Surgical treatment of epilepsy in Sturge-Weber syndrome in children.

OBJECT: The authors sought to analyze the success rate of surgery in the management of medically intractable epilepsy in children with Sturge-Weber syndrome and to determine whether the extent and timing of surgery affected seizure and developmental outcomes. METHODS: The authors performed a retrospective review of 27 children who underwent surgery at their institution for medically resistant epilepsy, and they examined the outcomes with regard to epilepsy control and neuropsychological development. Seventeen children (63%) experienced onset of their epilepsy when they were younger than 1 year of age. These patients were significantly more likely to have hemiparesis (p < or =0.001) and status epilepticus (p < or = 0.001) and be developmentally delayed (p < or = 0.025) than children whose epilepsy started later in life. Eight patients underwent a hemispherectomy (either anatomical or functional), and complete resolution of epilepsy was noted in all. Of the 19 patients in whom a focal resection was performed, 11 (58%) became seizure free. The 10 children in whom there was residual disease were more likely to have continuing epilepsy than the nine whose lesions were completely excised (p< or = 0.05). Seventeen children exhibited improvement in their developmental status following surgery. This improvement was significantly affected by completeness of resection (p< or = 0.05) and age at surgery (p< or = 0.009). Seizure freedom per se was not affected by the timing of surgery. CONCLUSIONS: Medically intractable epilepsy in children can be treated effectively by surgery. The degree of resection or disconnection of diseased tissue, but not patient age at the time of surgery, is an important factor in achieving epilepsy control. Early surgery is more likely to improve developmental outcome.

Treatment of suprasellar cysts and patient outcome.

OBJECT: The authors sought to determine the natural history of and optimal treatment for suprasellar cysts (SSCs). METHODS: Three hundred forty-two patients harboring intracranial cysts presented to the authors' neurosurgery unit between January 1986 and August 2004. The patients' records were reviewed to assess symptomatology, results of imaging studies, and outcome according to mode of treatment. Thirty-three patients (9.6%) were eligible for this study. Nine SSCs were diagnosed prenatally and 24 were identified postnatally (range 0 months-18.2 years, mean 5.6 years). The mean follow-up period was 66.8 +/- 44.6 months (standard deviation). Seven cysts were left untreated, six (66%) detected before birth and one (4.5%) after birth. Of the 26 patients who required surgery, three were admitted elsewhere for complications of shunt surgery. A ventriculocystostomy (VC) was performed in all three of these patients, but the treatment failed in two. The primary treatment in the remaining 23 children was: open fenestration in two patients, VC in seven, ventriculocystocisternostomy (VCC) in 13, and cystoperitoneal (CP) shunt in one patient. Both open fenestration procedures were successful, as was the CP shunt insertion. The success rate of primary endoscopic surgery, although not statistically significant, was higher for VCCs (11 [85%] of 13 patients) than for VCs (four [57%] of seven patients). None of the patients' preoperative endocrine disorders resolved postoperatively. The distribution of intellectual and developmental quotients paralleled the normal range. Intellectual performance was unrelated to patient-specific factors or to treatment modalities. CONCLUSIONS: Most SSCs are of moderate size, are stable and asymptomatic, and have a favorable outcome. Treatment is required when the cyst evolves or the patient is symptomatic, but endocrine disturbances alone are not an indication for surgery. When hydrocephalus is present, endoscopic fenestration is the primary treatment of choice. The goal of the procedure should be to open the cyst into both the ventricles and the cisterns. Intellectual capability after treatment at outcome is not related to age at diagnosis, initial or final cyst size, presence or absence of hydrocephalus, or type of endoscopic treatment.

Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families.

OBJECT: The origins of both sagittal synostosis (scaphocephaly) and metopic synostosis (trigonocephaly) remain unclear. Genetic and environmental factors probably play a role. Twin and family data of patients with these conditions are presented. METHODS: Records of 860 patients with scaphocephaly and 394 with trigonocephaly were examined for prevalence of twin birth and family history. Concordance rates of disease in monozygotic (MZ) and dizygotic (DZ) twins were compared. A family history of disease was present in 5.7% of children with scaphocephaly and in 6.8% with trigonocephaly. The frequency of twins was 4.2% in sagittal synostosis and 6.8% in metopic synostosis, which is higher than in the normal population. Twenty-eight of 38 twin pairs with a scaphocephalic proband were identified to be DZ and 10 were confirmed to be MZ (MZ/DZ ratio 0.36). Twenty of 27 twin pairs with trigonocephaly were DZ and seven were MZ (MZ/DZ ratio 0.35). Concordance rates were higher in the MZ group, 30% for scaphocephaly and 43% for trigonocephaly (chi2 = 14.4091, p = 0.0001). There was a strong prevalence of boys, with a frequency of 79.1% with scaphocephaly and 75.8% with trigonocephaly. Twinning was more frequent among affected boys in both groups. CONCLUSIONS: A midline craniosynostosis is more likely to develop in twins compared with singletons. A genetic component is supported by the higher risk in MZ twins. The presence of an environmental component is reinforced by the high rate of twinning, the normal MZ/DZ ratio, and a less than 100% concordance rate in MZ twins.