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Children with syndromic craniosynostosis (sCS) have a higher incidence of cerebellar tonsillar herniation (TH) than the general population. In the general population, TH ≥ 5 mm below the foramen magnum is associated with typical neurological deficits but, in sCS, we do not know whether this degree of TH is required before such deficits occur. This prospective cohort study aimed to determine the association between findings on neurological assessment and cerebellar tonsillar position. Magnetic resonance imaging (MRI) was used to determine TH ≥ 5 mm and the presence of syringomyelia. In regard to the outcome of neurological deficits, these were categorized according to: A, cerebellar function; B, cranial nerve abnormalities; and C, sensory or motor dysfunction. Twenty of 63 patients with sCS (32% [95% confidence interval 21–45%]) had TH ≥ 5 mm and/or syringomyelia. There was no significant difference in proportion between individual forms of sCS: 16/34 Crouzon, 2/11 Muenke, 2/12 Apert, and 0/7 Saethre-Chotzen patients. Neurological deficits were prevalent (73% [95% confidence interval 60–83%]), and as frequent in patients with TH ≥ 5 mm and/or syringomyelia as those without. Surgery occurred in 3 patients overall, and only in Crouzon patients. Determining the effect of TH ≥ 5 mm on neurologic functioning in sCS patients is used to better determine when surgical intervention is warranted. However, we have found that neurological deficits are prevalent in sCS patients, irrespective of cerebellar tonsillar position, suggesting that such findings are developmental and, in part, syndrome-specific central nervous system features. • Neurological deficits are highly prevalent in syndromic craniosynostosis. • Absence of neurological deficits does not rule out cerebellar tonsillar herniation. • Surgery because of cerebellar position and/or syringomyelia is rarely needed. [ABSTRACT FROM AUTHOR]

Objective To define age-specific reference values for cerebrospinal fluid (CSF) total protein levels for children and validate these values in children with Guillain-Barré syndrome (GBS), acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS). Methods Reference values for CSF total protein levels were determined in an extensive cohort of diagnostic samples from children (<18 year) evaluated at Erasmus Medical Center/Sophia Children's Hospital. These reference values were confirmed in children diagnosed with disorders unrelated to raised CSF total protein level and validated in children with GBS, ADEM and MS. Results The test results of 6145 diagnostic CSF samples from 3623 children were used to define reference values. The reference values based on the upper limit of the 95% CI (i.e. upper limit of normal) were for 6 months–2 years 0.25 g/L, 2–6 years 0.25 g/L, 6–12 years 0.28 g/L, 12–18 years 0.34 g/L. These reference values were confirmed in a subgroup of 378 children diagnosed with disorders that are not typically associated with increased CSF total protein. In addition, the CSF total protein levels in these children in the first 6 months after birth were highly variable (median 0.47 g/L, IQR 0.26–0.65). According to these new reference values, CSF total protein level was elevated in 85% of children with GBS, 66% with ADEM and 23% with MS. Conclusion More accurate age-specific reference values for CSF total protein levels in children were determined. These new reference values are more sensitive than currently used values for diagnosing GBS and ADEM in children. [ABSTRACT FROM AUTHOR]

Objective To report our experience with the treatment of refractory seizures in children with epilepsies other than West and Landau-Kleffner syndrome with a new treatment regimen and to put our results in perspective with a review of original papers of all corticosteroid and ACTH treatments for refractory epileptic seizures in children. Methods In this retrospective observational study 26 children diagnosed with epilepsy with refractory seizures other than West syndrome and Landau-Kleffner syndrome were eligible for a treatment regimen consisting of three days intravenous methylprednisolone (20 mg per kilogram per day) followed by twelve weeks oral prednisolone (0.5 mg per kilogram on alternate days), followed by a taper phase. Data on efficacy and side effects were obtained. End-points were the percentage of patients that became seizure free or showed a good response (50% or more seizure reduction). Results Twenty-one patients were treated according to the protocol. Forty-three percent of the children showed a good response and 29% became seizure free. All but one patient had a relapse of seizures. Four patients had reversible adverse effects. From the data extracted from the literature we found that 52% of 155 children, that were treated with different corticosteroids showed a good response and 69% of 103 patients treated with ACTH. Conclusion Corticosteroids are a promising treatment modality in refractory seizures, but relapses are common. Results on efficacy and safety shown in this paper justify a randomized controlled trial. [ABSTRACT FROM AUTHOR]