The lumbosacral angle does not reflect progressive tethered cord syndrome in children with spinal dysraphism

Purpose: Our goal was to validate the hypothesis that the lumbosacral angle (LSA) increases in children with spinal dysraphism who present with progressive symptoms and signs of tethered cord syndrome (TCS), and if so, to determine for which different types and/or levels the LSA would be a valid indicator of progressive TCS. Moreover, we studied the influence of surgical untethering and eventual retethering on the LSA. Methods: We retrospectively analyzed the data of 33 children with spinal dysraphism and 33 controls with medulloblastoma. We measured the LSA at different moments during follow-up and correlated this with progression in symptomatology. Results: LSA measurements had an acceptable intra- and interobserver variability, however, some children with severe deformity of the caudal part of the spinal column, and for obvious reasons those with caudal regression syndrome were excluded. LSA measurements in children with spinal dysraphism were significantly different from the control group (mean LSA change, 21.0° and 3.1° respectively). However, both groups were not age-matched, and when dividing both groups into comparable age categories, we no longer observed a significant difference. Moreover, we did not observe a significant difference between 26 children with progressive TCS as opposed to seven children with stable TCS (mean LSA change, 20.6° and 22.4° respectively). Conclusions: We did not observe significant differences in LSA measurements for children with clinically progressive TCS as opposed to clinically stable TCS. Therefore, the LSA does not help the clinician to dete

The juvenile head trauma syndrome Deterioration after mild TBI:Diagnosis and clinical presentation at the Emergency Department

Background: Annually 14.000 children with traumatic brain injury (TBI) are admitted to the Emergency Depathuent (ED) in the Netherlands. Presentation varies and a specific entity comprises the juvenile head trauma syndrome (JHTS) with secondary deterioration after a mild trauma. As outcome of JHTS can be fatal, early recognition is essential. Aim: To outline the epidemiology and clinical features of JHTS, in comparison to paediatric mild TBI patients without JHTS. Methods: Retrospective study of 570 patients with mild TBI admitted to the ED of a level-one trauma centre from 2008 to 2014. Diagnosis of JHTS by experienced neurologists was compared with diagnosis by physicians at the ED. Results: Physicians at the ED diagnosed JHTS more frequently (14%) compared to experienced neurologists (8%). JHTS occurred after a lucid interval varying from 5 to 225 min (mean 44 (SD 64)) with changes in consciousness. JHTS patients were younger compared to mild TBI patients (4.1 (SD 2.4) vs. 7.3 (SD 5.7), p <0.01), (range: 1-10 years). Falls occurred more often in JHTS (84% vs. 69%, p = 0.03) and at presentation, vomiting (42% vs. 22%, p <0.01) and changed behaviour (29% vs. 1%, p = 0.03) were more present compared to the mild TBI group. Conclusion and discussion: JHTS occurs more often in children up to 10 years with falls as major cause of injury. Clues for recognition of this syndrome comprise changes in consciousness and vomiting or changed behaviour on presentation at the ED. For clinical practice, these factors should guide the decision for hospital admission or discharge. (C) 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved

The prognostic value of serial EEG recordings following acute neonatal asphyxia in full-term infants

Perinatal asphyxia is one of the major causes of non-progressive neurological deficits seen in children. It is reported that currently no set of parameters allowing for accurate prediction of prognosis following severe perinatal asphyxia is available. Even electroencephalogram (EEG) recordings, which are known to give a fairly good prediction of long-term outcome, have their flaws. The aim of this prospective study was to evaluate the additional value of serial EEGs in full-term infants. In all, 36 infants were enrolled. All met strict entrance criteria, received standard treatment and underwent two EEGs according to a pre-set protocol: the first between 12 and 36 hours post-partum, the second between 7 and 9 days post-partum. It is clearly demonstrated that serial EEG recordings do enhance the prognostic value of the EEG. Moreover, distinct progression seen in serial EEGs is highly prognostic for a normal outcome and has even more prognostic value than one single severely abnormal EEG. A better indication of future outcome is obtained from serial EEGs

Effect of seat surface inclination on postural control during reaching in preterm children with cerebral palsy

Background and Purpose Because it is debatable whether seat surface inclination improves motor function in children with cerebral palsy (CP), the effect of seat surface tilting on postural control and quality of reaching was studied. Subjects The subjects were 58 children with CP aged 2 to 11 years (34 with unilateral spastic CP, 24 with bilateral spastic Cl?). Methods During the task of reaching movements, surface electromyographic and kinematic data were recorded for posture and reaching with the dominant arm in 3 sitting conditions: horizontal seat surface, seat surface tilted forward 15 degrees, and seat surface tilted back-ward 15 degrees. Results In the children with unilateral spastic CP, forward tilting improved postural efficiency and quality of reaching. In the children with bilateral spastic CP, both forward and backward tilting of the seat surface was associated with more postural instability and did not affect the quality of reaching. Discussion and Conclusion The results suggest that, in terms of postural control and quality of reaching, children with unilateral spastic CP benefit from a forward-tilted position and children with bilateral spastic CP benefit from a horizontal sitting position

Absent Thalami Caused by a Homozygous EARS2 Mutation:Expanding Disease Spectrum of LTBL

Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is caused by autosomal recessive EARS2 mutations. Onset is most often in infancy, but in severe cases in the neonatal period. Patients typically have magnetic resonance imaging (MRI) signal abnormalities involving the thalamus, brainstem, and deep cerebral white matter. Most signal abnormalities resolve, but in severe cases at the expense of tissue loss. Here, we report a patient with an encephalopathy of antenatal onset. His early MRI at 8 months of age showed signal abnormalities in the deep cerebral white matter that improved over time. The thalami were absent with the configuration of a developmental anomaly, without evidence of a lesion. We hypothesized that this was a case of LTBL in which the thalamic damage occurred antenatally and was incorporated in the normal brain development. The diagnosis was confirmed by a novel homozygous EARS2 mutation. Our case adds to the phenotypic and genetic spectrum of LTB

Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire

Contains fulltext : 237054.pdf (Publisher’s version ) (Open Access

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 beta gene

Background Peroxisomes are organelles that proliferate continuously and play an indispensable role in human metabolism. Consequently, peroxisomal gene defects can cause multiple, often severe disorders, including the peroxisome biogenesis disorders. Currently, 13 different PEX proteins have been implicated in various stages of peroxisome assembly and protein import. Defects in any of these proteins result in a peroxisome biogenesis disorder. The authors present here a novel genetic defect specifically affecting the division of peroxisomes. Methods The authors have studied biochemical and microscopical peroxisomal parameters in cultured patient fibroblasts, sequenced candidate PEX genes and determined the consequence of the identified PEX11 beta gene defect on peroxisome biogenesis in patient fibroblasts at different temperatures. Results The patient presented with congenital cataracts, mild intellectual disability, progressive hearing loss, sensory nerve involvement, gastrointestinal problems and recurrent migraine-like episodes. Although microscopical investigations of patient fibroblasts indicated a clear defect in peroxisome division, all biochemical parameters commonly used for diagnosing peroxisomal disorders were normal. After excluding mutations in all PEX genes previously implicated in peroxisome biogenesis disorders, it was found that the defect was caused by a homozygous non-sense mutation in the PEX11 beta gene. The peroxisome division defect was exacerbated when the patient's fibroblasts were cultured at 40 degrees C, which correlated with a marked decrease in the expression of PEX11 gamma. Conclusions This novel isolated defect in peroxisome division expands the clinical and genetic spectrum of peroxisomal disorders and indicates that peroxisomal defects exist, which cannot be diagnosed by standard laboratory investigation