Pediatric Sturge-Weber Syndrome Treatment & Management

This includes anticonvulsants for seizure control, symptomatic and prophylactic therapy for headache, glaucoma treatment to reduce the IOP, and laser therapy for PWS.

• Seizures: Since the seizures are typically focal, an anticonvulsant with efficacy in focal seizures is preferable (see anticonvulsant medications).
• Glaucoma: The goal of treatment is control of IOP to prevent optic nerve injury (please see the articles on glaucoma in eMedicine Ophthalmology journal). Medications either decrease the production of aqueous fluid or promote the outflow of aqueous fluid. Beta-antagonist eye drops reduce the production of aqueous fluid, adrenergic eye drops and miotic eye drops reduce IOP by promoting drainage, and carbonic anhydrase inhibitors decrease IOP by decreasing production of aqueous fluid.
• Headaches: Recurrent headaches can be treated with symptomatic and prophylactic medications (see Migraine Headache).

  • Kossoff et al evaluated 68 patients with SWS regarding headaches, identified through the Sturge-Weber Foundation.^[79] Mean onset of the headaches was 8 years. Fifty-five of the 68 patients had epilepsy as well. Twenty-two of these patients perceived that the headaches were a more significant problem compared to their epilepsy. A positive family history of headaches was seen in 37 of these patients.
  • Most of the patients were using only abortive treatment, mainly acetaminophen and ibuprofen, while only 15 were tried on preventative agents, including gabapentin, valproate, and amitriptyline (none were on beta-adrenergic blockers). The authors suggested that the headaches may be undertreated.
  • Kossoff et al also reported on 104 patients with SWS and migraine headaches, regarding self-reported treatment patterns through a questionnaire. In SWS, triptans and preventative agents appear to be effective for the headaches.^[80]
• Stroke-like events: Aspirin has been used for headaches and to prevent vascular disease, although it typically is used in patients who have had neurologic progression or recurrent vascular events.^[81] Aspirin needs to be used with extreme caution in children because of the concern with Reye syndrome, and the risks and benefits need to be carefully weighed. Thomas-Sohl, Vaslow, and Maria have recommended 3-5 mg/kg/d of aspirin for stroke-like events, and they also recommended varicella and yearly influenza immunizations because of association of varicella and influenza infections in Reye syndrome.^[23] Maria et al reported a decreased incidence of strokelike events in 20 patients who received aspirin^[15] ; of 119 strokelike events, 31 occurred in patients treated with aspirin, whereas 88 of these events occurred in those not treated with aspirin. The authors suggested further investigation of aspirin treatment in SWS.
• PWS: These need to be evaluated within the first week of life and differentiated from hemangioma.

  • PWS are treated with laser therapy, which should start as soon as possible, since multiple treatments are needed and earlier treatment may reduce the number needed. Also, the smaller the lesion initially, the fewer the laser flashes needed to remove the lesion.^{[82, 83]}
  • Troilius et al reported on the potential psychological benefits from early treatment of PWS.^[84] In a survey of patients with PWS, 75% reported that the PWS had affected their lives negatively, 62% were convinced that their lives would improve if the PWS were removed, 47% suffered low self-esteem, and 28% said that the PWS made their school life and education more difficult. No persistent pigmentation changes or posttreatment scarring were reported after laser therapy.

Surgery is desirable for refractory seizures, glaucoma, and specific problems related to various associated disorders, such as scoliosis.^[85]

• Seizures, refractory seizures

  • Surgical options are available for seizures refractory to medical treatment, especially for focal seizures^[86] . Surgical procedures include focal cortical resection, hemispherectomy, corpus callosotomy, and recently, vagal nerve stimulation (VNS).^[87] SWS is considered one of the catastrophic epilepsies which, according to Holmes, result in poor seizure control and developmental outcome if not controlled early^[88] ; however, criteria for medical intractability should be fulfilled before considering surgery.
  • Early surgery has been advocated specifically in SWS to improve outcome and prevent refractory seizures, developmental delay, and hemiparesis. In the era prior to modern neuroimaging, Alexander and Norman and, later, Alexander suggested exploratory craniotomy and lobectomy if the diagnosis was confirmed, even before seizures started, because they found that early onset seizures were associated with mental retardation.^[89]
  • Hoffman et al and then Ogunmegan et al later advocated early hemispherectomy for seizures.^{[90, 91]} Therefore, the need for surgery, its timing, and the appropriate surgical procedure are important considerations. Erba and Cavazzuti estimated that 40% of patients with SWS could become epilepsy surgery candidates, excluding those with either good seizure control or bilateral disease.^[24]
  • The chance of achieving seizure control with medical therapy in SWS varies. Depending on the series, complete seizure control has been achieved in 10-50% of patients, and refractory seizures occur in 11-83% (see Table 4 at the end of the Surgical Care section). Results vary by the patient population seen at different centers, with a higher incidence of medical failures reported by surgical centers. However, according to Arizmanoglou, even data from the surgical centers indicate that good seizure control is achieved in one third to one half of the patients seen at these centers.^[92]
  • The age of seizure onset may be a prognostic sign for ultimate seizure control.
    • Roach believes that seizure onset in patients younger than 2 years is more likely to be associated with refractory seizures and developmental problems.^[19] The data from Bebin and Gomez, Oakes, Pascual-Castroviejo et al, and Sujansky and Conradi support this.^{[33, 26, 34, 17]} However, Maria et al divided their patients into 2 groups by age for a longitudinal study—those aged 1-3 years versus those aged 10-22 years—and found no difference in clinical outcomes with early onset seizures.^[15]
    • Even with seizure onset within the first year, Erba and Cavazzuti reported satisfactory control in 50%, with 30% seizure free for at least 2 years, and in the others, 17% had an average of 1 seizure per month, and 33% were considered to have poorly controlled seizures, defined as greater than 1 seizure per week.^[24] Therefore, early seizures may not predict either the severity of subsequent epilepsy or severe mental retardation.
  • Predictors of poor outcome include the extent of the LA, a refractory seizure disorder, and relapsing or permanent motor deficits. Factors predicting a poor outcome (or indicating surgery) include the following:
    • Early seizure onset
    • Extensive LA
    • Medically refractive seizures
    • Relapsing or permanent motor deficits
    • Headaches or mild trauma associated with transient motor deficits
    • Evidence of progressive neurologic damage
    • Focal seizures with subsequent generalization
    • Increasing seizure frequency and duration
    • Increasing duration of postictal deficits
    • Increasing focal or diffuse atrophy
    • Progressive atrophy or calcifications
    • Development of hemiparesis
    • Deterioration in cognitive functioning (loss of intellectual abilities)
  • Erba and Cavazzuti recommended surgery when seizures, as well as other neurologic events, such as headaches or mild head trauma, are associated with functional neurologic deficits, the presence of which indicates an impairment in cortical perfusion.^[24]
  • Arzimanoglou and Aicardi treat seizures initially with anti-epileptic drugs (AEDs), no matter what the age of onset, and recommend surgery when seizures are intractable or when evidence of progressive cortical damage is noted. The appropriate surgical procedure is determined individually by clinical course, EEG, and neuroimaging.^{[92, 93]}
  • Factors suggesting a progressive course include (1) initial focal seizures progressing to frequent secondarily generalized seizures, (2) increasing seizure frequency and duration despite AEDs, (3) increasing duration of a transient postictal deficit, (4) increase in focal or diffuse atrophy determined by serial neuroimaging, (5) progressive increase in calcifications, (6) development of hemiparesis, and (7) deterioration in cognitive functioning.
• Outcome of epilepsy surgery in SWS: Three centers have reported on groups of more than 10 patients—Hoffman et al from Toronto, Arzimanoglou and Aicardi from Paris, and the author's series from Children's Hospital, Boston (Table 5). Of the 32 patients from these groups who have had limited resection, 18 are seizure free, 10 have had an improvement, and 4 have had no improvement. Of 26 treated with hemispherectomy, 24 have been seizure free.

  • The group from Toronto has evaluated the relationship between seizure control and developmental outcome in 74 patients^[77] . Of these, 53 patients had seizures, which were refractory in 17 (32%) patients. The authors compared the ultimate developmental outcome (determined by intelligence quotient [IQ] score) of medical and surgical therapies in 50 patients, 17 patients who underwent surgery and 33 who were given medical therapy. Normal or borderline functioning was more common after surgical treatment (10 of 17 [58.8%] patients) than in medical treatment (11 of 33 [33.3%] patients, P < 0.05).
  • When surgery is considered, choice of appropriate procedure must be the main consideration. The epileptogenic region is located in cortex adjacent to the angioma, and electrocorticography (ECOG) may be needed. However, the LA usually covers the entire hemisphere, and even areas without angioma may be epileptogenic and therefore need resection to achieve seizure control. A focal cortical resection (a more limited resection) is done when the LA and, therefore, the epileptogenic region is smaller and more localized. This can be demonstrated preoperatively by localizing the area of seizure onset, either with surface EEG or ECOG (if invasive monitoring has been done), with a combination of both structural and functional neuroimaging, and with intraoperative ECOG.
  • Hemispherectomy is done when an extensive, unilateral epileptogenic region exists. When the epileptogenic region is smaller, a focal cortical resection (ie, a more limited resection) is preferable, since it is less likely to cause a neurologic deficit. Hoffman reports that focal disease responds well to resection, ECOG identifies adjacent epileptogenic cortex, and hemispherectomy produces a significant improvement in outcome, leading to normal intelligence and a chance of becoming seizure free greater than 90%.
  • Residual seizures, however, are more likely with a more limited resection than with hemispherectomy. Gilly et al reported a 30% failure rate after limited resection^[94] , and in the combined data from 3 surgical centers, 12.5% (see Table 5 at the end of the Surgical Care section) of those patients who underwent a limited resection had no improvement.
  • Kossoff et al evaluated the outcome of hemispherectomy in 32 patients with SWS, using a questionnaire; these patients were identified through the Sturge-Weber Foundation^[95]
    • Although this study was limited because of the volunteer basis of the returned questionnaires, still a larger number of patients were included to the previous studies. Patients had hemispherectomy between 1979 and 2001, and mean age of seizure onset was 4 months, median age of surgery was 1.2 years. Sixteen had anatomical hemispherectomy, 14 had functional hemispherectomy, and 2 had hemidecortications performed in 18 different centers throughout the world. Fifteen had complications in the immediate postoperative period, including hemorrhage, infection, and severe headaches, and they underwent reoperation due to persistent seizures, shunting, or hypertension. No deaths occurred.
    • In this study, 81% became seizure free, with 53% off antiepileptic drugs. The type of surgery (anatomical hemispherectomy vs functional hemispherectomy vs hemidecortication) did not influence outcome. Age of seizure onset did not predict seizure freedom, while older age of surgery had a positive correlation. Postoperative hemiparesis was not worse compared with before the surgery. Cognitive outcome was not related to age at surgery, side of surgery, or seizure freedom.
  • The Toronto group suggested that hemispherectomy is more successful if done during infancy, since earlier seizure control helps to preserve the function of the normal hemisphere.^{[77, 90]} They now perform a hemispherectomy, resulting in better neurologic recovery, even with some residual finger movement. Alternatively, if the patient is not a candidate for a limited resection or hemispherectomy, such as when disease is bilateral, corpus callosotomy can be done or VNS can be administered. VNS has been shown to be effective for focal seizures; its mechanism of action is a putative increase in CNS inhibitory activity.
  • In order to address these issues, the Sturge-Weber Foundation recruited a task force to evaluate epilepsy surgery in SWS. The following is a summary of recommendations for surgery in SWS, modified to include VNS:
    • Hemispherectomy should not be done in every patient with SWS solely because of the emphasis on increasingly early surgery. Surgery is appropriate only for medically refractory seizures.
    • Patients with intractable seizures and very localized lesions should have a limited resection that preserves as much normal tissue as possible.
    • Video EEG and both structural and functional neuroimaging should be used to define the extent of the lesion and the site of seizure origin.
    • Corpus callosotomy is reserved for patients with intractable atonic or tonic seizures leading to secondary injury who are not candidates for more definitive surgery.
    • Surgery should be done only in a center with an ongoing pediatric epilepsy surgery program.
    • Although the benefit of surgery for refractory seizures is accepted generally, additional work is needed to evaluate the natural history of the syndrome and the potential benefits and risks of surgery.
    • VNS can be done in those who are not candidates for other surgical procedures.
  • Summary: Data on the natural history of the disease are not yet sufficient to advocate hemispherectomy unless refractory seizures occur.
• Glaucoma surgery^[42] : If medications are unable to lower IOP, surgery may be beneficial. Trabeculectomy increases the release of aqueous fluid from the anterior chamber and opens the outflow pathway. Goniotomy is similar but is done through the eye. A Molteno valve can be placed (similar to a shunt), and cyclodestructive procedures with either freezing or laser decrease the production of aqueous fluid.

Table 4. Seizure Control in Sturge-Weber Syndrome (Open Table in a new window)

Table 5. Surgical Results of Hemispherectomy and Limited Resection from 3 Centers (Open Table in a new window)

Primary-care providers should be educated about SWS. Consultations are needed from a neurologist, an epileptologist (especially if seizures are intractable), a dermatologist, a plastic surgeon, a psychologist, a psychiatrist, a neuropsychologist, and a neuroendocrinologist.

No special diet is needed.

No restrictions are needed except as mandated by associated conditions.