Agenesis of the Corpus Callosum and Aicardi Syndrome: A Neuroimaging and Clinical Comparison.

BACKGROUND: Agenesis of the corpus callosum can occur in individuals with epilepsy, either in isolation or as part of various neurological conditions, such as Aicardi syndrome. In this study, we evaluated the clinical and neuroradiological differences between children with nonsyndromic agenesis of the corpus callosum and those with Aicardi syndrome. METHODS: We evaluated 31 children with epilepsy and agenesis of the corpus callosum (11 males, 20 females), 14 of whom had Aicardi syndrome (all females). We compared their clinical evaluations, radiological and electrophysiological findings, treatments, and their outcome. RESULTS: Median age at seizure onset was lower in the Aicardi syndrome group compared with nonsyndromic agenesis of the corpus callosum (two versus five months, P = 0.006). The developmental impairment in terms of verbalization and ambulation was significantly worse in patients with Aicardi syndrome. The severity of magnetic resonance imaging (MRI) and glucose metabolism positron emission tomography (PET) involvement was more extensive in children with Aicardi syndrome than in nonsyndromic agenesis of the corpus callosum. In both groups, the PET scan showed a much more extensive area of involvement than suggested by the MRI scan. Four children underwent epilepsy surgery with significant improvement, but were not seizure free. Outcome was worse in those with PET showing abnormalities in the nonsurgical hemisphere despite normal appearance on MRI. All children who did not undergo surgery also continued to have seizures at last follow-up. CONCLUSIONS: Children with Aicardi syndrome have earlier seizure onset, worse developmental outcome, and larger areas of brain abnormalities on neuroimaging compared with nonsyndromic agenesis of the corpus callosum patients. PET reveals larger area of abnormalities, compared with MRI. Although epilepsy surgery in agenesis of the corpus callosum may offer some palliative benefit in seizure frequency, none of our patients became seizure free.

Aicardi syndrome: epilepsy surgery as a palliative treatment option for selected patients and pathological findings.

The optimal treatment for medically refractory epilepsy in Aicardi syndrome (AS) is still unclear. Palliative surgical treatment, including vagus nerve stimulation and corpus callosotomy, has therefore been used. There is limited data on the role of resective epilepsy surgery as a treatment choice in patients with AS. Here, we describe the seizures, anatomo-pathological findings, and neurodevelopmental outcome of palliative epilepsy surgery in two children with AS who had resective epilepsy surgery at the Cleveland Clinic. The related literature is also reviewed. Case 1 had a left functional hemispherectomy and was free of seizures and hypsarrhythmia for six months after surgery. Her gross motor skills improved after surgery. Outcome at 43 months was 1-3 isolated spasms per day. Case 2 had a right fronto-parietal lobectomy. Her seizures improved in frequency and severity, but remained daily after epilepsy surgery. Neurodevelopment changes included improved alertness and recognition of caregivers. This patient died 21 months after epilepsy surgery of unclear causes. Surgical pathology in both cases showed focal cortical dysplasia associated with other findings, such as nodular heterotopia and polymicrogyria. Epilepsy surgery could be an alternative palliative treatment choice in selective cases of AS, but studies on a larger patient cohort are needed to identify the possible role of surgery in children with AS. The complexity of the pathological findings may offer an explanation for the severity of seizures in AS.

[Repeated Anesthesia Management in a Patient with Aicardi Syndrome].

Aicardi syndrome is a rare hereditary disorder that develops in only girls with the trilogy of nutatory epilepsy, callosal agenesis and chorioretinopathy. We experienced general anesthesia twice for a patient with Aicardi syndrome in addition to heavy mental retardation. She underwent surgical correction for cleft lip and palate at 6 months of age and at 2 years of age, respectively. Anesthesia was induced slowly with inhalation of nitrous oxide, oxygen and sevoflurare. After securing an intravenous route, midazolam, thiopental and vecuronium were administered and intubated orally. Anesthesia was maintained with isoflurane safely. Patients with Aicardi syndrome have a high risk of aspiration pneumonia caused by underdeveloped swallowing ability due to callosal agenesis. We should, therefore, pay attention to prevention of seizure and aspiration pneumonia during the perioperative period.

Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature.

PURPOSE: Aicardi syndrome (AS) is a severe neurodevelopmental disorder characterized by the triad of seizures, agenesis of corpus callosum, and chorioretinal lacunae. Seizures in AS are typically frequent, of various types, and refractory to medical therapy. Optimal treatment of seizures in AS remains undetermined. METHODS: We report a series of four patients with Aicardi syndrome who underwent surgical management of their epilepsy including two with corpus callosotomy (CC) of a partial corpus callosum and three with vagus nerve stimulator implantation. RESULTS: Seizure outcome was variable and ranged from near complete resolution of seizures to worsening of seizure profile. The most favorable seizure outcome was seen in a patient with partial agenesis of the corpus callosum treated with CC. CONCLUSIONS: Seizure outcome following CC or vagus nerve stimulation in patients with Aicardi syndrome is variable. Although palliative epilepsy surgery may result in improvement in the seizure profile in some patients, studies on larger patient cohorts are needed to identify the precise role that surgery may play in the multidisciplinary approach to controlling seizures in Aicardi syndrome.

Ictal high-frequency oscillations on scalp EEG recordings in symptomatic West syndrome.

OBJECTIVES: High-frequency oscillations (HFOs) on intracranial electroencephalography (EEG) recordings have been reported to be useful to identify the epileptogenic zone in intractable epilepsy. We investigated whether the ictal HFOs on scalp EEG seen during spasms contributed to identification of the epileptogenic zone in symptomatic West syndrome (S-WS). METHODS: In S-WS, ictal scalp EEGs were recorded during a series of spasms. The HFOs associated with spasms were visualized in the temporally expanded EEG traces and subjected to time-frequency analysis. The results on the distribution of HFOs were compared with that of cortical lesions indicated by neuroimaging. RESULTS: In the 4 children examined, HFOs at 80-150 Hz preceded the clinical onsets of spasms. The maximum augmentation of these HFOs was larger than that of HFOs at 20-70 Hz. The regions of the maximum augmentation of HFOs at 80-150 Hz were identical to the lesions detected by neuroimaging. Two patients who underwent dissection of the area including the area with HFOs resulted in Engel class I. CONCLUSION: Ictal HFOs of spasms on scalp EEG showed a strong association with neuroimaging abnormalities presumed to be the epileptogenic zone in S-WS. Ictal HFOs can thus be a useful marker for exploring lesions for epilepsy surgery.

Surgical treatment of neurological scoliosis using hybrid construct (lumbar transpedicular screws plus thoracic sublaminar acrylic loops).

In the nineties, most spinal surgeons supported the validity of segmental spine instrumentation, but this procedure has progressively been abandoned because difficult and with a high risk of neurological complications, in favor of the Cotrel-Dobousset (CD). The CD instrumentation is based on segmentation of curves, thus improving the angular correction and actuates sagittal profile. Sublaminar acrylic loops (Universal Clamp) shows the same resistance to stress as steel or titanium alloy sublaminar wires. The simple procedure and the tensioning of the strips allows re-tensioning and progressive correction. The increased contact area, improves corrective forces, thus reducing the risk of laminar fractures. The aim of this study was to verify the validity of this spinal fixation implant in the surgical treatment of a consecutive series of patients affected by neurologic scoliosis. The authors treated surgically 84 patients affected by neurologic scoliosis with an average age of 14 years (range 10-17). Universal Clamps associated with Socore TM spinal assembly, transpedicular lumbar screws and thoracic hooks at the upper end of the curve were used. The etiology of disease was cerebral palsy in 81 cases, Friedreich ataxia in two cases and Aicardi syndrome in one case. The average preoperative angular value was 73° ± 16°. It was implanted a mean of seven Clamps for each procedure (range 5-9). The average percentage of correction was 72%. Mean operative time was 240 ± 30 min with mean blood loss of 1200 ± 400 ml. No intra-operative complications occurred. Mean follow-up was 36 months. At one-year follow-up the mean loss of correction was 7° ± 2° with no re-intervention required. This is the first report on treatment of neurological scoliosis with this hybrid construct (lumbar screws, thoracic acrylic clamps, thoracic hooks at the upper end of the curve). In this group of patients the Universal Clamps technique appeared safe and effective and its mechanical performance is comparable to all-level screws construct. Furthermore, the kyphotic component can be better managed in case of thoracic lordosis. The most important aspect of this technique is a short operative time and low vascular and neurologic risks combined with a satisfying stability in the short-postoperative period. Nevertheless, it is important to value results on a long-term follow-up to analyze correction loss, pseudoarthrosis, and mechanical failure of the strips.

Anesthetic management of a child with Aicardi syndrome undergoing laparoscopic Nissen's fundoplication: a case report.

Aicardi syndrome (AS) is a rare congenital syndrome and is characterized by the triad of infantile spasm, agenesis of the corpus callosum, and anomaly of chorioretinal lacunae. We here report a case of a patient with AS under general anesthesia. Although there is no report in which muscle relaxants were used in AS patients, vecuronium bromide was used for artificial pneumoperitoneum in this case. Careful management is important for AS patients during an operation that significantly affects respiratory function. In addition, it is possible that muscle relaxants be administered safely in AS patients. Careful monitoring such as epileptiform electroencephalogram and bispectral index monitors may be needed for the early detection of epileptic activities.