Sturge-Weber syndrome

 

Contributors

Anne M Comi MD, author. Dr. Comi, Director of the Sturge Weber Syndrome Center at the Kennedy Krieger Institute, has no relevant financial relationships to disclose.

 

Michael Johnston MD, editor. Dr. Johnston of the Johns Hopkins University and the Kennedy Krieger Children's Hospital has no relevant financial relationships to disclose.

 

Publication dates

Originally released April 13, 1994; last updated March 3, 2010; expires March 3, 2013

 

Historical note and nomenclature

  Schirmer first identified an association between bilateral facial angiomatous nevus and bilateral buphthalmos (eye enlargement) (Schirmer 1860). In 1879 Sturge described a relationship between facial and ocular angiomatous lesions and cerebral pathology that led to focal seizures, as well as hemiparesis contralateral to the facial angioma (Sturge 1879). Kalischer provided neuropathological confirmation of the cerebral lesions (Kalischer 1897). In 1922 Weber noted intracranial calcifications (Weber 1922).

Clinical manifestations

  Although more than two thirds of patients with Sturge-Weber syndrome present with a capillary malformation on only 1 side of the face,  approximately 25% exhibit the port-wine birthmark in the sensory territories of the 3 trigeminal branches of both sides (Pascual-Castroviejo et al 1993). Bilateral facial angiomas are generally more extensive. However, there is bilateral cerebral involvement in only one fourth of cases of bilateral facial port-wine birthmark. The most characteristic and constant ocular lesion is either buphthalmos or glaucoma (42% of all patients) (van Emelen 2000).

  The diagnosis of Sturge-Weber syndrome can frequently be suspected when a newborn is noted to have a facial port-wine birthmark. The diagnosis of Sturge-Weber syndrome means that the cutaneous port-wine birthmark is associated with either brain or eye involvement. This risk is about 25% when the skin port-wine birthmark involves most of the V1 ophthalmic distribution on the face. The risk of intracranial involvement increases to 33% to 50% with bilateral extensive facial port-wines stains.

  The capillary malformation may also present in other cutaneous zones as well as in the buccal mucous membranes. It is not uncommon to find extensive port-wine birthmarks on the neck, trunk, extremities, tongue, gingivae, pharynx, larynx, nasal mucosa, and paranasal sinuses. The port-wine birthmark is evident at birth with variable intensities of color. With age, the skin affected by the capillary malformation often becomes progressively darker and thicker. Teeth erupt earlier on the side of the port-wine birthmark in cases involving lesions that extend to territories of the second and third trigeminal branches. Long bones and facial bones adjacent to the port-wine birthmark may also show increased growth in relation to adjacent areas underlying normal skin. In a recent survey, facial overgrowth was reported in 60% of patients; 55% had soft tissue hypertrophy, most commonly of the lip, and 22% had skeletal hypertrophy (Greene et al 2009). In the clinical series, the maxilla was the most commonly enlarged facial bone.

  As many as 13% of the patients in the Mayo Clinic series lacked facial port-wine birthmarks but were considered to have Sturge-Weber syndrome on the basis of other criteria, particularly radiological findings (Gomez and Bebin 1987). Some reports consider leptomeningeal angiomas, even ones sparing the occipital lobe, to be a variant of Sturge-Weber syndrome (Comi et al 2003a).

  Clinical neurologic manifestations are principally those of epilepsy, learning disabilities, motor and sensory disturbances, and headaches. Seizures are usually the presenting neurologic symptom and are second only to the facial port-wine birthmark in calling recognition to the syndrome. Convulsions occur in approximately 75% of patients, and 75% of the seizures appear within the first year of life (Sujansky and Conradi 1995). The majority of seizures are partial motor or complex partial types. There are occasionally generalized major motor seizures, and rarely there are tonic and atonic infantile spasms (Ewen et al 2007; Barbagallo et al 2009) and myoclonic seizures. In more than 30% of cases, seizures begin with febrile episodes (Pascual-Castroviejo et al 1993). The duration of the seizures and resistance to pharmacologic control is related to the extent of the cerebral lesion. Many patients tend to display clustering of their seizures with long seizure-free intervals (Kossoff et al 2009); this pattern can make decisions regarding management difficult, particularly with regards to surgery.

  The progressive cortical hemiatrophy ipsilateral to the facial port-wine birthmark leads to contralateral spastic hemiparesis and hypalgesia. These deficits are often progressive and correspond to the degree of cerebral atrophy. Hemianopia also occurs but may be difficult to detect because of direct involvement of the eyes themselves. This may be accompanied by a considerable reduction in visual acuity.

  About 83% of patients with Sturge-Weber syndrome present with cognitive problems (Sujansky and Conradi 1995). Approximately 60% present with psychomotor retardation of variable degree, and profound intellectual disability is present in 32.5% (Pascual-Castroviejo et al 1993). The factors that contribute most to the presence of psychomotor delay and its severity are bilaterality of the cerebral lesions, the degree of cerebral atrophy, intractability of the seizure disorder, early onset of seizures, and the presence of multiple seizure types (Bebin and Gomez 1988). Recently, Reesman and colleagues reported that significant hemiparesis in these patients correlates with general adaptive dysfunction; this exam finding may be useful for identifying children in need of additional intervention (Reesman et al 2009).

 

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