Total callosotomy ameliorates epileptic activity and improves cognitive function in a patient with Miller-Dieker syndrome.

Miller-Dieker syndrome (MDS) is characterized by facial abnormalities and lissencephaly and is caused by a microdeletion in the region containing the LIS1 gene at chromosome 17p13.3. We report a case in which postnatal neuroimaging revealed severe lissencephaly. A 9-month-old boy presented with infantile spasms syndrome. Because of the refractory course of seizures and continued poor vitality, total corpus callosotomy was performed at 28 months of age. Intraoperative electroencephalogram (EEG) showed that the bilateral synchronous epileptiform discharges disappeared immediately after the disconnection. Postoperatively, the epileptic spasms (ES) in clusters disappeared, and single ES followed by focal seizures became the main symptom. The patient smiled more and became more responsive to stimuli. Postoperative scalp interictal EEG showed desynchronized multifocal spike and wave discharges with a marked decrease in the bilateral synchronous spike and wave discharges. Our findings suggest that the corpus callosum is involved in the mechanism ES in clusters in MDS-associated lissencephaly, and total callosotomy could be a therapeutic option.

Changes in interhemispheric coherence after total corpus callosotomy: a scalp EEG study in children with non-lesional generalized epilepsy.

PURPOSE: Coherence analysis in electroencephalography (EEG) allows measurement of the degree of consistency of amplitude between pairs of electrodes. Theoretically, disconnective epilepsy surgery should decrease coherence between corresponding areas. The study aimed to evaluate postoperative changes in interhemispheric coherence values after corpus callosotomy (CC). METHODS: Non-lesional, drug-resistant, generalized epilepsy patients who underwent total CC were retrospectively collected. To evaluate coherence, we divided the scalp interictal EEG into "baseline" and "discharge" states after excluding periods with artifacts. Interhemispheric coherence values were obtained between eight pairs of symmetrically opposite scalp electrodes in six different frequency bands. We analyzed both pre- and postoperative EEG sessions and calculated the percentage of difference (POD) in coherence values. RESULTS: We collected 13 patients and analyzed 2496 interhemispheric coherence values. Preoperative coherence values differed significantly between baseline and discharge states (p = 0.0003), but postoperative values did not (p = 0.11). For baseline state, coherence values were decreased after CC and median POD was - 22.3% (p < 0.0001). Delta frequency showed the most decreased POD (-44.3%, p = 0.0009). Median POD was lowest in the Fp1-Fp2 pair of electrodes. For discharge state, coherence values were decreased after CC and median POD was - 24.7% (p < 0.0001). Delta frequency again showed the most decreased POD (-55.9%, p = 0.0016). Median POD was lowest in the F7-F8 pair. CONCLUSION: After total CC, interhemispheric coherence decreased significantly in both baseline and discharge states. The most decreased frequency band was the delta band, which may be used as a representative frequency band in future studies.

Successful surgical treatment of oculomotor palsy due to schwannoma of the cavernous sinus in a 7-year-old girl: a case report.

Oculomotor nerve schwannoma in children not associated with neurofibromatosis is a rare disease, with 26 pediatric cases reported so far. There is no established treatment plan. A 7-year-old girl presented with oculomotor nerve palsy. Surgical reduction of the tumor combined with postoperative gamma knife surgery preserved the oculomotor nerve, improved oculomotor nerve function, and achieved tumor control during the observation period of 20 months. The combination of partial surgical resection and gamma knife surgery as a treatment strategy for oculomotor nerve schwannoma resulted in a good outcome.

Use of an Endoscope Reduces the Size of Craniotomy Without Increasing Operative Time Compared With Conventional Microscopic Corpus Callosotomy.

BACKGROUND AND OBJECTIVES: Corpus callosotomy (CC) is an epilepsy surgery that disconnects the commissural fibers at the corpus callosum, a structure that often plays a key role in propagating seizure activity. CC is particularly beneficial in patients with drop attacks. Less invasive endoscopic surgeries have recently been introduced to some fields of neurosurgery but have not yet become common in epilepsy surgery. Endoscopic surgeries offer better visualization and require a smaller corridor than conventional microscopic surgeries. Here, we presented a case series comparing endoscopic CC with microscopic CC. METHODS: This 2-center retrospective study involved patients who underwent all types of CC (anterior, total, or posterior CC [pCC]) between January 2014 and May 2022. We excluded patients who underwent additional craniotomy for electrocorticography rather than CC, prior craniotomy, or CC without craniotomy. The primary outcomes were comparing size of craniotomy, operative time, and surgical complications between endoscopic CC and microscopic CC. RESULTS: We included 14 CCs in 11 patients in the endoscopic group and 58 CCs in 55 patients in the microscopic group. No significant difference in age was seen between groups. Craniotomies were significantly smaller in the endoscopic group for anterior (13.36 ± 1.31 cm 2 vs 27.55 ± 3.78 cm 2 ; P = .001), total (14.07 ± 2.54 cm 2 vs 26.63 ± 6.97 cm 2 ; P = .001), and pCC (9.44 ± 1.18 cm 2 vs 30.23 ± 10.76 cm 2 ; P = .002). Moreover, no significant differences in operative time (anterior CC [261 ± 53.11 min vs 298.73 ± 81.08 min, P = .226], total CC [339.5 ± 48.2 min vs 321.39 ± 65.98 min, P = .452], pCC [198 ± 24.73 min vs 242.5 ± 59.12 min, P = .240]), or complication rate were seen. CONCLUSION: Endoscopic CC is a promising technique requiring a smaller craniotomy than microscopic CC, without significantly increasing operative time or complication rate compared with microscopic CC.

Limited dorsal myeloschisis associated with intramedullary infantile hemangioma in the conus medullaris: illustrative case.

BACKGROUND: Limited dorsal myeloschisis (LDM) and intramedullary infantile hemangioma rarely coexist in the spinal cord. OBSERVATIONS: The authors describe the case of a 3-month-old girl who, despite lacking neurological symptoms or signs, had a cigarette burn-like mark at the lumbosacral area and skin dimpling in the gluteal area. Magnetic resonance imaging showed a low-set conus due to a thickened filum and an abnormal subcutaneous stalk connected to the conus medullaris. In combination with the skin lesions, these findings strongly implied nonsaccular-type LDM. An intramedullary mass in the conus medullaris was also shown on magnetic resonance imaging and was homogenously enhanced with isointensity on T1- and T2-weighted images. We prophylactically untethered the spinal cord and partially removed the intramedullary mass, which had no clear borders, for a safe surgical dissection. Histologically, the intramedullary mass was an infantile hemangioma, and the subcutaneous stalk was a lesion associated with LDM. The patient remained neurologically intact after surgery, and then 2 years later, there was spontaneous regression of the residual tumor. LESSONS: Although rare, nonsaccular type LDM may appear concurrently with intramedullary infantile hemangioma at the conus medullaris. The authors present a possible mechanism behind this concurrent presentation in the same area.

[Surgical Treatment of Mesial Temporal Lobe Epilepsy Focusing on Anatomical Understanding].

Surgical treatment is an effective option for medically intractable epilepsy. Amygdalohippocampectomy for mesial temporal lobe epilepsy is a surgically remediable epileptic syndrome. It is a well-established surgery and various approaches to the mesial temporal lobe have been reported. To reduce the complication rate, surgeons should have sufficient knowledge of anatomy in the mesial temporal region. Here, we summarize the surgical treatments for mesial temporal lobe epilepsy, focusing on anatomical understanding. We described in detail the surgical anatomy of amygdalohippocampectomy and various approaches to the mesial temporal region. In addition, we describe hippocampal transection aimed at preserving memory function, which is an alternative surgery in patients without hippocampal sclerosis. An anatomical understanding of the mesial temporal region helps surgeons not only in the field of epilepsy surgery, but also in other fields of neurosurgery, such as brain tumor and vascular surgery.

Comparing late-onset epileptic spasm outcomes after corpus callosotomy and subsequent disconnection surgery between post-encephalitis/encephalopathy and non-encephalitis/encephalopathy.

OBJECTIVE: We aimed to analyze the efficiency of corpus callosotomy (CC) and subsequent disconnection surgeries in patients with late-onset epileptic spasms (LOES) by comparing post-encephalitis/encephalopathy (PE) and non-encephalitis/encephalopathy (NE). We hypothesized these surgeries can control potential focal onset epileptic spasms (ES) in the NE group but not in the PE group. METHODS: We retrospectively included 23 patients (12 with PE and 11 with NE) who initially underwent CC and subsequent disconnection surgeries (five NE). We compared the clinical courses, seizure types, MRI, video-EEG, epilepsy surgery, and seizure outcomes between the two groups. RESULTS: The median age of LOES onset in the PE group was 2.8 (range 1.0-10.1 years) and 2.9 years (range 1.1-12.6) in the NE group. Bilateral MRI abnormalities were observed in both groups (PE, n = 12; NE, n = 3; P < 0.05). The PE group presented ES alone (n = 2), ES + focal seizures (FS) (n = 3), ES + generalized seizures (GS) (n = 3), and ES + FS + GS (n = 4) in addition to stimulus-induced startle seizures (SS) (n = 8) (mean 3.1 seizure types/patient). The NE group presented ES alone (n = 1), ES + FS (n = 2), and ES + FS + GS (n = 8) (mean 2.7 seizure types/patient). In the PE group, CC stopped ES (n = 1) and SS (n = 1) and achieved <50% SS (n = 3). In the NE group, CC achieved immediate ES-free status (n = 2) and < 50% ES (n = 1), and additional disconnection surgeries subsided all seizure types (n = 3) based on lateralized interictal/ictal EEG findings. LOES was significantly remitted by surgery in the NE group (6/11 [55%]) compared with the PE group (1/12 [8%]) (P < 0.05). SIGNIFICANCE: LOES is a drug-resistant, focal/generalized/unknown onset ES. Lateralization of ES in NE could be achieved after CC and eliminated by further disconnection surgeries because of potential focal onset ES. LOES in PE had little benefit from CC for generalized onset ES. However, CC might reduce SS in patients in the PE group with multiple seizure types.

[Perioperative Management in Pediatric Neurosurgery].

Appropriate perioperative management can facilitate good outcomes in pediatric neurosurgical patients. This section discusses infusion therapy, prophylactic antibiotics, and antiepileptic drugs in the perioperative management of pediatric neurosurgical patients. Fluid requirements were calculated using the Holiday and Segar formula and the 4-2-1 rule for determining hourly infusion requirements based on metabolic rate and body weight. Recently, the risk of hyponatremia with the use of hypotonic solutions has been reported, and an isotonic electrolyte solution with 1-2.5% glucose is recommended for maintenance infusions in the perioperative period. Pediatric perioperative prophylactic antibiotics have been recommended as follows: application of cephazolin(30 mg/kg)with a redosing interval of 3 h intraoperatively and continuation for 48 h or less postoperatively. However, even for shunt surgery, there are currently no evidence-based protocols regarding specific antibiotic recommendations or the duration of prophylactic antibiotics. Early antiepileptic prophylaxis is recommended in cases of severe head trauma in children, especially infants. Available intravenous antiepileptic drugs should be used with an understanding of their indications, characteristics, and side effects.

Surgical Management of Chiari Malformation Type I Associated with Syringomyelia: Outcome of Surgeries Based on the New Classification and Study of Cerebrospinal Fluid Dynamics.

Introduction: The mainstay of treatment of syringomyelia associated with Chiari malformation type I (CM-I) is the management of CM-I to normalize the cerebrospinal fluid (CSF) flow at the foramen magnum. CM-I is classified into three independent types. Surgical treatment was selected based on the mechanism of hindbrain ptosis in each CM-I type. Materials and Methods: Foramen magnum decompression (FMD: 213 cases), expansive suboccipital cranioplasty (ESCP: 87 cases), and craniocervical fixation (CCF: 30 cases) were performed. CSF flow dynamics were assessed pre- and post-surgery using cine phase contrast magnetic resonance imaging. During surgery, CSF flow dynamics were examined using color Doppler ultrasonography (CDU). Results: ESCP and FMD demonstrated high rates of improvement in neurological symptoms and signs (82.7%), whereas CCF demonstrated a high rate of improvement in neurological symptoms (89%). The pre-operative maximum flow velocity (cm/s) was significantly lower in patients than in controls and increased post-operatively. During surgery, CDU indicated that the volume of the major cistern was 8 mL, and the maximum flow velocity was >3 mL/s. Conclusions: An appropriate surgical treatment should be selected for CM-I to correct hindbrain ptosis. In addition, it is necessary to confirm the normalization of CSF flow at the foramen of Magendie.

Primary Experiences with Robot-assisted Navigation-based Frameless Stereo-electroencephalography: Higher Accuracy than Neuronavigation-guided Manual Adjustment.

The use of robot-assisted frameless stereotactic electroencephalography (SEEG) is becoming more common. Among available robotic arms, Stealth Autoguide (SA) (Medtronic, Minneapolis, MN, USA) functions as an optional instrument of the neuronavigation system. The aims of this study were to present our primary experiences with SEEG using SA and to compare the accuracy of implantation between SA and navigation-guided manual adjustment (MA). Seventeen electrodes from two patients who underwent SEEG with SA and 18 electrodes from four patients with MA were retrospectively reviewed. We measured the distance between the planned location and the actual location at entry (De) and the target (Dt) in each electrode. The length of the trajectory did not show a strong correlation with Dt in SA (Pearson's correlation coefficient [r] = 0.099, p = 0.706) or MA (r = 0.233, p = 0.351). De and Dt in SA were shorter than those in MA (1.99 ± 0.90 vs 4.29 ± 1.92 mm, p = 0.0002; 3.59 ± 2.22 vs 5.12 ± 1.40 mm, p = 0.0065, respectively). SA offered higher accuracy than MA both at entry and target. Surgical times per electrode were 38.9 and 32 min in the two patients with SA and ranged from 51.6 to 88.5 min in the four patients with MA. During the implantation period of 10.3 ± 3.6 days, no patients experienced any complications.

A case of focal cortical dysplasia type IIa with pathologically suspected bilateral Rasmussen syndrome.

BACKGROUND: Rasmussen syndrome (RS) is a rare neurological disorder characterized by unilateral chronic inflammation, drug-resistant epilepsy, and progressive neurological and cognitive deterioration. There has been no detailed pathological evaluation or finding, including focal cortical dysplasia, for bilateral RS. CASE REPORT: A 13-year-old boy presented with status epilepticus with focal to bilateral tonic clonic seizure starting from the left upper limb. At the age of 15, epilepsia partialis continua of the right face and upper extremities appeared, and MRI showed hemispheric abnormal signal intensities with left frontal lobe predominance. Three months later, MRI showed extensive abnormal signal intensities in the right occipitoparietal and left temporal lobes. Tacrolimus was useful in preventing recurrence. Because the seizures were intractable, a corpus callosotomy was performed at 16 years along with a concurrent brain biopsy from the bilateral lateral frontal cortices. We detected dysmorphic neurons in addition to inflammatory changes suspicious for RS, leading to a diagnosis of focal cortical dysplasia (FCD) type Ⅱa and suspected bilateral RS. Total callosotomy and vagus nerve stimulation were not sufficiently effective. CONCLUSIONS: In bilateral RS, FCD may be present in both cerebral hemispheres. In the current case, an autoimmune response to dysmorphic neurons may have contributed to the pathogenesis of intense inflammation.

Longitudinal electroencephalogram findings predict acute neurological and epilepsy outcomes in patients with hemorrhagic shock and encephalopathy syndrome.

OBJECTIVE: Hemorrhagic shock and encephalopathy syndrome (HSES) is a severe subtype of acute encephalopathy with a poor prognosis. The association between electroencephalogram (EEG) findings and neurological outcomes in patients with HSES, including the onset of epilepsy, remains unclear. METHODS: Thirty-two children with HSES registered in a database of Osaka City General Hospital between 2003 and 2018 were included in this study. The EEG findings which consisted of continuity, reactivity, state change, voltage, rhythmic and periodic patterns, and electrographic or electroclinical seizures, in the onset phase were evaluated for patient outcome. Patients who avoided acute death were investigated for epilepsy by a longitudinal EEG. Seizure types were determined by ictal video recordings. RESULTS: We analyzed EEG findings in the onset phase of 30 patients. Severely to extremely abnormal EEG pattern (deteriorated continuity more than discontinuous pattern, presence of generalized abnormal low voltage slow wave, and presence of generalized rhythmic and periodic patterns) in the onset phase correlated with poor outcome (p = 0.0024). Subsequently, 9/23 patients (39%) developed epilepsy, of which a total of eight had epileptic spasms. A significant correlation between interictal epileptic discharges and the development of epilepsy was observed as early as within three months (p = 0.0003). CONCLUSIONS: EEG pattern in the onset phase may be useful to predict the neurological prognosis in the acute stage. Moreover, this study demonstrated that longitudinal EEG findings after the acute phase of HSES were significantly related to the development of epilepsy. EEG findings are useful for predicting acute prognosis and epilepsy in patients with HSES.

Disconnection surgery to cure or palliate medically intractable epileptic spasms: a retrospective study.

OBJECTIVE: Surgery is a treatment option for medically intractable epileptic spasms (ESs). However, outcomes of ES after surgery are not well understood, especially when surgeries aimed at seizure palliation are included. The purpose of the present study was to 1) investigate the proportion of favorable postoperative ES outcomes, 2) explore the preoperative factors related to favorable postoperative ES outcomes, and 3) examine the timing of ES recurrence after disconnection surgeries, including both curative and palliative indications. METHODS: This retrospective study included patients who underwent disconnection surgery for medically intractable ES at the authors' institution between May 2015 and April 2021. Patients with suggested focal-onset ES based on preoperative evaluations initially underwent lobar disconnection. Patients with suggested generalized or unknown-onset ES underwent corpus callosotomy (CC). If evaluations after initial CC showed focalized or lateralized change, they were considered secondarily revealed focal-onset ES, and lobar disconnection was performed. ES outcomes were evaluated using the International League Against Epilepsy classification. ES outcomes were divided into classes 1-4 as favorable outcomes and classes 5 and 6 as unfavorable outcomes. The relationship between the favorable postoperative ES outcomes and the following preoperative factors was analyzed: sex, age at onset (< or > 1 year), duration between seizure onset and initial surgery (< or > 2 years), type of seizure at onset (ES or others), presence of other types of seizures, substrate, hypsarrhythmia, and MRI abnormalities. The period between the last surgery and ES recurrence was also analyzed. RESULTS: A total of 41 patients were included, of whom 75.6% achieved favorable ES outcomes. A longer seizure duration between seizure onset and initial surgery, presence of hypsarrhythmia, and positive MRI findings led to poorer postoperative ES outcomes (p = 0.0028, p = 0.0041, and p = 0.0241, respectively). A total of 60.9% of patients had ES recurrence during the follow-up period, and their ES recurred within 13 months after the last surgery. CONCLUSIONS: Disconnection surgery is an effective treatment option for medically intractable ES, even when the preoperative evaluation suggests a generalized or unknown onset.

TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma.

PURPOSE: Subependymal giant cell astrocytomas (SEGAs) are tumors that usually arise in the wall of one or the other lateral ventricle near a foramen of Monro, most often on a background of tuberous sclerosis complex (TSC). TSC has a variety of clinical manifestations caused by germline mutations of the TSC complex subunit 1 or 2 (TSC1, TSC2) genes. SEGAs without clinical manifestations of TSC are termed solitary SEGAs, which are hypothesized to be caused by tumor-only TSC1/2 mutations, or "forme fruste" of TSC with somatic mosaic mutations. However, it is difficult to distinguish between the two. Here, we report three patients with genetically investigated solitary SEGAs and review this rare manifestation. METHODS: SEGA was completely removed in two patients and partially removed in one. Genetic analyses were performed on the tumor tissue and on peripheral blood via DNA microarray, reverse-transcriptase polymerase chain reaction, and next-generation sequencing with ultra-deep sequencing of mutation points. RESULTS: All three patients had tumors with TSC2 somatic mutations and loss of heterozygosity (LOH). In one patient, the same TSC2 mutation was also detected in 1% of leukocytes in his blood. The tumors did not recur, and clinical manifestations of TSC did not develop during the 4-year follow-up. CONCLUSIONS: The genetic cause of solitary SEGAs may be a TSC2 mutation with LOH. In patients with solitary SEGA, mosaic mutations may present in other organs, and TSC may clinically manifest later in life; therefore, patients should be followed up for prolonged periods.

Surgical Aspects of Corpus Callosotomy.

Corpus callosotomy (CC) is one of the options in epilepsy surgeries to palliate patient seizures, and is typically applied for drop attacks. The mechanisms of seizure palliation involve disrupting the propagation of epileptic activity to the contralateral side of the brain. This review article focuses on the surgical aspects of CC. As a variations of CC, anterior two-thirds, posterior one-third, and total callosotomy are described with intraoperative photographs. As less-invasive surgical variations, recent progress in endoscopic CC, and CC without craniotomy, is described. CC remains acceptable under the low prevalence of complications, and surgeons should make the maximum effort to minimize the complication rate.

Malignant brain tumor in an infant showing histopathological features of yolk sac tumor but genetic and epigenetic features of AT/RT.

SMARCA4 pathogenic variants are rarely detected in pediatric brain tumors other than atypical teratoid rhabdoid tumors (AT/RTs) without INI1 deficiency or in some cases of medulloblastoma. Here, we report an atypical intracranial immature teratoma that recurred as a yolk sac tumor with metastatic spinal and lung lesions. Sequencing of the tumor revealed two SMARCA4 variants, including a splice-site variant and a non-synonymous variant of uncertain significance. Additionally, the methylation signature of the tumor was close to that of AT/RTs. Our case might be a yet-unrecognized subtype of pediatric tumors in which inactivation of SMARCA4 contributes to the pathogenesis.