Elsevier

Pediatric Neurology

Volume 30, Issue 5, May 2004, Pages 303-310
Pediatric Neurology

Review article
Sturge-Weber syndrome: A review

https://doi.org/10.1016/j.pediatrneurol.2003.12.015Get rights and content

Abstract

Sturge-Weber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. The disease is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. Facial cutaneous vascular malformations, seizures, and glaucoma are among the most common symptoms and signs. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent strokelike episodes. In this review, we describe the syndrome's characteristic features, clinical course, and optimal management.

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.

Section snippets

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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