- Summary:Purpose: Partial seizures in early postnatal life may be catastrophic and associated with poor long-term outcome. Epilepsy surgery can alleviate partial seizures in older children and adults, but there is little experience with surgical therapy in infancy apart from hemispheric epilepsy syndromes.Methods: We analyzed the results of cortical resection to treat medically refractory partial epilepsy in 31 children (16 boys, 15 girls) aged <3 years (mean, 18.3 months). Subjects were included only if seizure relief was the primary indication for surgery.Results: Follow-up of at least 1 year (mean, 4.6 years) in 26 patients revealed that 16 were seizure-free, 4 had >90% seizure reduction, and 6 had <90% reduction. There was no significant difference in seizure outcome between hemispherectomy/ multilobar resections and lobar resections or temporal versus extratemporal resection. Seizure outcome was independent of the amount of cortex removed in nonlesional patients. Only the presence of a discrete lesion on preoperative neuroimaging correlated with a favorable outcome. Family perceptions of accelerated development in seizure-free patients were not confirmed on developmental assessment.Conclusions: We conclude that cortical resection often benefits very young children with catastrophic partial seizures, but does not guarantee enhanced neurological development. The location and extent of the excised cortex may not be critical as long as the entire epileptogenic region and tesion are removed.

Children with cortical dysplasia of Taylor type have in common a very-early-onset, severe epilepsy with neurologic co-morbidity. Patients with the non-balloon cell pathologic subtype have a more severe phenotype. A trend toward a better outcome in the balloon cell group suggests that preoperative identification of these subtypes may impact surgical planning.

Staphylococcus aureus osteomyelitis is a serious infection that may predispose children to pathologic fractures. Protected weight-bearing and activity restriction are recommended in children with Staphylococcus aureus osteomyelitis who have the risk factors demonstrated in this study.

Object Upper cervical spine injuries in the pediatric age group have been recognized as extremely unstable from ligamentous disruption and as potentially lethal. Few measurement norms have been published for the pediatric upper cervical spine to help diagnose this pathological state. Instead, adult measurement techniques and results are usually applied inappropriately to children. The authors propose using high-resolution reconstructed CT scans to define a range of normal for a collection of selected upper cervical spine measurements in the pediatric age group. Methods Sagittal and coronal reformatted images were obtained from thin axial CT scans obtained in 42 children (< 18 years) in a 2-month period. There were 25 boys and 17 girls. The mean age was 100.9 months (range 1–214 months). Six CT scans were obtained for nontrauma indications, and 36 were obtained as part of a trauma protocol and later cleared for cervical spine injury. Six straightforward and direct linear distances—basion-dental interval (BDI); atlantodental interval (ADI); posterior atlantodental interval (PADI); right and left lateral mass interval (LMI); right and left craniocervical interval (CCI); and prevertebral soft-tissue thickness at C-2—that minimized logistical and technical distortions were measured and recorded. Statistical analysis including interobserver agreement, age stratification, and sex differences was performed for each of the 6 measurements. Results The mean ADI was 2.25 ± 0.24 mm (± SD), the mean PADI was 18.3 ± 0.07 mm, the mean BDI was 7.28 ± 0.10 mm, and the mean prevertebral soft tissue width at C-2 was 4.45 ± 0.43 mm. The overall mean CCI was 2.38 ± 0.44 mm, and the overall mean LMI was 2.91 ± 0.49 mm. Linear regression analysis demonstrated statistically significant age effects for PADI (increased 0.02 mm/month), BDI (decreased 0.02 mm/month), and CCI (decreased 0.01 mm/month). Similarly significant effects were found for sex; females demonstrated on average a smaller CCI by 0.26 mm and a smaller PADI by 2.12 mm. Moderate to high interrater reliability was demonstrated across all parameters. Conclusions Age-dependent and age-independent normal CT measurements of the upper cervical spine will help to differentiate physiological and pathological states in children. The BDI appears to change significantly with age but not sex; on the other hand, the LMI and ADI appear to be age-independent measures. This preliminary study suggests acceptable levels of interrater reliability, and further expanded study will aim to validate these measurements to produce a profile of normal upper cervical spine measurements in children.

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The integration of genome-scale studies such as whole-exome sequencing (WES) into the clinical care of children with cancer has the potential to provide insight into the genetic basis of an individual's cancer with implications for clinical management. This report describes the results of clinical tumor and germline WES for a patient with a rare tumor diagnosis, rosette-forming glioneuronal tumor of the fourth ventricle (RGNT). Three pathogenic gene alterations with implications for clinical care were identified: somatic activating hotspot mutations in FGFR1 (p.N546K) and PIK3CA (p.H1047R) and a germline pathogenic variant in PTPN11 (p.N308S) diagnostic for Noonan syndrome. The molecular landscape of RGNT is not well-described, but these data are consistent with prior observations regarding the importance of the interconnected MAPK and PI3K/AKT/mTOR signaling pathways in this rare tumor. The co-occurrence of FGFR1, PIK3CA, and PTPN11 alterations provides further evidence for consideration of RGNT as a distinct molecular entity from pediatric low-grade gliomas and suggests potential therapeutic strategies for this patient in the event of tumor recurrence as novel agents targeting these pathways enter pediatric clinical trials. Although RGNT has not been definitively linked with cancer predisposition syndromes, two prior cases have been reported in patients with RASopathies (Noonan syndrome and neurofibromatosis type 1 [NF1]), providing an additional link between these tumors and the mitogen-activated protein kinase (MAPK) signaling pathway. In summary, this case provides an example of the potential for genome-scale sequencing technologies to provide insight into the biology of rare tumors and yield both tumor and germline results of potential relevance to patient care.

The association of cervicothoracic extradural arachnoid cysts and obstetric brachial plexus palsy has not previously been reported. We report two patients with this association. The first patient is a 9-month-old boy with left obstetric brachial plexus palsy that developed bilateral leg weakness at 6 months of age owing to compression of the spinal cord by a C6 to T8 left cervicothoracic extradural arachnoid cyst. The second patient is a 3-year-old girl with bilateral brachial plexus palsy and spastic paraparesis who had magnetic resonance imaging at 3 days of age that showed intraspinal cord injury and a cervicothoracic extradural arachnoid cyst compressing the spinal cord. We believe that the association of cervicothoracic epidural arachnoid cysts and obstetric brachial plexus palsy in these patients was causal and recommend that the possibility of a cervicothoracic epidural arachnoid cyst be considered in patients with brachial plexus palsy and evidence of spinal cord injury.