Abstract: An interdisciplinary European group of clinical experts in the field of movement disorders and experienced Botulinum toxin users has updated the consensus for the use of Botulinum toxin in the treatment of children with cerebral palsy (CP). A problem-orientated approach was used focussing on both published and practice-based evidence. In part I of the consensus the authors have tabulated the supporting evidence to produce a concise but comprehensive information base, pooling data and experience from 36 institutions in 9 European countries which involves more than 10,000 patients and over 45,000 treatment sessions during a period of more than 280 treatment years. In part II of the consensus the Gross Motor Function Measure (GMFM) and Gross Motor Function Classification System (GMFCS) based Motor Development Curves have been expanded to provide a graphical framework on how to treat the motor disorders in children with CP. This graph is named "CP(Graph) Treatment Modalities - Gross Motor Function" and is intended to facilitate communication between parents, therapists and medical doctors concerning (1) achievable motor function, (2) realistic goal-setting and (3) treatment perspectives for children with CP. The updated European consensus 2009 summarises the current understanding regarding an integrated, multidisciplinary treatment approach using Botulinum toxin for the treatment of children with CP.
Abstract: To study whether onset of infantile spasms manifests seasonal variation, as previously reported, and whether any such seasonality is associated with treatment response and long-term outcome, data for 57 patients were retrospectively reviewed. The data were collected from hospital files and through a mail survey of children with infantile spasms born from 1980 to 2002 and monitored at the University Children's Hospital of Berne, Switzerland. The mean age at time of onset of infantile spasms was 7 months (range, 0.75-40), at diagnosis 8 months (range, 1-42) and at follow-up 11.3 years (range, 1-23 years). In 77% of participants, the etiology of infantile spasms was known (symptomatic); in the remaining 23% it was not known (nonsymptomatic). In contrast to previous findings, onset of infantile spasms was not associated with calendar month, photoperiod, or global solar radiation. Long-term prognosis was poor: 4 of the 57 (7%) children died; 49 (86%) had cognitive impairment and 40 (70%) had physical impairment; 31 (54%) had cerebral palsy, 37 had (65%) persistent seizures, and 9 (16%) had Lennox-Gastaut syndrome. Symptomatic infantile spasms were associated with worse cognitive outcome (P < 0.001), but treatment modality and overall duration of infantile spasms were not. There was no association of calendar month or photoperiod at onset with cognitive outcome or treatment response.
Abstract: RATIONALE: A child's brain shows a remarkable ability to recover from adverse events such as stroke. Language functions recover particularly well, while visuo-spatial skills are more affected by brain damage, regardless of its localization. This study investigated the lateralization of language and visual search after childhood stroke. METHODS: Ten patients with unilateral stroke (aged 10-19 years, five left-, five right-sided lesion) and 20 healthy controls (aged 8-20 years) completed a neuropsychological test battery and functional magnetic resonance imaging (fMRI) intended to activate predominantly right (visual search) and left-sided functional networks (language). RESULTS: After stroke, patients demonstrated atypical lateralization of visual search functions (8/10 patients, left lateralization) more often than that of language (4/10 patients, right lateralization). There was a dissociation between the lateralization of productive and semantic language (4/10 patients, 1/20 controls) and between the lateralization of simple and complex visual search (3/10 patients, 3/20 controls). In patients, atypical contralateral activations occurred in the same areas that showed decreasing activation during development in healthy participants. CONCLUSION: The lateralization of functions depends upon the cognitive function measured. Dissociation between the lateralization of different language or visual search tasks can occur.
Abstract: Opsoclonus-myoclonus syndrome (OMS) is a rare acquired movement disorder occurring in all age groups, predominantly in infants. Although the exact pathogenesis is still undefined, there is strong evidence for a paraneoplastic or parainfectious immune process resulting in central nervous system dysfunction. Mycoplasma pneumoniae has been implicated in a number of immune-mediated neurologic diseases [28]. However, the association of M. pneumoniae and opsoclonus-myoclonus-ataxia syndrome is not well established so far. We present three cases with opsoclonus-myoclonus-ataxia syndrome in adolescents following an infection with M. pneumoniae. Monophasic disease course and full recovery correspond to the favorable prognosis known from parainfectious cases in young adults. This should affect therapeutic consideration. OMS should be added to the spectrum of M. pneumoniae-associated neurologic complications. Nevertheless, neuroblastoma has to be ruled out in all cases of OMS.
Abstract: Aim The aim of this study was to describe neuroimaging patterns associated with arterial ischaemic stroke (AIS) in childhood and to differentiate them according to stroke aetiology. Method Clinical and neuroimaging (acute and follow-up) findings were analysed prospectively in 79 children (48 males, 31 females) aged 2 months to 15 years 8 months (median 5y 3mo) at the time of stroke by the Swiss Neuropaediatric Stroke Registry from 2000 to 2006. Results Stroke was confirmed in the acute period in 36 out of 41 children who underwent computed tomography, in 53 of 57 who underwent T2-weighted magnetic resonance imaging (MRI) and in all 48 children who underwent diffusion-weighted MRI. AIS occurred in the anterior cerebral artery (ACA) in 63 participants and in all cases was associated with lesions of the middle cerebral artery (MCA). The lesion was cortical-subcortical in 30 out of 63 children, cortical in 25 out of 63, and subcortical in 8 of 63 children. Among participants with AIS in the posterior circulation territory, the stroke was cortical-subcortical in 8 out of 16, cortical in 5 of 16, and thalamic in 3 out of 16 children. Interpretation AIS mainly involves the anterior circulation territory, with both the ACA and the MCA being affected. The classification of Ganesan is an appropriate population-based classification for our Swiss cohort, but the neuroimaging pattern alone is insufficient to determine the aetiology of stroke in a paediatric population. The results show a poor correlation between lesion pattern and aetiology.
Abstract: Aim To describe the characteristics of paediatric cerebral sinus venous thrombosis (CSVT) in Switzerland. Method Data on clinical features, neuroimaging, risk factors, and treatment were collected for all children in Switzerland younger than 16 years of age who had CSVT between January 2000 and December 2008. A follow-up examination and a cognitive assessment were performed (mean follow-up period 26mo). Differences between neonates and children (patients older than 28d) were assessed and predictors of outcome were determined. Results Twenty-one neonates (14 males, seven females; mean age 9d, SD 8d) and 44 children (30 males, 14 females; mean age 8y 7mo, SD 4y 5mo) were reported. The incidence of paediatric CSVT in Switzerland was 0.558 per 100 000 per year. In neonates, the deep venous system was more often involved and parenchymal injuries were more common. The strongest predictor of poor outcome was neonatal age (odds ratio 17.8, 95% confidence interval 0.847-372.353). Most children showed global cognitive abilities within the normal range, but impairments in single cognitive subdomains were frequent. Interpretation Paediatric CSVT is rare. Its outcome is poor in neonates. Most children have good neurological outcomes, but some patients have individual neuropsychological impairments.
Abstract: INTRODUCTION: Acute transverse myelitis (ATM) is a rare disorder (1-8 new cases per million of population per year), with 20% of all cases occurring in patients younger than 18 years of age. Diagnosis requires clinical symptoms and evidence of inflammation within the spinal cord (cerebrospinal fluid and/or magnetic resonance imaging). ATM due to neuroborreliosis typically presents with impressive clinical manifestations. CASE PRESENTATION: Here we present a case of Lyme neuroborreliosis-associated ATM with severe MRI and CSF findings, but surprisingly few clinical manifestations and late conversion of the immunoglobulin G CSF/blood index of Borrelia burgdorferi sensu lato. CONCLUSION: Clinical symptoms and signs of neuroborrelial ATM may be minimal, even in cases with severe involvement of the spine, as shown by imaging studies. The CSF/blood index can be negative in the early stages and does not exclude Lyme neuroborreliosis; if there is strong clinical suspicion of Lyme neuroborreliosis, appropriate treatment should be started and the CSF/blood index repeated to confirm the diagnosis.
Abstract: Cognitive functions in the child's brain develop in the context of complex adaptive processes, determined by genetic and environmental factors. Little is known about the cerebral representation of cognitive functions during development. In particular, knowledge about the development of right hemispheric (RH) functions is scarce. Considering the dynamics of brain development, localization and lateralization of cognitive functions must be expected to change with age. Twenty healthy subjects (8.6-20.5 years) were examined with fMRI and neuropsychological tests. All participants completed two fMRI tasks known to activate left hemispheric (LH) regions (language tasks) and two tasks known to involve predominantly RH areas (visual search tasks). A laterality index (LI) was computed to determine the asymmetry of activation. Group analysis revealed unilateral activation of the LH language circuitry during language tasks while visual search tasks induced a more widespread RH activation pattern in frontal, superior temporal, and occipital areas. Laterality of language increased between the ages of 8-20 in frontal (r = 0.392, P = 0.049) and temporal (r = 0.387, P = 0.051) areas. The asymmetry of visual search functions increased in frontal (r = -0.525, P = 0.009) and parietal (r = -0.439, P = 0.027) regions. A positive correlation was found between Verbal-IQ and the LI during a language task (r = 0.585, P = 0.028), while visuospatial skills correlated with LIs of visual search (r = -0.621, P = 0.018). To summarize, cognitive development is accompanied by changes in the functional representation of neuronal circuitries, with a strengthening of lateralization not only for LH but also for RH functions. Our data show that age and performance, independently, account for the increases of laterality with age.
Abstract: BACKGROUND AND PURPOSE: No controlled, randomized trial has investigated whether intravenous, intra-arterial (IAT), or mechanical thrombolysis is beneficial in children with ischemic stroke. We report 2 children who underwent IAT for acute ischemic stroke and include them in a review about intravenous thrombolysis, IAT, and mechanical thrombolysis for childhood stroke. METHODS: We searched in MEDLINE and EMBASE for studies that reported on treatment of childhood stroke with intravenous thrombolysis, IAT, or mechanical thrombolysis in the presence of occlusion of the basilar artery, sphenoidal, or insular middle cerebral artery. To be included in this review, the following findings had to be reported: (1) stroke severity at presentation; (2) cerebral imaging findings before thrombolysis; (3) time to treatment; (4) dose of the thrombolytic agent; (5) pre- and postinterventional angiographic findings in IAT; and (6) outcome assessed at hospital discharge or within 12 months after thrombolysis. RESULTS: Adequate data were available in 17 children (including our 2 own cases) who underwent intravenous thrombolysis (n=6), IAT (n=10), or mechanical thrombolysis (n=1). No symptomatic intracranial hemorrhage occurred, but 2 asymptomatic intracranial hemorrhages were present. Sixteen children (94%) survived, and 12 (71%) had a good outcome (modified Rankin Scale score 0 or 1). CONCLUSIONS: The available data about thrombolysis in pediatric stroke are limited. They suggest that this treatment may be beneficial in children with ischemic stroke. Controlled, randomized trials are needed to determine whether thrombolysis is useful in childhood stroke.
Abstract: A 13-year-old girl presented to our emergency with a one week history of fever and skin rash and new onset of chorea for the last three days. There was a long standing history of right predominant headache; followed by personality change, fatigue, arthralgia and weight loss over the last few months. Previous investigations by head CT and ophthalmological examination did not explain the symptoms. Further investigations revealed peri- and pancarditis with aortic insufficiency, a renal involvement with elevated creatinin, protein- and hematuria and a hemolytic anemia. Diagnosis of lupus eythematodes was confirmed by high ANA, anti-dsDNS and Anticardiolipin antibodies. Within the first 48 hours after admission there was significant deterioration with reduced vigilance and dysarthria. MRI of the brain and dopplersonography of cerebral vessels showed a complete thrombosis of the right medial cerebral artery with a small net of collaterals, irregularities of the left cerebral artery due to vasculitis and several subacute leftsided ischemias. Immunosuppressive therapy with high-dose corticosteroids and cyclophosphamid together with antithrombotic therapy induced an improvement of neurologic, renal and cardiac function.
Abstract: Over the last decade, increasing evidence of cognitive functions of the cerebellum during development and learning processes could be ascertained. Posterior fossa malformations such as cerebellar hypoplasia or Joubert syndrome are known to be related to developmental problems in a marked to moderate extent. More detailed analyses reveal special deficits in attention, processing speed, visuospatial functions, and language. A study about Dandy Walker syndrome states a relationship of abnormalities in vermis lobulation with developmental problems. Further lobulation or volume abnormalities of the cerebellum and/or vermis can be detected in disorders as fragile X syndrome, Downs's syndrome, William's syndrome, and autism. Neuropsychological studies reveal a relation of dyslexia and attention deficit disorder with cerebellar functions. These functional studies are supported by structural abnormalities in neuroimaging in these disorders. Acquired cerebellar or vermis atrophy was found in groups of children with developmental problems such as prenatal alcohol exposure or extreme prematurity. Also, focal lesions during childhood or adolescence such as cerebellar tumor or stroke are related with neuropsychological abnormalities, which are most pronounced in visuospatial, language, and memory functions. In addition, cerebellar atrophy was shown to be a bad prognostic factor considering cognitive outcome in children after brain trauma and leukemia. In ataxia teleangiectasia, a neurodegenerative disorder affecting primarily the cerebellar cortex, a reduced verbal intelligence quotient and problems of judgment of duration are a hint of the importance of the cerebellum in cognition. In conclusion, the cerebellum seems to play an important role in many higher cognitive functions, especially in learning. There is a suggestion that the earlier the incorrect influence, the more pronounced the problems.
Abstract: Rationale: To provide a better understanding of cognitive functioning, motor outcome, behavior and quality of life after childhood stroke and to study the relationship between variables expected to influence rehabilitation and outcome (age at stroke, time elapsed since stroke, lateralization, location and size of lesion). Methods: Children who suffered from stroke between birth and their eighteenth year of life underwent an assessment consisting of cognitive tests (WISC-III, WAIS-R, K-ABC, TAP, Rey-Figure, German Version of the CVLT) and questionnaires (Conner's Scales, KIDSCREEN). Results: Twenty-one patients after stroke in childhood (15 males, mean 11;11 years, SD 4;3, range 6;10-21;2) participated in the study. Mean Intelligence Quotients (IQ) were situated within the normal range (mean Full Scale IQ 96.5, range IQ 79-129). However, significantly more patients showed deficits in various cognitive domains than expected from a healthy population (Performance IQ p = .000; Digit Span p = .000, Arithmetic's p = .007, Divided Attention p = .028, Alertness p = .002). Verbal IQ was significantly better than Performance IQ in 13 of 17 patients, independent of the hemispheric side of lesion. Symptoms of ADHD occurred more often in the patients' sample than in a healthy population (learning difficulties/inattention p = .000; impulsivity/hyperactivity p = .006; psychosomatics p = .006). Certain aspects of quality of life were reduced (autonomy p = .003; parents' relation p = .003; social acceptance p = .037). Three patients had a right-sided hemiparesis, mean values of motor functions of the other patients were slightly impaired (sequential finger movements p = .000, hand alternation p = .001, foot tapping p = .043). In patients without hemiparesis, there was no relation between the lateralization of lesion and motor outcome. Lesion that occurred in the midst of childhood (5-10 years) led to better cognitive outcome than lesion in the very early (0-5 years) or late childhood (10-18 years). Other variables such as presence of seizure, elapsed time since stroke and size of lesion had a small to no impact on prognosis. Conclusion: Moderate cognitive and motor deficits, behavioral problems, and impairment in some aspects of quality of life frequently remain after stroke in childhood. Visuospatial functions are more often reduced than verbal functions, independent of the hemispheric side of lesion. This indicates a functional superiority of verbal skills compared to visuospatial skills in the process of recovery after brain injury. Compared to the cognitive outcome following stroke in adults, cognitive sequelae after childhood stroke do indicate neither the lateralization nor the location of the lesion focus. Age at stroke seems to be the only determining factor influencing cognitive outcome.
Abstract: In contrast to malformations, cerebellar disruptions have attracted little interest in the literature. We draw attention for the first time to the hypothesis that cerebellar clefts are residual changes following a prenatal cerebellar insult, and represent disruptions. We reviewed the clinical records and MR findings of six patients with a cerebellar cleft, two of whom also had prenatal MRI at 24 weeks of gestation. The clefts were located in the left cerebellar hemisphere in five cases, in the right in one patient. Other typical findings included disorderly alignment of the cerebellar folia and fissures, irregular gray/white matter junction, and abnormal arborization of the white matter in all patients. The cerebellar cleft extended into the fourth ventricle in three cases, and in two children cystic cortical lesions were seen. Supratentorial schizencephaly was found in two patients. In two patients there was a documented fetal cerebellar hemorrhage at 24 weeks of gestation. We conclude that cerebellar clefts are residual changes resulting from a prenatal cerebellar insult and consequently represent disruptions rather than primary malformations. The supratentorial findings are also in agreement with an acquired lesion. The outcome in these children was variable, mainly depending of the presence of supratentorial lesions.
Abstract: BACKGROUND: Treatment of patients with attention deficit hyperactivity disorder (ADHD) with homeopathy is difficult. The Swiss randomised, placebo controlled, cross-over trial in ADHD patients (Swiss ADHD trial) was designed with an open-label screening phase prior to the randomised controlled phase. During the screening phase, the response of each child to successive homeopathic medications was observed until the optimal medication was identified. Only children who reached a predefined level of improvement participated in the randomised, cross-over phase. Although the randomised phase revealed a significant beneficial effect of homeopathy, the cross-over caused a strong carryover effect diminishing the apparent difference between placebo and verum treatment. METHODS: This retrospective analysis explores the screening phase data with respect to the risk of failure to demonstrate a specific effect of a randomised controlled trial (RCT) with randomisation at the start of the treatment. RESULTS: During the screening phase, 84% (70/83) of the children responded to treatment and reached eligibility for the randomised trial after a median time of 5 months (range 1-18), with a median of 3 different medications (range 1-9). Thirteen children (16%) did not reach eligibility. Five months after treatment start, the difference in Conners Global Index (CGI) rating between responders and non-responders became highly significant (p = 0.0006). Improvement in CGI was much greater following the identification of the optimal medication than in the preceding suboptimal treatment period (p < 0.0001). CONCLUSIONS: Because of the necessity of identifying an optimal medication before response to treatment can be expected, randomisation at the start of treatment in an RCT of homeopathy in ADHD children has a high risk of failure to demonstrate a specific treatment effect, if the observation time is shorter than 12 months.
Abstract: We report 24 children (14 girls) who presented with the typical neuroimaging findings of pontocerebellar hypoplasia (PCH) to describe the clinical spectrum of type 2. Twenty-one presented with the classical form described by Barth; characteristic features (15/21) were breathing and/or sucking problems during neonatal period and early onset hyperkinetic movement disorder. Eighteen were normocephalic at birth, but all developed microcephaly during infancy. Development was severely affected with none of the children being capable of sitting, walking, or talking. Social contact and visual fixation were persistently poor. Dyskinetic movement disorder was present in all, in some together with mild spasticity. Seizures occurred in 14 (in 7 as neonates). Eight children died (age 1 day-6 years). Neuroimaging showed an absent or severely flattened pons, different degrees of vermian hypoplasia, with cerebellar hemispheres (wing-like structures) being equally or more affected. Three (all girls) were less severely affected clinically and did not develop the dyskinetic movement disorder, motor and cognitive development were somewhat better. Microcephaly was also a prominent sign. Severity of pontocerebellar neuroimaging findings did not differentiate between the typical and atypical clinical group and did not correlate with clinical outcome.
Abstract: Over the last decade, increasing evidence of cognitive functions of the cerebellum during development and learning processes could be ascertained. Posterior fossa malformations such as cerebellar hypoplasia or Joubert syndrome are known to be related to developmental problems in a marked to moderate extent. More detailed analyses reveal special deficits in attention, processing speed, visuospatial functions and language. A study about Dandy Walker syndrome states a relationship of abnormalities in vermis lobulation with developmental problems. Further lobulation or volume abnormalities of the cerebellum and/or vermis can be detected in disorders as fragile X syndrome, Downs's syndrome or William's syndrome. Neuropsychological studies reveal a relation of dyslexia and attention deficit disorder with cerebellar functions. These functional studies are supported by structural abnormalities in neuroimaging in these disorders. Acquired cerebellar or vermis atrophy was found in groups of children with developmental problems such as prenatal alcohol exposure or extreme prematurity. Also focal lesions during childhood or adolescence such as cerebellar tumour or stroke are related with neuropsychological abnormalities, which are most pronounced in visuo-spatial, language and memory functions. In addition, cerebellar atrophy was shown to be a bad prognostic factor considering cognitive outcome in children after brain trauma and leukaemia. In ataxia teleangiectasia, a neurodegenerative disorder affecting primarily the cerebellar cortex, a reduced verbal IQ and problems of judgment of duration are a hint of the importance of the cerebellum in cognition. In conclusion, the cerebellum seems to play an important role in many higher cognitive functions especially in learning. There is a suggestion that the earlier the incorrect influence the more pronounced the problems.
Abstract: AIM: The aim of this study was to obtain information about neurological and cognitive outcome for a population-based group of children after paediatric ischaemic stroke. METHODS: Data from the Swiss neuropaediatric stroke registry (SNPSR), from 1.1.2000 to 1.7.2002, including children (AIS 1) and neonates (AIS 2). At 18-24 months after a stroke, a follow-up examination was performed including a history, neurological and neuropsychological assessment. RESULTS: 33/48 children (22 AIS 1, 11 AIS 2) participated in the study. Neurological outcome was good in 16/33. After childhood stroke mean IQ levels were normal (94), but 6 children had IQ < 85 (50-82) and neuropsychological problems were present in 75%. Performance IQ (93) was reduced compared to verbal IQ (101, p = 0.121) due to problems in the domain of processing speed (89.5); auditory short-term memory was especially affected. Effects on school career were common. Outcome was worse in children after right-sided infarction. Children suffering from stroke in mid-childhood had the best prognosis. There was no clear relationship between outcome and localisation of the lesion. After neonatal stroke 7/11 children showed normal development and epilepsy indicated a worse prognosis in the remaining 4. CONCLUSION: After paediatric stroke neuropsychological problems are present in about 75% of children. Younger age at stroke as well as an emergence of epilepsy were predictors for worse prognosis.
Abstract: We report the results of three years of the population-based, prospective Swiss NeuroPaediatric Stroke Registry (SNPSR) of children (up to 16 years) with childhood arterial ischaemic stroke (AIS1), neonatal stroke (AIS2), or symptomatic sinus venous thrombosis (SVT). Data on risk factors (RF), presentation, diagnostic work-up, localisation, and short-term neurological outcome were collected. 80 children (54 males) have been included, 40 AIS1, 23 AIS2, and 17 SVT. The data presented will be concentrated on AIS. The presentation for AIS1 was hemiparesis in 77% and cerebellar symptoms and seizures in 20%, respectively. AIS2 presented in 83% with seizures and in 38% with abnormality of muscle tone. Two or more RF were detected in 54%, one RF in 35%. The most prominent RF for AIS1 were infections (40%), followed by cardiopathies and coagulopathies (25% each). AIS2 were frequently related to birth problems. Neurological outcomes in AIS1 and AIS2 were moderate/severe in 45 % and 32 %, respectively. The outcome correlated significantly with the size of infarction (p = 0.013) and age at stroke (p = 0.027). The overall mortality was 6%. Paediatric stroke is a multiple risk problem, which leads to important long-term sequelae.
Abstract: Respiratory disorders with stridor are a frequent cause of admission for children in an emergency department. Laryngospasm, as an isolated symptom of epilepsy, is a rare phenomenon [1, 3, 5]. Other respiratory symptoms of epilepsy, rarely seen in childhood, might be apnoeic spells [2, 4]. We report on a child with laryngospasm due to focal epileptic seizures.
Abstract: Status epilepticus and stroke are life-threatening neurological emergencies and immediate recognition and medical management are imperativ. There is a serious risk of neurological sequelae. To limit secondary brain damage a prolonged seizure has to be treated without delay. After a short history and clinical evaluation (principles of resuscitation) a benzodiazepine (usually diazepam or lorazepam) has to be administered and in case of persistence of seizure-activity phenytoin or phenobarbital. Blood- and urine-sample must be collected in the acute phase to perform further metabolic or toxic examinations. A paralysis with acute onset is suspicious for ischaemic or haemorrhagic stroke. A precise neurological examination is mandatory for accurate neuroradiological work-up and to initiate appropriate investigations for risk factors. These patients require an immediate interdisciplinary treatment in a tertiary care centre with neuropaediatry, neuroradiology and neurosurgery.
Abstract: An increasing number of parents turn to homeopathy for treatment of their hyperactive child. Two publications, a randomised, partially blinded trial and a clinical observation study, conclude that homeopathy has positive effects in patients with attention deficit hyperactivity disorder (ADHD). The aim of this study was to obtain scientific evidence of the effectiveness of homeopathy in ADHD. A total of 83 children aged 6-16 years, with ADHD diagnosed using the Diagnostic and Statistical Manual of Mental Disorders-IV criteria, were recruited. Prior to the randomised, double blind, placebo controlled crossover study, they were treated with individually prescribed homeopathic medications. 62 patients, who achieved an improvement of 50% in the Conners' Global Index (CGI), participated in the trial. Thirteen patients did not fulfill this eligibility criterion (CGI). The responders were split into two groups and received either verum for 6 weeks followed by placebo for 6 weeks (arm A), or vice-versa (arm B). At the beginning of the trial and after each crossover period, parents reported the CGI and patients underwent neuropsychological testing. The CGI rating was evaluated again at the end of each crossover period and twice in long-term follow-up. At entry to the crossover trial, cognitive performance such as visual global perception, impulsivity and divided attention, had improved significantly under open label treatment (P<0.0001). During the crossover trial, CGI parent-ratings were significantly lower under verum (average 1.67 points) than under placebo (P =0.0479). Long-term CGI improvement reached 12 points (63%, P <0.0001). CONCLUSION: The trial suggests scientific evidence of the effectiveness of homeopathy in the treatment of attention deficit hyperactivity disorder, particularly in the areas of behavioural and cognitive functions.
Abstract: Over the last few years, the importance of paediatric stroke has become more and more evident; however, there is still little known about long-term neurological and especially neuropsychological outcome of these children. By retrospective chart review, questionnaire and clinical examination with structured interview, we analysed initial presentation, aetiology and long-term outcome of children suffering ischaemic childhood stroke between 1985 and 1999. A total of 20 children (13 boys) suffered acute arterial ischaemic events. Aetiology was detected in 14, and suspected in another five. Follow-up after 1-15 years (mean 7 years) was possible for 16 children; two had died and two were lost to follow-up. Only two were completely healthy, five suffered mild, six moderate, and three severe handicap. Eleven children presented with combined neurological and neuropsychological problems. Neurological problems were mild to moderate hemisyndrome in 11, dysphasia, epilepsy and other in six each. Mild to severe neuropsychological problems were detected in 13 children, school problems in eight, attention deficits in nine and behaviour problems in seven, increased fatigability and headache in six each. Recurrence was observed in three children, all due to progressive underlying disease. Outcome was most affected by the presence of combined cortical/subcortical and least affected by subcortical infarction. Epilepsy affected neuropsychological outcome. CONCLUSION: although prognosis of paediatric stroke is better than for adult stroke, neurological and especially neuropsychological long-term problems significantly influence the lives of these children. Careful long-term follow-up to support these children in their school career and integration into professional life is necessary. Future studies should evaluate whether specific treatments during the acute episode could improve outcome for these children.
Abstract: Conditions associated with arterial ischaemic stroke in children include a great variety of diseases and triggers such as congenital heart malformations, sickle cell disease, infections and vasculopathies, although up to 50% are cryptogenic. An abnormal vascular status can be demonstrated by vascular imaging in up to 80% of children with ischaemic stroke, and case control studies demonstrate an association between ischaemic stroke in children and hereditary prothrombotic risk factors and infections such as Varicella. Conventional risk factors such as hypertension and dyslipidaemia may also play a role, and most children have several potential triggers rather than one single cause. This review focuses on clinical presentations, imaging methods, stroke subtypes, underlying conditions including prothrombotic risk factors, outcome and recurrence. Although data from randomised controlled trials, on which clinical practice might be based, are sparse, therapeutic approaches and future research directions are discussed.
Abstract: Diffusion-weighted imaging (DWI) allows us to image the motion of tissue water. This has been used to demonstrate acute ischaemia. Diffusion imaging is also sensitive to water movement along neuronal tracts. Our objective was to map brain maturation in vivo using maps of apparent diffusion coefficient (ADC). We studied 22 children without neurological disease aged between 2 and 720 days. MRI was performed at 1.5 tesla. Multislice single-shot echoplanar DWI was performed at b 0 and 1000 s/mm(2). ADC maps were generated automatically and measurements were performed in the basal ganglia, frontal and temporal white matter and the pons. There was a decrease over time in water diffusion in the areas examined, most marked in the frontal (0.887-1.898 x 10(-3) mm(2)/s) and temporal (1.077-1.748 x 10(-3) mm(2)/s)lobes. There was little change, after an initial decrease, in the basal ganglia (0.690-1.336 x 10(-3) mm(2)/s). There was a difference in water diffusion between the anterior (0.687-1.581 x 10(-3) mm(2)/s) and posterior (0.533-1.393 x 10(-3) mm(2)/s) pons. These changes correlate well with those observed in progressive myelination: the increased water content probably reflects incomplete myelination and the decrease with time in water motion reflects the increase in myelinated brain.
Abstract: We describe extended and repeat magnetic resonance (MR) examinations in the case of a 16-year-old male who developed acute left-sided sensorimotor hemiplegia after a single dose of inhaled heroin. MRI revealed symmetrical hyperintense signals in T 2 -weighted images and massive diffusion disorders in the diffusion weighted images predominantly in parieto-occipital subcortical white matter and both ventral globi pallidi with preservation of U fibers and no brain oedema. MR spectroscopy data were compatible with combined hypoxic and mitochondrial damage resulting in axonal injury without demyelination. Normal values and variations had been obtained from spectra of five age-matched subjects. This is the first reported MR follow-up study of leukoencephalopathy occurring acutely after a first inhaled dose of heroin. We postulate that toxic spongiform leukoencephalopathy in heroin addicts may be the outcome of a complex mechanism directly triggered by heroin and causing mitochondrial as well as hypoxic injury in specific and limited areas of white matter.
Abstract: We report a case of acute near-fatal cerebellar swelling, which was accompanied by multifocal cerebellar necrosis. Acute, near-fatal cerebellar swelling is a rare problem thought to be of parainfectious aetiology. Initiation by multifocal cerebellar necrosis has not been reported so far with this disorder.
Abstract: During the last decades important progress in knowledge of hereditary neuromuscular problems could be achieved. Unfortunately, therapeutic management has not yet improved significantly, but diagnostic investigations have become less invasive for most disorders. For the clinician, the most important problem is still realizing that the complains of the patient could be a symptom of a neuromuscular problem. This should be followed by a careful history and clinical examination, to achieve a topical diagnosis (from motoneuron to muscle) and if ever possible already a clinical suspicion of the diagnosis. Investigations like neurophysiological technics, lab investigations, forearm ischemic exercise test or even muscular biopsy might be helpful to achieve this goal. Nowadays verification of the diagnosis is done in most cases by genetic DNA testing or by specific immunohistochemical staining or enzyme determination in muscular biopsy. This diagnostic way enhances the importance of history and clinical examination even in today's modern neurology.
Abstract: The importance of the cerebellum for non-motor functions is becoming more and more evident. The influence on cognitive functions from acquired cerebellar lesions during childhood, however, is not well known. We present follow-up data from 24 patients, who were operated upon during childhood for benign cerebellar tumours. The benign histology of these tumours required neither radiotherapy nor chemotherapy. Post-operatively, these children were of normal intelligence with a mean IQ of 99.1, performance intelligence quotient (PIQ) of 101.3 and verbal intelligence quotient (VIQ) of 96.8. However, 57% of patients showed abnormalities in subtesting. In addition, more extensive neuropsychological testing revealed significant problems for attention, memory, processing speed and interference. Visuo-constructive problems were marked for copying the Rey figure, but less pronounced for recall of the figure. Verbal fluency was more affected than design fluency. Behavioural deficits could be detected in 33% of patients. Attention deficit problems were marked in 12.5%, whereas others demonstrated psychiatric symptoms such as mutism, addiction problems, anorexia, uncontrolled temper tantrums and phobia. Age at tumour operation and size of tumour had no influence on outcome. Vermis involvement was related to an increase in neuropsychological and psychiatric problems. The observation that patients with left-sided cerebellar tumours were more affected than patients with right-sided tumours is probably also influenced by a more pronounced vermian involvement in the former group. In summary, this study confirms the importance of the cerebellum for cognitive development and points to the necessity of careful follow-up for these children to provide them with the necessary help to achieve full integration into professional life.
Abstract: We report on a 12-year-old boy with neurofibromatosis type 1 who suffered a transient ischemic attack. Angiography revealed occlusion of intracranial arteries, moyamoya vessels and leptomeningeal collaterals. The conventional T2-weighted and the diffusion-weighted MRI images demonstrated no pathology. Dynamic first-pass postgadolinium T2* perfusion-weighted MRI depicted altered hemodynamics in the vascular territory of the left middle cerebral artery, which defined this region as ischemic tissue at risk. The patient suffered a repeat transient ischemic attack 5 days later.
Abstract: OBJECTIVE: We used coherence analysis to test for leading discharges on an ipsilateral right mesial temporal lesion in a 5 year old boy with flexor spasms. METHOD: Digital EEG analysis with video-EEG telemetry was performed preparatory to epilepsy surgery. RESULTS: Study of 10 spasms with head drop and subsequent flexion of both arms demonstrated an interhemispheric time lag with secondary bilateral synchrony, with a mean difference of 17 ms. The right hemisphere led. After a lesionectomy with resection of epileptic regions (performed with electrocorticographical guidance), the patient has been seizure-free for 4 years. Pathology confirmed a low-grade mixed glioma and cortical dysgenesis. CONCLUSION: The coherence analysis demonstrated a pathway of secondary generalization, confirming that the lesional side was leading during ictal generalized discharges in flexor spasms.
Abstract: We describe two boys who had severe spinal complications in adolescence after a favorable initial recovery from neonatal Escherichia coli meningitis. Due to spinal granulomatous adhesions, one boy died after an attempted scoliosis operation (high cord lesion). The other showed severe progressive neurological deterioration with spinal and cerebellar symptoms. Conclusion The severe complication of chronic arachnoiditis with spinal adhesion may occur many years after neonatal acute bacterial meningitis.
Abstract: OBJECTIVE: To report neuropsychologic functions and developmental problems of patients with congenital nonprogressive cerebellar ataxia. BACKGROUND: Growing interest in cerebellar function has prompted closer attention to cognitive impairments in patients with cerebellar damage. METHODS: The authors studied 11 patients with nonprogressive congenital ataxia (NPCA) with Wechsler's intelligence testing, with additional tests of attention, memory, language, visual perception, and frontal functions. RESULTS: Seven of the 11 patients had an IQ of 60 to 92, with marked nonverbal deficits and subnormal to normal verbal performance (group A). Four patients had an IQ of 30 to 49 without pronounced profile asymmetry (group B). Four of the 7 group A patients had decreased alertness and sustained attention, but all had normal selective attention. Tests of frontal functions and memory yielded higher verbal scores than nonverbal scores. There was no deficit on the Aachener Naming Test (similar to the Boston Naming Test), because there were marked difficulties in the majority with visuoconstructive tasks and visual perception. Group B was significantly abnormal in almost all subtests, having a less prominent but similar profile. CONCLUSION: Patients with NPCA have significant cognitive deficits with an asymmetric profile and better verbal than nonverbal performance. Effects on nonverbal performance of longstanding deficits in visuospatial input during learning, the influence of impaired procedural learning, and asymmetric plasticity of the cerebral hemispheres may contribute to this uneven neuropsychological profile.
Abstract: Congenital ataxias (CA) are rare, predominantly non-progressive syndromes characterized by marked hypotonia, developmental delay followed by the appearance of ataxia. Most children show marked speech and cognitive developmental problems. Non- progressive CA (NPCA) can be divided into pure CA without additional symptoms and syndromes with CA. Pure CA can be due to cerebellar malformations as (hereditary or non-hereditary) cerebellar hypoplasia, Dandy Walker syndrome, or occasionally supratentorial abnormalities. Ataxic syndromes are less frequent, but more distinctive. There are syndromes (e.g. Joubert syndrome) where ataxia is a cardinal feature and others where ataxia is only an occasional symptom. Acquired ataxias, due to congenital cytomegalovirus infection or perinatal problems, form a small third group. In about half of all cases with NPCA, aetiology and inheritance are still unknown. Diagnosis of NPCA is made by a typical history and careful clinical examination. Diagnosis of a more distinctive ataxic syndrome may be possible on clinical grounds. Neuroimaging with special attention to the posterior fossa will aid accurate clinical classification. Early progressive ataxias require careful differentiation from other types.
Abstract: Information on the long-term development of larger series of children with non-progressive congenital ataxia (NPCA) is scarce. We have updated a personal cohort of subjects previously diagnosed as having NPCA. Children with brain malformations, acquired neurological illness, or defined syndromes were excluded. From 58 subjects, 34 were available for review (including three pairs of siblings). All our subjects had delayed motor and speech development. Truncal ataxia persisted but became less significant. Two subjects developed spasticity and three a focal dystonia. Epilepsy was a feature in 10 of the subjects. Cognitive impairment was present in 22 of 34 subjects. MRI was normal in 15 of 27. There were no obvious correlations between degree of motor delay, severity of ataxia, cognitive impairment, and neuroimaging. Although genetically and clinically not a homogeneous entity, NPCA is a helpful diagnostic label. Major problems arise in the majority of subjects related to cognitive impairment and less to neurological symptoms. Early individual prognosis is not possible from early developmental milestones, neurological signs, or neuroimaging.
Abstract: Congenital cerebellar ataxia is usually thought to be of cerebellar origin. We report two children with congenital cerebellar ataxia, in whom neuroimaging investigations suggest the possibility of a parietal etiology. The two boys showed hypotonia, delayed motor and cognitive development followed by marked, truncally pronounced ataxia. In one case infantile spasms were treated successfully with adrenocorticotropic hormone, although in follow-up the child suffered from occasional seizures. Magnetic resonance imaging showed in one case parieto-occipital pachygyria and in the other there was marked pachygyria, most pronounced over the parieto-occipital area. In both children cerebellar structures were normal. Cerebello-parietal connections are known to be responsible for acquired parietal limb ataxia. Although not proven, parietal lesions are the most likely etiology of congenital cerebellar ataxia in these two children. Therefore, cerebral, especially parietal pathology must be considered in children with congenital ataxia.
Abstract: Inborn errors of metabolism can affect the cerebellum during development, maturation and later during life. We have established criteria for pattern recognition of cerebellar abnormalities in metabolic disorders. The abnormalities can be divided into four major groups: cerebellar hypoplasia (CH), hyperplasia, cerebellar atrophy (CA), cerebellar white matter abnormalities (WMA) or swelling, and involvement of the dentate nuclei (DN) or cerebellar cortex. CH can be an isolated typical finding, as in adenylsuccinase deficiency, but is also occasionally seen in many other disorders. Differentiation from CH and CA is often difficult, as in carbohydrate deficient glycoprotein syndrome or 2-L-hydroxyglutaric acidaemia. In cases of atrophy the relationship of cerebellar to cerebral atrophy is important. WMA may be diffuse or patchy, frequently predominantly around the DN. Severe swelling of white matter is present during metabolic crisis in maple syrup urine disease. The DN can be affected by metabolite deposition, necrosis, calcification or demyelination. Involvement of cerebellar cortex is seen in infantile neuroaxonal dystrophy. Changes in DN and cerebellar cortex are rather typical and therefore most helpful; additional features should be sought as they are useful in narrowing down the differential diagnosis.
Abstract: New antiepileptic drugs designed for enhancing GABAergic inhibition, such as vigabatrin (VGB) may be effective in Angelman syndrome (AS), because associated convulsions could be related to a reduced GABA-receptor density or receptor abnormality. From our preliminary experiences in four children with AS treated with VGB, we conclude that it may induce and increase seizures in patients with AS.
Abstract: Most epileptiform abnormalities show a negative polarity on EEG. Focal positive spike waves have rarely been identified in seizure disorders and are generally associated with physiological and neurological impairment. Results of EEG, computed tomography, MRI, and pathologic studies of 15 children with focal neuronal migration disorders who underwent surgery for refractory localization-related epilepsy were compared to examine the association between positive discharges and other findings. Subjects were studied both ictally and interictally by scalp EEG with the International 10-20 system and zygomatic or sphenoidal electrodes, and video EEG telemetry. The 5 children with positive discharges were significantly more likely to develop hemiparesis during the preoperative period (P < or = .025). Correlations were observed between positive discharges and lesions apparent on MRI situated around the rolandic fissure (P < or = .025). Children with positive discharges had a significantly less favorable outcome after surgical treatment (P < or = .025). Positive epilepti-form discharges in children with neuronal migration disorders may signal a more dysfunctional cortex leading to a focal neurological deficit or a more extended lesion than is detected on MRI. This would explain the less favorable outcome of seizures after surgery, since the epileptogenic areas and neuronal migration lesions cannot be completely resected.
Abstract: Although Joubert syndrome (JS) was first reported in 1969 by Joubert et al (21), the long-term outcome is not yet documented. We report 19 children (4 pairs of siblings) from a single institution diagnosed with JS. Nine children were last seen between ages 10 and 18 years, seven between ages 1 and 4 years. Three children died before 3 years of age, showing marked breathing problems and minimal development. The 16 surviving children showed variable motor development, walking was typically achieved between 2 and 10 years, two children did not learn to walk. Cognitive development showed four with development quotient (DQ) of 30 or less and nine with DQ of 60-85, the others could not be judged confidently. Siblings did not show similar development and sex was not predicting outcome. The following oculomotor problems were seen: mystagmus in 11, ocular motor apraxia in six, isolated ptosis in two, and vertical gaze palsy in three. Additional features were retinal involvement in eight and kidney involvement in four, in one of them after normal previous ultrasound. In conclusion development of children with JS can be split into distinct subgroups, with one group dying at a young age. Those who survive show variable motor and cognitive development and can be grouped into those with DQ of less than 30 or those with DQ between 60 and 85. Ophthalmological and renal involvement may change or develop over the years and should be followed carefully.
Abstract: OBJECTIVE: To build models that predict severe adverse outcome within 4 hours of birth in patients with postasphyxial hypoxic-ischemic encephalopathy. The goal was to develop models for selecting patients for therapeutic trials of neuroprotective medications. STUDY DESIGN: Retrospective cohort study with follow-up to a minimum age of 12 months of 164 "outborn" term infants admitted to a tertiary neonatal intensive care unit, and 14 "inborn" term infants in the two tertiary perinatal centers in a regionalized setting. After performing univariate screening tests, multivariate models of association between risk factors and "severe adverse outcome" (death or major neurosensory impairment) were constructed. RESULTS: Of 178 infants with postasphyxial hypoxic-ischemic encephalopathy of defined severity admitted consecutively between 1985 and 1992, 48 died, 40 survived with major neurosensory impairment, and 13 were lost to follow-up. The important predictors of severe adverse outcome in the first 4 hours were delayed onset of breathing, administration of chest compressions, and seizures. At 60 minutes of age, based on predicted probabilities of > 0.50, the sensitivity of the predictive model was 85% and specificity 68%. The parameter estimates of the predictive models are reported. CONCLUSIONS: Age of onset of breathing, administration of chest compressions, and age of onset of seizures were the most important variables predictive of adverse outcome in this study. Although fairly sensitive and specific, these predictive models should be applied with caution. To build more accurate models, a template for the conduct of a large, multicenter prospective study is provided.
Abstract: Back pain in children is a rare but serious problem. The varied etiologies and the necessary diagnostic workup are illustrated in 8 children. Infectious processes were found in 3 children, spondylodiscitis twice and epidural abscess once. Tumours (one eosinophilic granuloma and one spinal ependymoma) were present in 2 boys. One girl had a herniated lumbar disc. Malformations (spondylolysis and diastematomyelia) were the cause of symptoms in 2 children. Leading symptom in all 8 children was back pain lasting from 3 days to 2 years. Careful clinical neurological examination, parameters of inflammation in the blood and conventional radiography of the spine were helpful in guiding further investigations. Scintigraphy was useful for localization of infectious and tumorous diseases. MRI was superior to CT in evaluating tumours and malformations of the spinal cord. In most cases CT was sufficient in workup of infectious and osseous processes.
Abstract: We describe three children with unilateral cerebellar aplasia (UCA). Deliveries at term and neonatal periods were uneventful. Pregnancy was normal in one and complicated by mild bleeding (in second and fourth month respectively) in two instances. Presenting signs were delayed motor development with marked contralateral torticollis (n = 1), hemiplegia (n = 1) and unusual head nodding (n = 1). Neuroradiological investigations revealed complete aplasia (n = 1) and subtotal aplasia (n = 2) of one cerebellar hemisphere with only a residual wing-like structure below the tentorium. There was contralateral underdevelopment of the brainstem. The infant with hemiplegic cerebral palsy had an additional supratentorial periventricular parenchymal defect, contralateral to the cerebellar hypoplasia. In view of literature reports, describing similar neuroradiological or neuropathological findings in asymptomatic individuals, it is doubtful whether UCA is responsible for our patient's problems. In our cases UCA has presumably resulted from a prenatal destructive lesion, possibly an infarct, but the timing and exact nature are unknown.
Abstract: Fetal Cytomegalovirus (CMV) infection in early pregnancy usually results in severe neurological handicap and sensorineural hearing loss with typical neuroradiological findings of calcification, migrational anomalies, disturbed myelination, and cerebellar hypoplasia. Infections acquired in late pregnancy have less prominent signs, such as microcephaly, hearing deficits, and minor neurological handicap. We report 7 children who presented with a similar clinical complex of signs: microcephaly, sensorineural hearing impairment, behavior problems with hyperactivity, reduced apprehension for pain in 5 of the 7, ataxia in 3, and hypotonia with clumsiness in 3 others. All manifested mild to severe developmental problems. Cranial CT revealed calcification in 4 of 6 patients. MRI in all 7 children showed patchy to confluent nonprogressive dysmyelination. Only 2 children had acute neonatal signs of congenital CMV infection. We assume that these children acquired CMV infection in the third trimester of gestation, leading to microcephaly, hearing loss, and neurological and developmental problems with typical neuroradiological signs.
Abstract: In a retrospective review, the eye symptoms of 17 children (mean age: 13 1/2 years) who had definite multiple sclerosis (Poser's criteria) and 15 who had probable multiple sclerosis over the last 18 years were evaluated. Follow-up varied from 3 weeks to 6 years. Of 94% of children (16 of 17) with ophthalmologic symptoms, 47% (8 of 17) presented with an initial disturbance of vision. Twelve children had optic neuritis, 1 progressive uveitis, and 4 brainstem symptoms (i.e., VIth nerve palsy, 1 1/2 syndrome, internuclear ophthalmoplegia). Four children had cerebellar signs (nystagmus, saccadic pursuit). In 4 children, clinical localization was less specific. Recovery was generally good in most of the children; cerebellar problems were most persistent. Multimodal potentials were more helpful for investigation of optic neuritis and cerebellar lesions than for brainstem lesions. In the cohort of probable multiple sclerosis of 15 children, 11 had eye symptoms (5 with neuromyelitis optica, 4 optic neuritis, 1 internuclear ophthalmoplegia, and 1 cerebellar symptoms). Ophthalmologic symptoms are slightly more frequent in children with multiple sclerosis than in adults and should be specifically investigated to establish the diagnosis.
Abstract: Central nervous system involvement is a common but rarely reviewed feature of pediatric systemic lupus erythematosus (SLE). We retrospectively reviewed the charts of 91 patients with pediatric SLE and using a standardized data abstraction form documented 40 patients with central nervous system (CNS-SLE) involvement. The mean age of onset of SLE was 13.3 years. In 19 patients the CNS manifestation was a presenting symptom, in 12 patients CNS involvement was present within the first year of diagnosis, and in 9 patients it took up to 7 years for CNS disease to become evident. Nineteen children (48%) manifested neuropsychiatric SLE, which included depression, concentration or memory problems, and frank psychosis. Seizures were present in 8 patients (20%), 6 had cerebral ischemic events (15%), 1 had chorea (3%), 2 had papilledema (5%), and 2 patients had a peripheral neuropathy (5%). Nine patients (22%) had severe headache consistent with lupus headache. Seven children had more than one CNS manifestation. In the investigation of CNS-SLE, computed tomography and/or magnetic resonance imaging scans were helpful in patients with focal ischemic lesions and venous sinus thrombosis. Electroencephalography was abnormal only in 33% of patients with seizure disorders and rarely helpful in patients with diffuse neuropsychiatric symptoms. Single-photon emission computed tomography scans were abnormal in most patients with neuropsychiatric SLE, especially in those with frank psychosis. The lupus anticoagulant was present in the patient with chorea and was frequently present in patients with cerebral vascular events. Long-term outcome was good: only 1 child died of cerebral hemorrhagic infarction and 3 others had significant persistent CNS deficits. The majority of patients (90%) had excellent recovery from CNS-SLE.
Abstract: The prognostic significance of magnetic resonance imaging (MRI) in the neonatal period was studied prospectively in 43 term infants with perinatal asphyxia. MRI was performed between 1 and 14 days after birth with a high field system (2.35 Tesla). Neurodevelopmental outcome was assessed by a standardized neurological examination and the Griffiths developmental test at a mean age of 18.9 months. The predictive value of the various MRI patterns was as follows: Severe diffuse brain injury (pattern AII+III; n = 7) and lesions of thalamus and basal ganglia (pattern C; n = 5) were strongly associated with poor outcome and greatly reduced head growth. Mild diffuse brain injury (pattern AI; n = 7), parasagittal lesions (B; n = 7), periventricular hyperintensity (D; n = 2), focal brain necrosis and hemorrhage (E; n = 3) and periventricular hypointense stripes (on T2-weighted images; F; n = 3) led in one third of the infants to minor neurological disturbances and mild developmental delay. Infants with normal MRI findings (G; n = 9) developed normally with the exception of one infant who was mildly delayed at 18 months. The results indicate that MRI examination during the first two weeks of life is of prognostic significance in term infants suffering from perinatal asphyxia. Severe hypoxic-ischemic brain lesions were associated highly significantly with poor neuro-developmental outcome, whereas infants with inconspicuous MRI developed normally.
Abstract: We have analyzed the MRI findings from the brains of 33 children with congenital hemiplegia. Referral of these children to our hospital was either because of neurological problems or a history of complicated birth. According to maturation-dependent pathophysiological mechanisms we have classified the lesions into the following five groups: 1. malformations/prenatal encephalo-clastic lesions, 2. periventricular leukomalacia or atrophy, 3. diencephalic lesions, 4. subcortical and cortical lesions, and 5. normal findings. Combination of lesions was not uncommon. The neuroradiologically most prominent and most expanded lesions determined the classification to the different groups. We detected malformations/encephalo-clastic lesions (Group 1) in 5 children; one of these children also presented additional lesions of Groups 2 and 3. Six children displayed periventricular leukomalacia (Group 2), and in one child in combination with diencephalic and subcortical lesions. Ten children exhibited diencephalic lesions (Group 3), in one case combined with periventricular leukomalacia. The MRI of seven children showed subcortical/cortical lesions (Group 4), in four cases extending into diencephalic structures. Two children had a combination of evenly matched periventricular, diencephalic and subcortical/cortical lesions, where it was impossible to define a principal lesion. Three children had normal MRI findings. Significantly, 8 of 33 children had bilateral lesions although presenting with hemiplegia. The large proportion of diencephalic lesions, not described in similar CT studies, and the small number of normal MRI findings show the value of MRI in evaluation of congenital hemiplegia. The ability to correlate, to some extent, neuroradiological findings of damage to developmental stage affords the conclusion that at least a third of the children in our series with congenital hemiplegia suffered prenatal damage.
Abstract: On the basis of MRI examinations in 88 neonates and infants with perinatal asphyxia, we defined 6 different patterns on T2-weighted images: pattern A--scattered hyperintensity of both hemispheres of the telencephalon with blurred border zones between cortex and white matter, indicating diffuse brain injury; pattern B--parasagittal hyperintensity extending into the corona radiata, corresponding to the watershed zones; pattern C--hyper- and hypointense lesions in thalamus and basal ganglia, which relate to haemorrhagic necrosis or iron deposition in these areas; pattern D--periventricular hyperintensity, mainly along the lateral ventricles, i.e. periventricular leukomalacia (PVL), originating from the matrix zone; pattern E--small multifocal lesions varying from hyper--to hypointense, interpreted as necrosis and haemorrhage; pattern F--periventricular centrifugal hypointense stripes in the centrum semiovale and deep white matter of the frontal and occipital lobes. Contrast was effectively inverted on T1-weighted images. Patterns A, B and C were found in 17%, 25% and 37% of patients, and patterns D, E and F in 19%, 17% and 35%, respectively. In 49 patients a combination of patterns was observed, but 30% of the initial images were normal. At follow-up, persistent abnormalities were seen in all children with patterns A and D, but in only 52% of those with pattern C. Myelination was retarded most often in patients with diffuse brain injury and PVL (patterns A and D).
Abstract: In infants with delayed or absent visual maturation a neuroradiological investigation of the brain is commonly performed in addition to neurophysiological examinations. We report our preliminary experience with magnetic resonance imaging (MRI). MRI allows a detailed anatomical assessment and an evaluation of the myelination, including the optic radiation. Following severe perinatal hypoxic-ischemic injury periventricular leukomalacia in the parieto-occipital region was a common finding. The findings in infants with or without ocular abnormalities were heterogeneous, including normal findings, nonspecific delays of cerebral myelination as well as several malformations (such as corpus callosum hypoplasia, Aicardi syndrome, septo-optic dysplasia, migration disorders). In the individual case the neuroradiological findings do not allow to draw conclusions to the visual function and prognosis. In children with Leber congenital retinal amaurosis we have observed a normal myelination of the optic radiation. In many cases, particularly if a syndromic diagnosis is reached, neuro-imaging gives useful information for prognostic and genetic counselling.
Abstract: Congenital oculomotor apraxia (COMA) was initially defined by Cogan in 1952. In this condition voluntary horizontal saccades cannot be generated, while slow horizontal pursuit movements and vertical eye movements are intact. Affected infants usually present with delayed visual and/or psychomotor development or may even appear to be blind. In the second half of the first year "compensatory" head thrust movements become apparent. While the oculomotor abnormalities tend to improve with increasing age most affected children have delayed motor and speech development. The cognitive development is commonly impaired and many children require a special scholastic education. In our personal series of 9 children we have found variable and nonspecific neuroradiological findings, including cerebellar hypoplasia, hypoplasia of corpus callosum and grey matter heterotopias. COMA has to be differentiated from acquired forms of ocular apraxia as seen in Morbus Gaucher type 3, ataxia teleangiectasia and Morbus Leigh.
Abstract: We have studied the myelination of the visual pathway by magnetic resonance imaging in seven children (aged 5 months to 16 years) with Leber congenital amaurosis. The corpus geniculatum laterale and the retrogeniculate optic radiation had a normal appearance on MRI in all patients. Therefore we conclude that normal myelination of the optic radiation, as it can be grossly assessed by MRI, can take place even with absent or greatly reduced visual sensory input.
Abstract: Frequently, the milestones of visual development are the only available parameter of visual functions in newborns and small infants. The subscale eye-hand-coordination of Griffith's Developmental Test and some single items of visuo-motor functions were assessed concerning their first occurrence in healthy AGA term and preterm infants. Term and preterm infants differed constantly, but not significantly, in favour of the term children. No sex differences could be documented. Neurologic optimality score showed significant correlations with development of visual milestones. The Griffiths subscore at 9 and 24 months showed good correlations with later cognitive functions.
Abstract: Three children, one pair of siblings and a sporadic case, with "infantile (familial) encephalopathy with cerebral calcification and leukodystrophy" are reported. Neuroimaging studies demonstrated extensive bilateral calcifications particularly in paraventricular location and within the cerebral white matter. MRI, performed in two infants, confirmed marked white matter involvement with diffuse delay of myelination. This condition can be added to the growing list of leukodystrophies.
Abstract: In 30 children suffering from severe perinatal asphyxia an attempt was made to determine the early prognostic signs of severe hypoxic-ischemic brain injury with magnetic resonance imaging (MRI). Ten early (1-4 days of age), 16 intermediate (2-4 weeks of age), and 38 late MRI (older than 1 month of age) procedures were performed on a 2.35 T MR-system. Severe cerebral necrosis was suspected by T2 hyperintensity of the white matter, with blurred limits to the cortex in early MRI, and was confirmed by T1 hyperintensity of the cortex in intermediate MRI. Severe cerebral necrosis was established at 3 months of age. Of the 11 children with this pattern (group A), 8 had severe and 3 had moderate cerebral palsy on subsequent examination. Thirteen children (group B) had normal late MRI scans; none developed severe cerebral palsy or marked mental retardation. Two children (group C) had focal ischemic lesions. Four children had intracranial hemorrhage (group D). Groups A and B did not differ in the severity of their perinatal histories and findings, suggesting that MRI during the first 3 months is of significant prognostic value.
Abstract: Magnetic resonance imaging (MRI) was performed in 33 children using a 2,35 T MR system. The intention was to determine the various types of morphological abnormalities seen in primary microcephaly and the frequency with which they occur. MRI findings were typical for cytomegalovirus infection in six patients. Cerebral malformations were found in 14 cases and patchy white matter lesions in both hemispheres in two subjects. MRI appeared to be abnormal in eight of the remaining 11 children. However, we were unable to provide an exact interpretation of the findings. All the children with MRI abnormalities with the exception of two were neurodevelopmentally deviant. Thus, MRI revealed abnormalities in the majority of infants with primary microcephaly and neurodevelopmental disturbances. It appears to be more sensitive than cranial ultrasound and computed tomography.
Abstract: We describe a 10-year-old boy with hyperprolinaemia type I and severe neurological abnormalities (mental retardation, cerebral palsy, epilepsy, nystagmus). Magnetic resonance imaging showed diffuse white matter involvement and electroretinography confirmed tapetoretinal degeneration. In view of reports in the literature, hyperprolinaemia type I may not be a benign condition, as usually assumed, but may lead to marked neurological abnormalities, particularly in affected males.
