Posterior quadrant disconnection surgery for Sturge-Weber syndrome.

OBJECTIVE: Some patients with Sturge-Weber syndrome (SWS) need epilepsy surgery for adequate seizure control and prevention of psychomotor deterioration. The majority of patients with SWS have leptomeningeal angioma located over the temporal, parietal, and occipital lobes. We applied posterior quadrant disconnection surgery for this type of SWS with intractable seizure. We evaluated the efficacy of this procedure in seizure control and psychomotor development. METHODS: Ten patients who were surgically treated using the posterior quadrantectomy (PQT) were enrolled in this study. Surgical outcome was analyzed as seizure-free or not at 2 years after surgery. Psychomotor development was evaluated by the scores of mental developmental index (MDI) and psychomotor developmental index (PDI) in the Bayley Scales of Infant Development II preoperatively, and at 6 and 12 months after the PQT. RESULTS: Eight of 10 patients were seizure-free. Patients without complete elimination of the angiomatous areas had residual seizures. Average MDI and PDI scores before the surgery were 64.8 and 71.6, respectively. Scores of MDI at 6 and 12 months after the PQT in seizure-free patients were 80.5 and 84.5, respectively (p < 0.01). PDI scores at these postoperative intervals were 87.3 and 86.4, respectively (p < 0.05). Patients with residual seizures did not improve in either MDI or PDI. SIGNIFICANCE: The PQT achieved good seizure control and improved psychomotor development in patients with SWS. The complete deafferentation of angiomatous areas is required for seizure-free results and psychomotor developmental improvement.

Whole cranial vault expansion by continual occipital and fronto-orbital distraction in syndromic craniosynostosis.

BACKGROUND: In cases of surgery for syndromic craniosynostosis with posterior flattering, it is not possible to achieve sufficient expansion of the skull through fronto-orbital advancement alone. Although it is necessary to expand the occipital region, the surgery is risky and highly invasive. We applied the distraction osteogenesis technique for skull expansion and performed occipital expansion and fronto-orbital advancement in succession. METHODS: Three patients with syndromic craniosynostosis (2 with Crouzon syndrome, 1 with Pfeiffer syndrome) were treated in Juntendo University Hospital between 2002 and 2007. Using the distraction osteogenesis technique, we performed occipital advancement followed immediately by fronto-orbital advancement for 2 cases of Crouzon syndrome and performed fronto-orbital advancement followed by occipital advancement for a case of Pfeiffer syndrome. RESULTS: In all of the cases, we were able to perform bone extension of 25 mm or more and achieve sufficient skull expansion for both of the frontal and occipital regions. Within 1 year after the surgery, in all of the cases, favorable osteogenesis was observed in the distraction gap, and there were no bone defects. DISCUSSION: By using the distraction osteogenesis technique, the difficult procedure of occipital advancement can be performed relatively safely. In addition, as active expansion of the cranium is possible after the surgery, sufficient expansion of the cranium can be successfully performed to a degree that cannot be achieved through conventional methods. New bone is formed in the distraction gap, and there are no bone defects. The present method is extremely useful for skull formation in cases of syndromic craniosynostosis with posterior flattering.

Extent of Leptomeningeal Capillary Malformation is Associated With Severity of Epilepsy in Sturge-Weber Syndrome.

BACKGROUND: Individuals with Sturge-Weber syndrome (SWS) often expereince intractable epilepsy and cognitive decline. We hypothesized that the extent of the leptomeningeal capillary malformation (LCM) may correlate with the severity of neurological impairment due to SWS. We tested the hypothesis in a cross-sectional study of seizure severity and electroencephalographic (EEG) findings and a retrospective cohort study for surgical indications related to the extent of the LCM. METHODS: We enrolled 112 patients and classified them according to LCM distribution: (1) bilateral, (2) hemispheric, (3) multilobar, and (4) single lobe. Age at seizure onset, seizure semiology and frequency, and EEG findings were compared. Surgical indications were evaluated for each group by Fisher exact test, and predictors for surgery were evaluated by univariate and multivariate analyses. Therapeutic efficacy was evaluated by the SWS-Neurological Score (SWS-NS). RESULTS: The bilateral and hemispheric groups had early seizure onset (4.0 months old and 3.0 months old), frequent seizures (88.9% and 80.6% had more than one per month), focal-to-bilateral tonic-clonic seizures (88.9% and 74.2%), and status epilepticus (100% and 87.1%). The groups' EEG findings did not differ substantially. Surgical indications were present in 77.8% of the bilateral, 88.1% of the hemispheric, and 46.8% of the multilobar groups. Seizure more than once per month was a predictor of surgical treatment. Seizure subscore improved postoperatively in the hemispheric and multilobar groups. Even after surgical treatment, the bilateral and hemispheric groups exhibited higher SWS-NSs than members of the other groups. CONCLUSION: Our study demonstrated a strong association between extensive LCM and epilepsy severity. Surgical intervention improved seizure outcome in patients with SWS with large LCMs.

[Sturge-Weber syndrome].

Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by intracranial leptomeningeal angioma, facial port-wine nevi, and glaucoma. Diagnosis is relatively easy because of the facial angioma and MRI findings, but evaluating severity is difficult. Predictors of SWS's prognosis are epilepsy and brain dysfunction under the leptomeningeal angioma. Therefore, active research has been intensely conducted with electrophysiological, neuroimaging, and neuropsychological methods. Final goals of this research are to define the therapeutic strategy. In this review, we focus on recent advances in neuroimaging and EEG analysis to discover the epileptogenesis, the most adequate therapy, and prospective topics of investigation in SWS.

Seizures continue even after prompt anti-epileptic drug medication in Sturge-Weber syndrome--study from prolonged video electrocoticography, a case report.

INTRODUCTION: The mechanism of epilepsy in Sturge-Weber syndrome (SWS) has not been elucidated, since it is difficult to detect epileptic discharges on scalp EEG records. To determine the electrophysiological characteristics of SWS, we evaluated epileptic discharges using intracranial electrocorticography (ECoG). CASE SUMMARY: We report a 1-year and 3-month-old boy diagnosed with SWS whose psychomotor development was impaired despite good control of his seizures with several antiepileptic drugs (AEDs). Prolonged video ECoG monitoring was performed to determine whether subclinical seizures had induced his developmental delay. DISCUSSION: Frequent seizures were detected as motionless staring and respiratory distress. His seizures originated from multiple areas along the Sylvian fissure, propagated very slowly, and lasted for 10 to 30 min. Left hemispherotomy was performed, and he was confirmed to be completely seizure-free after surgery. Our findings indicate that long-lasting and barely discernible seizures may continue in patients with SWS who appear to have good control of epilepsy with AEDs.

Cranial expansion with distraction osteogenesis for multiple-suture synostosis in school-aged children.

Multiple-suture synostosis is a rare condition among patients with craniosynostosis. Their cranial shapes demonstrate various types depending on the fused sutures, and it tends to be less consistent in comparison to single-suture synostosis. The details regarding surgical intervention for multiple-suture synostosis have rarely been documented. This report presents 4 patients with nonsyndromic multiple-suture synostosis who were incidentally diagnosed as school-aged children. The age at the time of the surgery ranged from 7 to 11 years. All of the patients demonstrated digital printings on radiographs and an increased intracranial pressure. They underwent cranial expansion using the technique of distraction osteogenesis. In 3 patients, a pi osteotomy was performed; however, the osteotomized bone was not detached from the underlying dura. Four distraction devices were applied. In one patient, an occipital osteotomy was performed, and 2 distraction devices were applied. Distraction was completed in all patients, and the results of surgery were satisfactory. Large bony gaps are generally created by the conventional course of skull expansion. In older children, the bone defects are optimally treated by bone grafts. To harvest bone grafts, it is preferable to split the cranial bone. In this series, however, the calvarial bones were so thin that they could not be split. Therefore, the technique of distraction osteogenesis was used. Cranial distraction is a reliable and less invasive modality. In addition, it can allow for skull expansion without bone grafting in school-aged children.

Analysis of Epileptic Discharges from Implanted Subdural Electrodes in Patients with Sturge-Weber Syndrome.

OBJECTIVE: Almost two-thirds of patients with Sturge-Weber syndrome (SWS) have epilepsy, and half of them require surgery for it. However, it is well known that scalp electroencephalography (EEG) does not demonstrate unequivocal epileptic discharges in patients with SWS. Therefore, we analyzed interictal and ictal discharges from intracranial subdural EEG recordings in patients treated surgically for SWS to elucidate epileptogenicity in this disorder. METHODS: Five intractable epileptic patients with SWS who were implanted with subdural electrodes for presurgical evaluation were enrolled in this study. We examined the following seizure parameters: seizure onset zone (SOZ), propagation speed of seizure discharges, and seizure duration by visual inspection. Additionally, power spectrogram analysis on some frequency bands at SOZ was performed from 60 s before the visually detected seizure onset using the EEG Complex Demodulation Method (CDM). RESULTS: We obtained 21 seizures from five patients for evaluation, and all seizures initiated from the cortex under the leptomeningeal angioma. Most of the patients presented with motionless staring and respiratory distress as seizure symptoms. The average seizure propagation speed and duration were 3.1 ± 3.6 cm/min and 19.4 ± 33.6 min, respectively. Significant power spectrogram changes at the SOZ were detected at 10-30 Hz from 15 s before seizure onset, and at 30-80 Hz from 5 s before seizure onset. SIGNIFICANCE: In patients with SWS, seizures initiate from the cortex under the leptomeningeal angioma, and seizure propagation is slow and persists for a longer period. CDM indicated beta to low gamma-ranged seizure discharges starting from shortly before the visually detected seizure onset. Our ECoG findings indicate that ischemia is a principal mechanism underlying ictogenesis and epileptogenesis in SWS.

Effects of dance on motor functions, cognitive functions, and mental symptoms of Parkinson's disease: a quasi-randomized pilot trial.

OBJECTIVE: To examine the effectiveness of dance on motor functions, cognitive functions, and mental symptoms of Parkinson's disease (PD). DESIGN: This study employed a quasi-randomised, between-group design. SETTING: Dance, PD exercise, and all assessments were performed in community halls in different regions of Japan. PARTICIPANTS: Forty-six mild-moderate PD patients participated. INTERVENTION: Six PD patient associations that agreed to participate in the study were randomly assigned to a dance group, PD exercise group, or non-intervention group. The dance and PD exercise groups performed one 60-min session per week for 12 weeks. Control group patients continued with their normal lives. All groups were assessed before and after the intervention. MAIN OUTCOME MEASURES: We used the Timed Up-and-Go Test (TUG) and Berg Balance Scale (BBS) to assess motor function, the Frontal Assessment Battery at bedside (FAB) and Mental Rotation Task (MRT) to assess cognitive function, and the Apathy Scale (AS) and Self-rating Depression Scale (SDS) to assess mental symptoms of PD. The Unified Parkinson's Disease Rating Scale (UPDRS) was used for general assessment of PD. RESULTS: When comparing results before and after intervention, the dance group showed a large effect in TUG time (ES=0.65, p=0.006), TUG step number (ES=0.66, p=0.005), BBS (ES=0.75, p=0.001), FAB (ES=0.77, p=0.001), MRT response time (ES=0.79, p<0.001), AS (ES=0.78, p<0.001), SDS (ES=0.66, p=0.006) and UPDRS (ES=0.88, p<0.001). CONCLUSIONS: Dance was effective in improving motor function, cognitive function, and mental symptoms in PD patients. General symptoms in PD also improved. Dance is an effective method for rehabilitation in PD patients.

Effect of C-type natriuretic peptide (CNP) on water channel aquaporin-4 (AQP4) expression in cultured astrocytes.

Astrocytes play a vital role in volume and ion control in the central nervous system. C-type natriuretic peptide (CNP) may be involved in neuronal-glial signaling, but its physiological role has not yet been characterized. In our study, we found that CNP can regulate the water channel aquaporin-4 (AQP4) expression in cultured astrocytes. Using immunocytochemistry and enzyme immunoassay, we found that primary neuronal cultures exhibited a high level of reactivity to CNP, and that cultured astrocytes exhibited reactivity to cyclic GMP after exposure of CNP. Using RT-PCR, immunoblot and immunocytochemistry, we detected increased levels of AQP4 mRNA and AQP4 immunoreactivity in the cultured astrocytes after they had been exposed to CNP or cyclic GMP. These results suggest that CNP, which is mainly produced by the neurons, effects the level of AQP4 in the astrocytes. Therefore, CNP may be a regulator of water homeostasis in the central nervous system.

Solitary epicranial neurofibroma with NF1-related germline mutation: case report.

A 33-year-old male became aware of a painless soft mass in the left occipital region. His medical and family history were unremarkable for neurofibromatosis type 1 (NF1) or other genetic disorders. Physical examination showed no signs of NF1. Neurological and ophthalmological examinations found no abnormality. Cranial computed tomography showed an isodense mass located subcutaneously with irregular deformities in the adjacent occipital bone. Magnetic resonance (MR) imaging demonstrated that the lesion, 7.5 × 5.5 cm in diameter, was hypointense both on T1- and T2-weighted images and intensely enhanced after gadolinium infusion. The patient requested to remove the large mass. The subcutaneous tumor was well circumscribed, encapsulated, and less vascular, and resected en bloc. The histological diagnosis was neurofibroma without findings of cell atypia, whereas genomic exploration identified abnormal gains in NF1 gene, and resultant absence of neurofibromin, a protein coded on NF1 gene. Solitary neurofibromas in "clinically" non-NF1 patients may originate from the genomic changes in NF1 gene.

Skull base chondroid chordoma: atypical case manifesting as intratumoral hemorrhage and literature review.

OBJECTIVE: Chondroid chordoma (CC) is a rare but commonest subtype of chordoma with little reported clinical information. The present study summarizes and updates present knowledge of CC. METHODS: Literature search for demographic data and clinical appearance of cranial CCs except for those entirely confined to the sinonasal region. RESULTS: A total of 48 English language papers published from 1968-2013 were retrieved describing 132 CCs as skull base tumors. The male-to-female ratio was 1:1. The mean age at diagnosis was 43 years, predisposing to the third to fifth decades of life. The clival (34%) and spheno-occipital (29%) regions were the most frequent sites of origin followed by the sellar (12%) and sphenoid (5%) regions. Intratumoral calcification and bony erosion were identified as the characteristic neuroimaging findings. Surgical resection by the transcranial, transsphenoidal, transnasal, transpharyngeal, or transpalatal route with or without adjuvant radiotherapy was the main treatment option. The initial treatment outcome was satisfactory in 82% of cases with considerably better prognosis compared with typical chordomas. CONCLUSION: CC is a distinct entity to be discriminated from the typical type of chordoma. There are no distinguishing features on magnetic resonance imaging between CC and typical chordoma. Intratumoral calcification and concurrent bony erosion on neuroimaging should suggest the possibility of CC. Extensive surgical resection and adjuvant radiotherapy can achieve satisfactory outcome.

Sturge-Weber syndrome with spontaneous intracerebral hemorrhage in childhood.

A girl aged 2 years 10 months suddenly went into a deep coma and demonstrated left hemiplegia. At birth, she had exhibited a left-sided facial port-wine stain typical of Sturge-Weber syndrome (SWS) and involving the V1 and V2 distributions of the trigeminal nerve. Computed tomography showed a right thalamic hemorrhage with acute hydrocephalus. Magnetic resonance imaging with Gd enhancement 8 months before the hemorrhage had shown a patent superior sagittal sinus (SSS) and deep venous system. Magnetic resonance imaging and MR angiography studies 2 months before the hemorrhage had revealed obstruction of the SSS and right internal cerebral vein (ICV). Given that a digital subtraction angiography study obtained after the hemorrhage did not show the SSS or right ICV, the authors assumed that impaired drainage was present in the deep venous system at that stage. The authors speculated that the patient's venous drainage pattern underwent compensatory changes because of the occluded SSS and deep venous collectors, shifting outflow through other cortical venous channels to nonoccluded dural sinuses. Sudden congestion (nearly total to total obstruction) of the ICV may have caused the thalamic hemorrhage in this case, which is the first reported instance of pediatric SWS with intracerebral hemorrhage and no other vascular lesion. Findings suggested that the appearance of major venous sinus occlusion in a child with SWS could be a warning sign of hemorrhage.

Differences in acetazolamide vasoreactivity in patients with acute and chronic occlusion of the internal carotid artery.

Using a xenon-enhanced computed tomography (Xe-CT) system, we measured cerebral blood flow (CBF) and acetazolamide vasoreactivity in 3 major vascular territories, the thalamus and putamen on both sides in 3 groups of patients undergoing the balloon occlusion test (BOT), with internal carotid occlusion (ICO) and with open carotids.In the ICO group, although the CBFs on the occluded side were similar to those in the BOT group, the vasoreactivity was significantly higher. The CBFs on the contralateral side were lower than those in the BOT group, but the vasoreactivity was similar. The vasoreactivity of the MCA on the occluded side mostly correlated with that in the other areas, similar to the results obtained in the open carotid group, although it was poorly correlated with other areas in the BOT group. Carotid artery occlusion may reduce CBF in a large area with restoration of vasoreactivity in the chronic stage.

Treatment of unilateral lambdoid synostosis with cranial distraction.

The accurate diagnosis and treatment of posterior plagiocephaly have been a source of controversy. The unilateral lambdoid synostosis that is characterized by flattening of ipsilateral occipital bone is a rare type of craniosynostosis. An 8-month-old infant with unilateral lambdoid synostosis is reported. The patient exhibited right occipital flattening, mastoid bulge, and right frontal bone prominence, with the right auricle displaced anteroinferiorly on gross examination. A Towne projection radiograph of the skull and three-dimensional computed tomography scans revealed that the right lambdoid suture was prematurely fused. Correction of the cranial shape was performed using distraction osteogenesis combined with a barrel stave osteotomy. Significant improvement in the skull was observed 1 year after surgery.