The aim of this study was to show the role of magnetic resonance imaging (MRI) in elucidating the aetiology, or at least pathogenesis, of cerebral palsy (CP). A systematic review of studies using MRI in children with CP was performed according to pathogenetic patterns characterizing different timing periods of occurence of the lesions, and with respect to gestational age (term vs preterm) and CP subtypes. Out of the studies published since 1990 in English, six met all the inclusion criteria; they involved children with spastic and dyskinetic CP. Abnormal MRI was reported in 334 out of 388 (86%) patients and gave clues to pathogenesis in 83%. Fourteen studies met only part of the inclusion criteria and abnormal MRIs were reported even more frequently in these (91%; 930/1022). Periventricular white matter lesions were most frequent (56%) followed by cortical and deep grey matter lesions (18%); brain maldevelopments were rather rare, described in 9%. Brain maldevelopments and grey matter lesions were more often seen in term than in preterm-born children with CP (brain maldevelopments: 16% vs 2.5%; grey matter lesions: 33% vs 3.5%); periventricular white matter lesions occurred significantly more often in preterm than in term-born children (90% vs 20%). CP is mainly characterized by brain lesions which can be identified by MRI in around 75% of preterm infants; brain maldevelopments occur in around 10%.

AIM To develop and evaluate a classification system for magnetic resonance imaging (MRI) findings of children with cerebral palsy (CP) that can be used in CP registers.METHOD The classification system was based on pathogenic patterns occurring in different periods of brain development. The MRI classification system (MRICS) consists of five main groups: maldevelopments, predominant white matter injury, predominant grey matter injury, miscellaneous, and normal findings. A detailed manual for the descriptions of these patterns was developed, including test cases (www.scpenetwork.eu/en/my-scpe/rtm/neuroimaging/ cp-neuroimaging/). A literature review was performed and MRICS was compared with other classification systems. An exercise was carried out to check applicability and interrater reliability. Professionals working with children with CP or in CP registers were invited to participate in the exercise and chose to classify either 18 MRIs or MRI reports of children with CP.RESULTS Classification systems in the literature were compatible with MRICS and harmonization possible. Interrater reliability was found to be good overall (k=0.69; 0.54-0.82) among the 41 participants and very good (k=0.81; 0.74-0.92) using the classification based on imaging reports.INTERPRETATION Surveillance of Cerebral Palsy in Europe (SCPE) proposes the MRICS as a reliable tool. Together with its manual it is simple to apply for CP registers.Surveillance of Cerebral Palsy in Europe (SCPE) has, through agreement in definitions and classifications of cerebral palsy (CP), developed a common language in the domain of CP.1,2 This has been a prerequisite for comparative studies, 3,4 and for studies which necessitate a large population basis. 4,5 This common language has generated a lot of interest even beyond Europe: the definitions and classifications are widely used, and SCPE papers extensively cited.CP is a clinical diagnosis, based upon neurological symptoms and a motor disorder causing an activity limitation.6 SCPE does not consider neuroimaging a prerequisite for the diagnosis of CP.2 Up to now, normal magnetic resonance imaging (MRI) does not exclude the diagnosis of CP. Moreover, neuroimaging, especially MRI, is not available nor used in all countries to the same extent. In addition, the use of MRI, as well as knowledge of its role in the understanding of CP pathogenesis, has dramatically increased during the last 15 years, which would make comparison between countries and time periods difficult. Most importantly, there is no commonly agreed neuroimaging classification for CP at this time.Although neuroimaging is not part of the CP definition, neuroimaging findings are abnormal in more than 80% of children with CP, 7-9 disclosing the pathogenic pattern responsible for the CP. Neuroimaging may also help to understand the structure-function relationship. 10,11 National guidelines recommend MRI as the first diagnostic step after history taking, neurological examination, and examination of additional impairments.12 Therefore, a need was exp...

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Presented is a pedigree with infancy-onset benign hereditary chorea (BHC) caused by a novel nonsense mutation in exon 3 (523G-->T, E175X) of the TITF-1 (Nkx2.1) gene. Four confirmed mutation carriers showed the typical movement disorder of BHC and congenital hypothyroidism. Surprisingly, treatment with levodopa improved gait dramatically and reduced chorea in two patients. Dopaminergic drugs should be considered a useful therapeutic option in BHC.

Primary extradural ependymomas are rare neoplasms usually of the myxopapillary type. Reports on malignant primary extradural ependymal tumors are exceptionally rare. We here report on a 3-year-old boy with Schinzel-Giedion syndrome (SGS), who presented with lumbar spina bifida occulta and a progressive extraspinal lesion in the subcutaneous sacrococcygeal region. Microscopic examinations revealed an uncommon ependymal tumor with well-differentiated regions reflecting myxopapillary ependymoma and highly anaplastic regions with numerous mitoses, necroses, ependymal rosettes and ependymoblastic rosettes. Final neuropathologic diagnosis was an extraspinal anaplastic ependymal tumor with myxopapillary and ependymoblastic differentiation, corresponding to WHO grade IV. SGS is a very rare disorder with a likely autosomal recessive pattern of inheritance. So far, 42 cases have been reported, among them 7 were diagnosed to have malignant neoplasms, including three malignant sacrococcygeal teratomas, two sacrococcygeal primitive neuroectodermal tumors (PNET), one hepatoblastoma and one malignant kidney tumor. The present case is the first report on an ependymal tumor with a mixture of myxopapillary, anaplastic and ependymoblastic features and the first report on an ependymal tumor arising on the genetic background of SGS.

Background Surveillance of cerebral palsy in Europe (SCPE) presents the first population-based results on neuroimaging findings in children with cerebral palsy (CP) using a magnetic resonance imaging classification system (MRICS). Method MRIs of children with CP born between 1999 and 2009 from 18 European countries were analyzed. MRICS identifies patterns of brain pathology according to timing during brain development which was analyzed with respect to CP subtypes and gestational age. Results MRIs or written reports from 3,818 children were available. The main clinical characteristics were similar to the 5,415 without such data. Most frequent was predominant white matter injury (49%), followed by predominant gray matter injury (21%). Maldevelopments were found in 11% of cases. Miscellaneous findings were present in 8.5% and normal findings in 10.6%. MRI patterns of children with unilateral spastic, bilateral spastic, and dyskinetic CP were mainly lesional (77, 71, and 59%, respectively), whereas children with ataxic CP had more maldevelopments, miscellaneous, and normal findings (25, 21, and 32%, respectively). In children born preterm, predominant white matter injury was most prevalent (80% in children born <32 weeks of gestation). Conclusion Analysis of MRI in the European CP database identified CP as a mainly lesional condition on a large population basis, maldevelopments were relatively uncommon. An exception was ataxic CP. Children born preterm mostly presented with a lesion typical for their gestational age (GA) at birth. The decreasing prevalence of CP in this group suggests that progress in perinatal and neonatal medicine may lead to a reduction of these lesions.

Objective This article describes associated impairments in children with cerebral palsy (CP) and its subtypes. Method Children born between 1990 and 2006 recorded in the Surveillance of Cerebral Palsy in Europe common database were studied. An “impairment index” characterized severity of impairments and their combinations. Results Amongst the 11,015 children analyzed, 56% (n = 5,968) could walk unaided, 54% (4,972) had normal or near-normal intellect (intelligence quotient ≥ 70). Except for ataxic CP, associated impairments were less frequent when walking ability was preserved. The impairment index was low (walking unaided and normal or near-normal intellect) in 30% of cases; 54% (n = 1,637) in unilateral spastic, 24% (n = 79) in ataxic, 18% (n = 913) in bilateral spastic, and 7% (n = 50) in dyskinetic CP. Around 40% had a high impairment index (inability to walk and/or severe intellectual impairment ± additional impairments)—highest in dyskinetic (77%, n = 549) and bilateral spastic CP (54%, n = 2,680). The impairment index varied little in birth weight and gestational age groups. However, significantly fewer cases in the birth weight group ≤ 1,000 g or gestational age group ≤ 27 weeks had a low impairment index compared to the other birth weight and gestational age groups (23 and 24% vs. between 27 and 32%). Conclusion Thirty percent of the children with CP had a low impairment index (they were able to walk unaided and had a normal or near-normal intellect). Severity in CP was strongly associated to subtype, whereas the association was weak with birth weight or gestational age.

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