tram-track” calcifications but are not helpful in the
Treatment
Patients with SWS require consistent and thorough monitoring for development of glaucoma, seizures, headache, and strokelike episodes. Medical and surgical management of glaucoma associated with SWS continues to be challenging (Table 1). Lifelong medical treatment coupled with frequent surgeries is standard. The goal is to control intraocular pressure to prevent optic nerve damage. Medications should be administered to decrease the production of aqueous fluid or promote the outflow of aqueous
Prognosis
The prognosis in SWS varies widely. Although patients with widespread hemispheral disease or bihemispheric disease are at greatest risk for neurologic complications, many function virtually normally. Clearly, a subgroup of patients with limited central nervous system involvement as defined by neuroimaging studies has a particularly malignant clinical course, with intractable epilepsy, headache, strokelike episodes, and cognitive deterioration. A longitudinal study must be conducted to identify
Acknowledgements
The authors thank the Kaufman family for support of this project, and Danny Liu and Melanie Fridl Ross, MSJ, ELS, for editorial assistance.
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