R Jeroen Vermeulen

VU University Amsterdam, Amsterdamo, North Holland, Netherlands

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Publications (84)196.64 Total impact

  • [Show abstract] [Hide abstract] ABSTRACT: Selective dorsal rhizotomy (SDR) surgery is a well-established treatment for ambulatory children with bilateral spastic paresis and is performed to eliminate spasticity and improve walking. The objective of this case report is to describe sudden falls as a persistent complication of SDR. The authors report on 3 patients with bilateral spastic paresis, aged 12, 6, and 7 years at the time of surgery. The percentage of transected dorsal rootlets was around 40% at the L2-S1 levels. Sudden falls were reported with a frequency of several a day, continuing for years after SDR. The falls were often triggered by performing dual tasks as well as occurring in the transition from sitting to standing, during running, after strenuous exercise, or following a fright. Patients also had residual hyperesthesia and dysesthesia of the foot sole. The authors hypothesize that the sudden falls are caused by a muscle inhibition reflex of the muscles in the legs, as an abnormal reaction to a sensory stimulus that is perceived with increased intensity by a patient with hyperesthesia. A favorable effect of gabapentin medication supports this hypothesis.
    No preview · Article · Apr 2016 · Journal of Neurosurgery Pediatrics
  • [Show abstract] [Hide abstract] ABSTRACT: The Thompson encephalopathy score is a clinical score to assess newborns suffering from perinatal asphyxia. Previous studies showed a high sensitivity and specificity of the Thompson encephalopathy score for adverse outcomes (death or severe disability). As the Thompson encephalopathy score was developed before the use of therapeutic hypothermia, its value was reassessed.
    No preview · Article · Apr 2016
  • [Show abstract] [Hide abstract] ABSTRACT: Background: Feedback learning is essential for behavioral development. We investigated feedback learning in relation to behavior problems after pediatric traumatic brain injury (TBI). Method: Children aged 6-13 years diagnosed with TBI (n = 112; 1.7 years post-injury) were compared with children with traumatic control (TC) injury (n = 52). TBI severity was defined as mild TBI without risk factors for complicated TBI (mildRF- TBI, n = 24), mild TBI with ⩾1 risk factor for complicated TBI (mildRF+ TBI, n = 51) and moderate/severe TBI (n = 37). The Probabilistic Learning Test was used to measure feedback learning, assessing the effects of inconsistent feedback on learning and generalization of learning from the learning context to novel contexts. The relation between feedback learning and behavioral functioning rated by parents and teachers was explored. Results: No evidence was found for an effect of TBI on learning from inconsistent feedback, while the moderate/severe TBI group showed impaired generalization of learning from the learning context to novel contexts (p = 0.03, d = -0.51). Furthermore, the mildRF+ TBI and moderate/severe TBI groups had higher parent and teacher ratings of internalizing problems (p's ⩽ 0.04, d's ⩾ 0.47) than the TC group, while the moderate/severe TBI group also had higher parent ratings of externalizing problems (p = 0.006, d = 0.58). Importantly, poorer generalization of learning predicted higher parent ratings of externalizing problems in children with TBI (p = 0.03, β = -0.21) and had diagnostic utility for the identification of children with TBI and clinically significant externalizing behavior problems (area under the curve = 0.77, p = 0.001). Conclusions: Moderate/severe pediatric TBI has a negative impact on generalization of learning, which may contribute to post-injury externalizing problems.
    No preview · Article · Mar 2016 · Psychological Medicine
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    [Show abstract] [Hide abstract] ABSTRACT: Introduction: Therapeutic hypothermia improves outcome after perinatal asphyxia. The Ages and Stages Questionnaire is a screening tool to detect neurodevelopmental delay. In this study we examined the outcome of patients with perinatal asphyxia (defined as Apgar score <5 at 10 min, or continued need for resuscitation, or pH < 7.00 in umbilical cord or within one hour after birth) with and without therapeutic hypothermia treatment at the age of four years. Methods: Cohort study of patients with perinatal asphyxia admitted to the Neonatal Intensive Care Units of the VU University Medical Center, Amsterdam and the Wilhelmina Children's Hospital, Utrecht in the year 2008. Parents were asked to fill out the 48 months Ages and Stages Questionnaire (ASQ). In Wilhelmina Children's Hospital treatment with therapeutic hypothermia was implemented in 2008, in the VU University Medical Center in 2009, providing a historical cohort. Results/discussion: Twenty-three questionnaires were evaluated. Response rate of questionnaires for the VU Medical Center was 63% (n = 10) and Wilhelmina's Childrens Hospital 93% (n = 13). No significant differences were found in the mean scores between both groups. However, the untreated group scored more frequently under the -2 SD threshold. In the fine motor skills domain the difference was statistically significant (p = 0.031). In the treated group no patients developed cerebral palsy and in the untreated group two patients developed cerebral palsy. Conclusion: In this study patients treated with hypothermia tend to have a better neurodevelopmental outcome. No significant differences were found between the two groups, apart from the fine motor skills.
    Full-text · Article · Mar 2016 · European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society
  • [Show abstract] [Hide abstract] ABSTRACT: Introduction: Intrathecal baclofen (ITB) treatment is applied in patients with spastic cerebral palsy (SCP), dystonic cerebral palsy (DCP) and progressive neurological disease (PND). Our aim was to investigate whether ITB treatment has a different effect on activities of daily life (ADL) in these groups. Method: A retrospective and cross-sectional survey was conducted using a questionnaire to assess the qualitative effect of ITB (Likert scale) on different domains of functioning (mobility, personal care, communication, comfort) and satisfaction with the results. Groups were compared using non-parametric statistics. Results: Questionnaires were completed for 68 patients (39 SCP, 13 DCP, 16 PND). Satisfaction scores were relatively high in all groups (7-8) and the positive effect on personal care and communication was similar in all groups. The PND group had the shortest follow-up and scored significantly less favourably for the effect on mobility and comfort. Discussion: This is the first study to show that ITB treatment has similar effects on personal care and communication in stable and progressive neurological disease. The decrease in mobility in the PND group is likely due to the progressive nature of the disease. The different effect on comfort between groups is mainly due to the smaller effect on startles in the PND group.
    No preview · Article · Mar 2016 · European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society
  • [Show abstract] [Hide abstract] ABSTRACT: Background and objective: Severe neonatal anaemia can impair cerebral oxygen supply. Data on long-term outcomes following severe neonatal anaemia are scarce. Methods: Clinical data and neurodevelopmental outcome of 49 (near) term infants with haemoglobin concentration after birth <6.0 mmol/l were retrospectively collected and analysed. In a subgroup of 28 patients, amplitude-integrated EEG was available and in 25 infants cerebral MRI was obtained. Infants were followed up at 14-35 months of age and assessed with the Griffiths Scale of Mental Development or Bayley Scale of Infant Development. Results: Eighteen patients (37%) died during the neonatal period. In 25 patients MRI was performed. A predominant pattern of injury on MRI was seen in the basal ganglia and thalami in 7 patients (28%), whereas some form of white matter injury was present in 16 (64%) and a combination in 3 (12%). Follow-up data were available for 26 patients (84% of survivors). Formal assessment of neurodevelopmental outcome was performed in 20 of 31 (65%) infants who survived (median age: 19 months, range: 14-35). Sixteen infants (80%) had a developmental quotient appropriate for age in the first 2 years after birth. On motor outcome, 1 patient (5%) scored below average (Z-score -1.10). One patient developed cerebral palsy. Conclusion: Early neurodevelopmental outcome in surviving patients with severe neonatal anaemia was within the normal range in the majority of the survivors. MRI showed mild-to-moderate white matter injury in two thirds of the infants. Prospectively collected data with a longer follow-up period are needed.
    No preview · Article · Feb 2016 · Neonatology
  • [Show abstract] [Hide abstract] ABSTRACT: Purpose: PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant. The aim of our study was to evaluate the effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Methods: We report a retrospective multicenter study of antiepileptic therapy in 58 female patients with PCDH19 mutations and epilepsy aged 2-27 years (mean age 10.6 years). Results: The most effective drugs after 3 months were clobazam and bromide, with a responder rate of 68% and 67%, respectively, where response was defined as seizure reduction of at least 50%. Defining long-term response as the proportion of responders after 12 months of treatment with a given drug in relation to the number of patients treated for at least 3 months, the most effective drugs after 12 months were again bromide and clobazam, with a long-term response of 50% and 43%, respectively. Seventy-four percent of the patients became seizure-free for at least 3 months, 47% for at least one year. Significance: The most effective drugs in patients with PCDH19 mutations were bromide and clobazam. Although epilepsy in PCDH19 mutations is often pharmacoresistant, three quarters of the patients became seizure-free for at least for 3 months and half of them for at least one year. However, assessing the effectiveness of the drugs is difficult because a possible age-dependent spontaneous seizure remission must be considered.
    No preview · Article · Jan 2016 · Seizure
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    [Show abstract] [Hide abstract] ABSTRACT: Background: Axonal injury after traumatic brain injury (TBI) may cause impaired sensory integration. We aim to determine the effects of childhood TBI on visual integration in relation to general neurocognitive functioning. Methods: We compared children aged 6-13 diagnosed with TBI (n = 103; M = 1.7 years post-injury) to children with traumatic control (TC) injury (n = 44). Three TBI severity groups were distinguished: mild TBI without risk factors for complicated TBI (mildRF- TBI, n = 22), mild TBI with ≥1 risk factor (mildRF+ TBI, n = 46) or moderate/severe TBI (n = 35). An experimental paradigm measured speed and accuracy of goal-directed behavior depending on: (1) visual identification; (2) visual localization; or (3) both, measuring visual integration. Group-differences on reaction time (RT) or accuracy were tracked down to task strategy, visual processing efficiency and extra-decisional processes (e.g. response execution) using diffusion model analysis. General neurocognitive functioning was measured by a Wechsler Intelligence Scale short form. Results: The TBI group had poorer accuracy of visual identification and visual integration than the TC group (Ps ≤ .03; ds ≤ -0.40). Analyses differentiating TBI severity revealed that visual identification accuracy was impaired in the moderate/severe TBI group (P = .05, d = -0.50) and that visual integration accuracy was impaired in the mildRF+ TBI group and moderate/severe TBI group (Ps < .02, ds ≤ -0.56). Diffusion model analyses tracked impaired visual integration accuracy down to lower visual integration efficiency in the mildRF+ TBI group and moderate/severe TBI group (Ps < .001, ds ≤ -0.73). Importantly, intelligence impairments observed in the TBI group (P = .009, d = -0.48) were statistically explained by visual integration efficiency (P = .002). Conclusions: Children with mildRF+ TBI or moderate/severe TBI have impaired visual integration efficiency, which may contribute to poorer general neurocognitive functioning.
    Full-text · Article · Dec 2015 · PLoS ONE
  • No preview · Article · Oct 2015 · Journal of Obstetrics and Gynaecology
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    [Show abstract] [Hide abstract] ABSTRACT: Objective: To study the effect of vaccination-associated seizure onset on disease course and estimate the risk of subsequent seizures after infant pertussis combination and measles, mumps, and rubella (MMR) vaccinations in Dravet syndrome (DS). Methods: We retrospectively analyzed data from hospital medical files, child health clinics, and the vaccination register for children with DS and pathogenic SCN1A mutations. Seizures within 24 hours after infant whole-cell, acellular, or nonpertussis combination vaccination or within 5 to 12 days after MMR vaccination were defined as "vaccination-associated." Risks of vaccination-associated seizures for the different vaccines were analyzed in univariable and in multivariable logistic regression for pertussis combination vaccines and by a self-controlled case series analysis using parental seizure registries for MMR vaccines. Disease courses of children with and without vaccination-associated seizure onset were compared. Results: Children who had DS (n = 77) with and without vaccination-associated seizure onset (21% and 79%, respectively) differed in age at first seizure (median 3.7 vs 6.1 months, p < 0.001) but not in age at first nonvaccination-associated seizure, age at first report of developmental delay, or cognitive outcome. The risk of subsequent vaccination-associated seizures was significantly lower for acellular pertussis (9%; odds ratio 0.18, 95% confidence interval [CI] 0.05-0.71) and nonpertussis (8%; odds ratio 0.11, 95% CI 0.02-0.59) than whole-cell pertussis (37%; reference) vaccines. Self-controlled case series analysis showed an increased incidence rate ratio of seizures of 2.3 (95% CI 1.5-3.4) within the risk period of 5 to 12 days following MMR vaccination. Conclusions: Our results suggest that vaccination-associated earlier seizure onset does not alter disease course in DS, while the risk of subsequent vaccination-associated seizures is probably vaccine-specific.
    Full-text · Article · Aug 2015 · Neurology
  • [Show abstract] [Hide abstract] ABSTRACT: We investigated the impact of pediatric traumatic brain injury (TBI) on attention, a prerequisite for behavioral and neurocognitive functioning. Children aged 6 to 13 years who were diagnosed with TBI (n = 113; mean 1.7 years postinjury) were compared with children with a trauma control injury (not involving the head) (n = 53). TBI severity was defined as mild TBI with or without risk factors for complicated TBI (mild(RF+) TBI, n = 52; mild(RF-) TBI, n = 24) or moderate/severe TBI (n = 37). Behavioral functioning was assessed by using parent and teacher questionnaires, and the Attention Network Test assessed alerting, orienting, and executive attention. Ex-Gaussian modeling determined the contribution of extremely slow responses (lapses of attention) to mean reaction time (MRT). The TBI group showed higher parent and teacher ratings of attention and internalizing problems, higher parent ratings of externalizing problems, and lower intelligence than the control group (P < .05, d ≥ 0.34). No effect of TBI on alerting, orienting, and executive attention was observed (P ≥ .55). MRT was slower in the TBI group (P = .008, d = 0.45), traced back to increased lapses of attention (P = .002, d = 0.52). The mild(RF-) TBI group was unaffected, whereas the mild(RF+) TBI and moderate/severe TBI groups showed elevated parent ratings of behavior problems, lower intelligence, and increased lapses of attention (P ≤ .03, d ≥ 0.48). Lapses of attention fully explained the negative relation between intelligence and parent-rated attention problems in the TBI group (P = .02). Lapses of attention represent a core attention deficit in children with mild(RF+) TBI (even in the absence of intracranial pathology) or moderate/severe TBI, and relate to daily life problems after pediatric TBI. Copyright © 2015 by the American Academy of Pediatrics.
    No preview · Article · Aug 2015 · PEDIATRICS
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    [Show abstract] [Hide abstract] ABSTRACT: The aims of this study were to determine the intra- and interrater reliability of the Dutch-language version of the Communication Function Classification System (CFCS-NL) and to investigate the association between the CFCS level and (1) spoken language comprehension and (2) preferred method of communication in children with cerebral palsy (CP). Participants were 93 children with CP (50 males, 43 females; mean age 7y, SD 2y 6mo, range 2y 9mo-12y 10mo; unilateral spastic [n=22], bilateral spastic [n=51], dyskinetic [n=15], ataxic [n=3], not specified [n=2]; Gross Motor Function Classification System level I [n=16], II [n=14], III, [n=7], IV [n=24], V [n=31], unknown [n=1]), recruited from rehabilitation centres throughout the Netherlands. Because some centres only contributed to part of the study, different numbers of participants are presented for different aspects of the study. Parents and speech and language therapists (SLTs) classified the communication level using the CFCS. Kappa was used to determine the intra- and interrater reliability. Spearman's correlation coefficient was used to determine the association between CFCS level and spoken language comprehension, and Fisher's exact test was used to examine the association between the CFCS level and method of communication. Interrater reliability of the CFCS-NL between parents and SLTs was fair (r=0.54), between SLTs good (r=0.78), and the intrarater (SLT) reliability very good (r=0.85). The association between the CFCS and spoken language comprehension was strong for SLTs (r=0.63) and moderate for parents (r=0.51). There was a statistically significant difference between the CFCS level and the preferred method of communication of the child (p<0.01). Also, CFCS level classification showed a statistically significant difference between parents and SLTs (p<0.01). These data suggest that the CFCS-NL is a valid and reliable clinical tool to classify everyday communication in children with CP. Preferably, professionals should classify the child's CFCS level in collaboration with the parents to acquire the most comprehensive information about the everyday communication of the child in various situations both with familiar and with unfamiliar partners. © 2015 Mac Keith Press.
    Full-text · Article · Jul 2015 · Developmental Medicine & Child Neurology
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    [Show abstract] [Hide abstract] ABSTRACT: Fetal motility represents the spontaneous activity of the central nervous system and as such can be used to evaluate its functional integrity. Maternal mechanical trauma in pregnancy is a risk factor for hypoxic ischemic brain injury and can potentially affect the CNS and fetal motility. To study motility in fetuses after maternal trauma. Prospective study; 1-h sonographic observations at 2-8h (T1), 24-72h (T2) and >72h (T3) after trauma. Fetuses exposed to trauma after 20weeks gestational age. Motor aspects; differentiation into specific movement patterns, quality and quantity of general movements were compared to a normal population. Obstetrical outcome; neurological outcome at term and 1year of age. Sixteen fetuses were examined between 2012 and 2014. Median gestational age at time of trauma was 25+6 (range 20-38) weeks. Most traumas were traffic accidents or falls, injuries were mainly minor. Motility assessment showed abnormal differentiation in 2/16; 2/14 and 0/16; abnormal quality in 2/16; 3/14 and 6/16; and abnormal quantity in 6/16, 9/14 and 9/16 at T1, T2 and T3 respectively. Preterm delivery occurred once. Neurological development was normal in 13/14 infants at term and 14/14 at one year. This study shows that maternal trauma affected fetal motility in the majority of the fetuses. The changes in motility support the concern that even minor mechanical trauma may have influence on the functional integrity of the central nervous system, although no neurological sequelae were present at 1year. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
    Full-text · Article · Jun 2015 · Early human development
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    [Show abstract] [Hide abstract] ABSTRACT: To identify relations between brain abnormalities and spoken language comprehension, MRI characteristics of 80 nonspeaking children with severe CP were examined. MRI scans were analysed for patterns of brain abnormalities and scored for specific MRI measures: white matter (WM) areas; size of lateral ventricles, WM abnormality/reduction, cysts, subarachnoid space, corpus callosum thinning and grey matter (GM) areas; cortical GM abnormalities, thalamus, putamen, globus pallidus and nucleus caudatus and cerebellar abnormalities. Language comprehension was assessed with a new validated instrument (C-BiLLT). MRI scans of 35 children were classified as a basal ganglia necrosis (BGN) pattern, with damage to central GM areas; in 60% of these children damage to WM areas was also found. MRI scans of 13 children were classified as periventricular leukomalacia (PVL) with little concomitant damage to central GM areas, 13 as malformations and 19 as miscellaneous. Language comprehension was best in children with BGN, followed by malformations and miscellaneous, and was poorest in PVL. Linear regression modelling per pattern group (malformations excluded), with MRI measures as independent variables, revealed that corpus callosum thinning in BGN and parieto-occipital WM reduction in PVL were the most important explanatory factors for poor language comprehension. No MRI measures explained outcomes in language comprehension in the miscellaneous group. Comprehension of spoken language differs between MRI patterns of severe CP. In children with BGN and PVL differences in language comprehension performance is attributed to damage in the WM areas. Language comprehension was most affected in children with WM lesions in the subcortical and then periventricular areas, most characteristic for children with PVL. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
    Full-text · Article · Jun 2015 · European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society
  • No preview · Article · May 2015 · European Journal of Paediatric Neurology
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    [Show abstract] [Hide abstract] ABSTRACT: Background Children with severe cerebral palsy (CP) (i.e. ‘non-speaking children with severely limited mobility’) are restricted in many domains that are important to the acquisition of language.AimsTo investigate comprehension of spoken language on sentence type level in non-speaking children with severe CP.Methods & ProceduresFrom an original sample of 87 non-speaking children with severe CP, 68 passed the pre-test (i.e. they matched at least five spoken words to the corresponding objects) of a specifically developed computer-based instrument for low motor language testing (C-BiLLT), admitting them to the actual C-BiLLT computer test. As a result, the present study included 68 children with severe CP (35 boys, 33 girls; mean age 6;11 years, SD 3;0 years; age range 1;9–11;11 years) who were investigated with the C-BiLLT for comprehension of different sentence types: phrases, simple active sentences (with one or two arguments) and compound sentences. The C-BiLLT provides norm data of typically developing (TD) children (1;6–6;6 years). Binomial logistic regression analyses were used to compare the percentage correct of each sentence type in children with severe CP with that in TD children (subdivided into age groups) and to compare percentage correct within the CP subtypes.Outcomes & ResultsSentence comprehension in non-speaking children with severe CP followed the developmental trajectory of TD children, but at a much slower rate; nevertheless, they were still developing up to at least age 12 years. Delays in sentence type comprehension increased with sentence complexity and showed a large variability between individual children and between subtypes of CP. Comprehension of simple and syntactically more complex sentences were significantly better in children with dyskinetic CP than in children with spastic CP. Of the children with dyskinetic CP, 10–13% showed comprehension of simple and compound sentences within the percentage correct of TD children, as opposed to none of the children with spastic CP.Conclusion & ImplicationsIn non-speaking children with severe CP sentence comprehension is delayed rather than deviant. Results indicate the importance of following comprehension skills across all age groups, even beyond age 12 years. Moreover, the subtype of CP should be considered when establishing an educational programme for sentence comprehension, and augmentative and alternative communication support. In addition, educational programmes for children with severe CP should take into account the linguistic hierarchy of sentence comprehension when focusing on the input and understanding of spoken language comprehension.
    Full-text · Article · Feb 2015 · International Journal of Language & Communication Disorders
  • [Show abstract] [Hide abstract] ABSTRACT: A cohort of children born with perinatal hypoxic-ischemic encephalopathy (HIE) was followed prospectively until school age. To describe motor outcome and behavioral functioning of school-age children after perinatal HIE and the relationship with neonatal MRI and outcome at age 2. Twenty-five children (19 males), born at term with perinatal HIE, were assessed at a mean age of 7 y 6 m (range 6 y 4 m-8y 2 m). Motor ability was assessed with the Movement Assessment Battery for Children (2nd version) and behavioral functioning was assessed with the Child Behavior Checklist. Neonatal MRI was scored according to Barkovich classification. Of the 25 included children, eight had cerebral palsy (CP). Of the 17 children without CP, nine had impaired motor ability (of which 3 scored definitely abnormal), and four had behavioral problems. There was a significant difference in motor performance (p = 0.008) between children with normal and children with abnormal neonatal MRI. Two (of four) children with normal motor ability and seven (of 14) children with normal neurological examination at age 2 showed impaired motor ability at school age. Half of the children without CP had impaired motor ability at school age. A normal outcome after HIE at young age does not necessarily imply a good outcome at school age, even when neonatal MRI does not show any abnormalities. More research is needed on the behavioral and cognitive consequences of HIE at school age and on the consequences for quality of life for children with and without CP. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
    No preview · Article · Feb 2015 · European Journal of Paediatric Neurology
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    R Jeroen Vermeulen · Jules G Becher
    [Show abstract] [Hide abstract] ABSTRACT: This commentary is on the original article by Tedroff et al. on pages 484-490 of this issue.
    Full-text · Article · Jan 2015 · Developmental Medicine & Child Neurology
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    [Show abstract] [Hide abstract] ABSTRACT: Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes. We describe a patient with intractable neonatal seizures who died from respiratory compromise during a status epilepticus. This case report provides electroencephalogram (EEG), MRI, genetic analysis, and neuropathological data. Genetic analysis revealed a de novo heterozygous missense mutation in the KCNQ2 gene, which encodes a subunit of a voltage-gated potassium channel. KCNQ2 gene mutation is associated with intractable neonatal seizures. EEG, MRI, data as well as mutation analysis have been described in other KCNQ2 cases. Post-mortem neuropathological investigation revealed mild malformation of cortical development with increased heterotopic neurons in the deep white matter compared to an age-matched control subject. The new finding of this study is the combination of a KCNQ2 mutation and the cortical abnormalities. KCNQ2 mutations should be considered in neonates with refractory epilepsy of unknown cause. The mild cortical malformation is an important new finding, though it remains unknown whether these cortical abnormalities are due to the KCNQ2 mutation or are secondary to the refractory seizures.
    Full-text · Article · Dec 2014 · Frontiers in Pediatrics
  • [Show abstract] [Hide abstract] ABSTRACT: Lymphomatoid granulomatosis (LG) is a B-cell type lymphoproliferative disease. It mainly affects the lungs but may have extrapulmonary manifestations, especially in the central nervous system. The purpose of this study was to review the pediatric cases in the literature and add 2 new cases to the existing literature. A review of the literature was performed on children (0 to 18 years of age at diagnosis) with pathologically proven LG. We found 47 case reports, which, together with 2 new cases, were systematically analyzed. The median age was 12 years. The main symptoms were general, pulmonary, and neurological. Approximately one third of the patients were immunocompromised. High mortality rate was observed. Pediatric LG is a rare disease, which appears to be more frequently seen in immunocompromised patients, especially patients with leukemia. The disease has a high mortality rate; therefore, aggressive therapy according to a high-grade B-cell lymphoma protocol is justified.
    No preview · Article · Oct 2014 · Journal of Pediatric Hematology/Oncology