RESUMO
This study aimed to determine whether more stable electroretinography parameters could be obtained in younger children using skin electrodes placed at the inner canthus and ears compared to using contact lens electrodes. The study included three Japanese patients (two girls and one boy) who presented with epileptic spasms before the age of 3 years. We compared the electroretinography parameters obtained with skin electrodes and contact lens electrodes. We could record reproducible results using skin ERG with a montage of electrodes placed at the inner canthus and the ear in children. Moreover, standard data for younger children were created, enabling the evaluation of electroretinography parameters recorded with skin electrodes in individual pediatric patients. The skin electroretinography using the new montage may be stable parameters for evaluating retinal function in younger children.
RESUMO
Background: Childhood epilepsy with centrotemporal spikes (CECTS) is the most common epilepsy syndrome in school-aged children. However, predictors for seizure frequency are yet to be clarified using the phase lag index (PLI) analyses. We investigated PLI of scalp electroencephalography data at onset to identify potential predictive markers for seizure times. Methods: We compared the PLIs of 13 patients with CECTS and 13 age- and sex-matched healthy controls. For the PLI analysis, we used resting-state electroencephalography data (excluding paroxysmal discharges), and analyzed the mean PLIs among all electrodes and between interest electrodes (C3, C4, P3, P4, T3, and T4) and other electrodes. Furthermore, we compared PLIs between CECTS and control data and analyzed the associations between PLIs and total seizure times in CECTS patients. Results: No differences were detected in clinical profiles or visual electroencephalography examinations between patients with CECTS and control participants. In patients with CECTS, the mean PLIs among all electrodes and toward interest electrodes were higher at the theta and alpha bands and lower at the delta and gamma bands than those in control participants. Additionally, the mean PLIs toward interest electrodes in the beta frequency band were negatively associated with seizure times (P = 0.02). Conclusion: The resting-state delta, theta, alpha, and gamma band PLIs might reflect an aberrant brain network in patients with CECTS. The resting-state PLI among the selected electrodes of interest in the beta frequency band may be a predictive marker of seizure times in patients with CECTS.
RESUMO
OBJECTIVE: This study aimed to determine the correlation between outcomes following adrenocorticotrophic hormone (ACTH) therapy and measurements of relative power spectrum (rPS), weighted phase lag index (wPLI), and graph theoretical analysis on pretreatment electroencephalography (EEG) in infants with non-lesional infantile epileptic spasms syndrome (IESS). METHODS: Twenty-eight patients with non-lesional IESS were enrolled. Outcomes were classified based on seizure recurrence following ACTH therapy: seizure-free (F, n = 21) and seizure-recurrence (R, n = 7) groups. The rPS, wPLI, clustering coefficient, and betweenness centrality were calculated on pretreatment EEG and were statistically analyzed to determine the correlation with outcomes following ACTH therapy. RESULTS: The rPS value was significantly higher in the delta frequency band in group R than in group F (p < 0.001). The wPLI values were significantly higher in the delta, theta, and alpha frequency bands in group R than in group F (p = 0.007, <0.001, and <0.001, respectively). The clustering coefficient in the delta frequency band was significantly lower in group R than in group F (p < 0.001). CONCLUSIONS: Our findings demonstrate the significant differences in power and functional connectivity between outcome groups. SIGNIFICANCE: This study may contribute to an early prediction of ACTH therapy outcomes and thus help in the development of appropriate treatment strategies.
Assuntos
Hormônio Adrenocorticotrópico , Espasmos Infantis , Lactente , Humanos , Hormônio Adrenocorticotrópico/uso terapêutico , Espasmos Infantis/diagnóstico , Espasmos Infantis/tratamento farmacológico , Resultado do Tratamento , Eletroencefalografia , Síndrome , EspasmoRESUMO
Background: Mathematical learning difficulty (MLD) during school years results from several factors, including dyscalculia. Traditional diagnostic tests for dyscalculia are time intensive and require skilled specialists. This prospective cohort study aimed to reveal that the less time intensive Fundamental Calculative Ability Test (FCAT), administered in first grade, can predict the outcome of mathematical school achievement, which was measured with the curriculum-based mathematical test for second grade (1.2 years after FCAT). Methods: A total of 362 Japanese first- and second-grade children participated. A new quick test measuring fundamental calculative abilities, the FCAT, ordinal, radix, addition, and subtraction, was conducted for the first graders (mean age: 7.1 years). Mathematical school achievement was measured during the tests [mathematics curriculum-based test in Tottori Prefecture (MCBT)] for first (MCBT-1, mean age: 7.3 years) and second graders (MCBT-2, mean age: 8.3 years). We analyzed the associations between FCAT and MCBT-1 and 2 using univariate regression analysis, and cutoff values for mathematical learning difficulty (MLD) at MCBT-2 using the rating operation curve and Youden index. MLD was set as a score of lower than 20% on the MCBT. Results: The FCAT score was significantly associated with the MCBT-1 (regression coefficient: 0.67, P < 0.001) and MCBT-2 scores (regression coefficient: 0.50, P < 0.001). A cutoff value of 47 points (deviation score: 47) at the FCAT score predicted MLD at MCBT-2 (sensitivity: 0.77, specificity: 0.73). For 62 participants with MLD at MCBT-1 score, FCAT scores below the cutoff value of 40 points (deviation score: 35) were at high risk of MLD at MCBT-2 (odds ratio: 6.2). Conclusion: The FCAT is easily conducted in a short time during regular schools and can predict mathematical school achievement. It can be used for the early diagnosis of children with mathematical problems.
RESUMO
INTRODUCTION: Cerebellar mutism syndrome is a debilitating postoperative neurological complication following posterior fossa surgery in children. It is characterized by a significant lack or loss of speech. Injury to the dentato-thalamo-cortical pathway is thought to be the main anatomical substrate of cerebellar mutism syndrome; however, few studies have investigated the physiological changes using computed electroencephalogram. CASE REPORT: Herein, we report a case of a nine-year-old girl who developed cerebellar mutism syndrome after excision of an ependymoma of the fourth ventricle and was followed up with evaluation of aphasia, gross motor function, and scalp electroencephalograms. Her language, dysmetria and gait ataxia gradually improved until day 605 after onset. Computed electroencephalogram analyses were performed for the relative power spectrum and connectivity at each frequency band. On the three electroencephalograms at days 109, 299, and 605 after onset, the relative power spectrum at the delta band transiently decreased and then increased, and the relative power spectrums at theta, beta, and gamma bands transiently increased and then decreased. Only the relative power spectrum in the alpha band continuously increased in the occipital area. Additionally, brain connectivity in the delta, beta, and gamma bands increased continuously. CONCLUSION: We report a case of cerebellar mutism syndrome with recovery of language, dysmetria and gait ataxia in 20 months. Electroencephalogram analyses indicated transient changes in the powers of brain activity and continuous improvements in connectivity during the long follow-up, reflecting the plasticity and remodeling of brain function after cerebellar mutism syndrome. Power and connectivity analyses for EEG might be a tool to investigate underlying pathophysiology of cerebellar mutism syndrome.
Assuntos
Ataxia Cerebelar , Doenças Cerebelares , Neoplasias Cerebelares , Meduloblastoma , Mutismo , Humanos , Criança , Feminino , Mutismo/complicações , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/cirurgia , Marcha Atáxica/complicações , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/etiologia , Síndrome , Eletroencefalografia , Meduloblastoma/complicações , Meduloblastoma/cirurgiaRESUMO
BACKGROUND: To clarify the differences in diaphragm thickness between male and female participants in healthy young adults with ultrasonography using the mean intima media thickness (IMT) method and to investigate the relationship between diaphragm thickness and respiratory pressure. METHODS: Twenty-nine healthy individuals (16 females and 13 males) participated in the study. Diaphragm thickness was measured at total lung capacity (TLC) and at functional residual capacity (FRC) in each participant. We measured the diaphragm thickness using a method for mean intima media thickness. Moreover, change ratio of diaphragm thickness was calculated with the diaphragm thickness at TLC and FRC. RESULTS: Mean diaphragm thicknesses at FRC in males were significantly narrower than those in females (p < 0.001). The change ratio of diaphragm thickness was significantly augmented in males compared with that in females (p < 0.001). There was a positive correlation between the change ratio of diaphragm thickness and pulmonary function data and respiratory muscle strength in healthy young adults. CONCLUSIONS: The change ratio of diaphragm thickness using the IMT method can be accurately performed with a high degree of reproducibility by clinical laboratory technicians and may be a useful indicator for evaluating diaphragm muscle strength.
Assuntos
Diafragma/anatomia & histologia , Ultrassonografia , Adulto , Espessura Intima-Media Carotídea , Diafragma/diagnóstico por imagem , Diafragma/fisiologia , Feminino , Capacidade Residual Funcional , Voluntários Saudáveis , Humanos , Masculino , Fatores Sexuais , Capacidade Pulmonar Total , Adulto JovemRESUMO
BACKGROUND: Sex-determining region Y-box 2 (SOX2) plays an important role in the early embryogenesis of the eye, forebrain, and hypothalamic-pituitary axis. Anophthalmia, microphthalmia, and hormonal abnormalities are commonly observed in patients with SOX2-related disorders. Although gait disturbance, particularly ataxic gait, has recently been observed in several cases, detailed data regarding the clinical course of gait disturbance in SOX2-related disorders are limited. CASE REPORT: A 9-year-old Japanese boy presented with focal dyskinesia only during walking and running after he started walking at the age of 3â¯years. He also exhibited intellectual disability and mild dysmorphic features, including microcephaly, micropenis, and short stature associated with hormonal abnormalities. Gait disturbance with involuntary extremity movements only during walking and running was indicative of choreoathetosis and dystonia. Genetic analysis detected a de novo heterozygous 1.0-kb deletion including SOX2 at 3q26.32, as described in a previous technical paper. CONCLUSIONS: SOX2-related disorders should be considered in patients with some anomalies having a differential diagnosis of dyskinesia. Focal dyskinesia only during walking and running may be a characteristic feature of SOX2-related disorders.
Assuntos
Distonia/genética , Transtornos Neurológicos da Marcha/genética , Transtornos dos Movimentos/genética , Fatores de Transcrição SOXB1/genética , Criança , Anormalidades Craniofaciais/genética , Deficiências do Desenvolvimento/genética , Humanos , Deficiência Intelectual/genética , Masculino , Deleção de Sequência , SíndromeRESUMO
Pitt-Hopkins syndrome is a rare genetic disease, characterised by severe intellectual disability, distinctive dysmorphic features, epilepsy and distinctive breathing abnormalities during wakefulness. Here, we describe the case of a 22-year-old woman with Pitt-Hopkins syndrome who presented with intractable generalised tonic seizures from the age of 11 years, which increased in frequency with age and onset of menstruation despite usage of some anticonvulsant drugs. From the age of 16 years, polysomnography and video-EEG led to the detection of frequent epileptic apnoea during sleep. Although the frequency of generalised tonic seizure clusters was reduced by treatment with phenobarbital and potassium bromide, epileptic apnoea persisted. Furthermore, frequent epileptic apnoea observed in our patient was regarded as a factor for aspiration and deterioration of respiratory function. This study indicates that patients with Pitt-Hopkins syndrome require close monitoring for epileptic apnoea. Moreover, long-term EEG and respiratory monitoring are necessary to distinguish epileptic apnoea from other respiratory disorders in patients with Pitt-Hopkins syndrome.
Assuntos
Apneia/fisiopatologia , Epilepsia Generalizada/fisiopatologia , Hiperventilação/complicações , Deficiência Intelectual/complicações , Adulto , Apneia/etiologia , Progressão da Doença , Epilepsia Generalizada/etiologia , Fácies , Feminino , Humanos , Adulto JovemRESUMO
INTRODUCTION: It is not concluded whether the association between olfactory dysfunction and REM sleep behavior disorder (RBD) were worsen cognitive function in patients with Parkinson's disease (PD). We sought to evaluate the impact of these symptoms in PD. METHODS: We examined 62 patients with PD using an olfactory test (Odor Stick Identification Test for Japanese: OSIT-J) and polysomnography (PSG). We divided the patients into 3 groups: PD with clinical RBD (n = 32), PD with subclinical RBD (n = 11), and PD with normal REM sleep (n = 19). We compared their clinical backgrounds, results of OSIT-J, autonomic functions, and cognitive functions such as Montreal cognitive assessment Japanese version (MoCA-J). Some factors associated with RBD were analyzed by multiple regression. RESULTS: There were significant differences in the results of OSIT-J, and autonomic and cognitive functions between the 3 groups. There were significant differences in the total OSIT-J score between the 3 groups (PD with clinical RBD: 3.3 ± 2.2, PD with subclinical RBD: 4.0 ± 2.6, PD with normal REM sleep: 6.7 ± 3.0, p < 0.001). Patients in the group with PD with clinical RBD had a significantly lower score than those with normal REM sleep (p < 0.001). Logistic regression analysis showed that OSIT-J score was significantly associated with RBD. The PD group with clinical RBD had more patients with mild cognitive impairment than the group with normal REM sleep. Multiple regression analysis revealed that olfactory dysfunction was correlated with MoCA-J. CONCLUSIONS: Olfactory dysfunction is associated with RBD. Especially, it is important to screen olfactory function in RBD complicated patients with PD in view of cognitive impairment.
RESUMO
Corpus callosotomy (CC) is the surgical strategy for drug-resistant epileptic seizures including epileptic spasms (ES). In this study we report a subtype of ES which is accompanied by two consecutive muscular contractions. This subtype has not been previously classified and may emerge via a complex epileptic network. We named these seizures "epileptic spasms with biphasic muscular contractions (ES-BMC)" and analyzed the association between them and CC outcomes. We enrolled 17 patients with ES who underwent CC before 20 years of age, and analyzed the records of long-term video-electroencephalogram (EEG) recordings. The outcomes of CC were ES-free (Engel's classification I) in 7 and residual ES (II to IV) in 10 patients. We statistically analyzed the associations between the presence of preoperative ES-BMC and the outcomes. Ages at CC ranged from 17 to 237 months. We analyzed 4-44 ictal EEGs for each patient. Five patients presented with ES-BMC with 6-40% of their whole ES on the presurgical video-EEG recordings, and all of them exhibited residual ES outcomes following CC. A Fisher's exact test revealed a significant positive correlation between the presence of preoperative ES-BMC and persistence of ES following CC (p = 0.044, odds ratio = 15.0, risk ratio = 2.0). The presence of ES-BMC may be useful in the presurgical prediction of CC outcomes in patients with ES.
RESUMO
Objective: We aimed to clarify the patterns of ictal power and phase lag among bilateral hemispheres on scalp electroencephalography (EEG) recorded pre-operatively during epileptic spasms (ESs) and the correlation with the outcomes following corpus callosotomy. Methods: We enrolled 17 patients who underwent corpus callosotomy for ESs before 20 years of age. After corpus callosotomy, seven patients did not experience further ESs (favorable outcome group), and the remaining 10 patients had ongoing ESs (unfavorable outcome group). We used pre-operative scalp EEG data from monopolar montages using the average reference. The relative power spectrum (PS), ictal power laterality (IPL) among the hemispheres, and phase lag, calculated by the cross-power spectrum (CPS) among symmetrical electrodes (i.e., F3 and F4), were analyzed in the EEG data of ESs from 143 pre-operative scalp video-EEG records. Analyses were conducted separately in each frequency band from the delta, theta, alpha, beta, and gamma range. We compared the means of those data in each patient between favorable and unfavorable outcome groups. Results: Among all frequency bands, no significant differences were seen in the individual mean relative PSs in the favorable and unfavorable outcome group. Although the mean IPLs in each patient tended to be high in the unfavorable outcome group, no significant differences were found. The mean CPSs in the delta, theta, and gamma frequency bands were significantly higher in the unfavorable than in the favorable outcome group. Using the Youden index, the optimal cutoff points of those mean CPS values for unfavorable outcomes were 64.00 in the delta band (sensitivity: 100%, specificity: 80%), 74.20 in the theta band (100, 80%), and 82.05 in the gamma band (100, 80%). Subanalyses indicated that those CPS differences originated from pairs of symmetrical electrodes in the bilateral frontal and temporal areas. Significance: Ictal power and laterality of the ictal power in each frequency band were not associated with the outcomes of CC; however, the phase lags seen in the delta, theta, and gamma frequency bands were larger in the unfavorable than in the favorable outcome group. The phase lags may predict outcomes of CC for ESs on pre-surgical scalp-ictal EEGs.
RESUMO
INTRODUCTION: We examined functional connectivity analyses in electroencephalograms (EEGs) of patients with attention deficit hyperactivitydisorder (ADHD) and in those of typically developing children (TDC) to uncover neurobiological abnormalities. METHODOLOGY: We enrolled 31 children with ADHD (mean age 11.1 years; 23 boys) and 17 sex-, age-, and intelligence-matched TDC to undergo 19-channel EEGs during light sleep. We estimated functional connectivity using the phase lag index (PLI) and coherence measurements that capture the synchronization of EEG signals and graphed metrics with GRETNA. We also performed continuous performance tests (CPTs) on the children and obtained answered questionnaires on ADHD and autism spectrum disorder. RESULTS: The central-to-posterior gamma PLI was lower in children with ADHD than that in TDC. The other PLI frequency bands and all coherence frequency bands were not statistically different between both groups. Individuals with high hyperactivity scores on questionnaires and low reaction times (SDs) on CPT had low motor and occipital pairs of gamma PLIs. Graph metrics showed no differences between the groups. CONCLUSIONS: The difference in averaged gamma PLI (especially with motor and occipital pairs) between groups was more suitable for diagnosis than the averaged coherence. Lower averaged gamma PLIs reflected more severe ADHD symptoms. A prospective study with more controlled conditions is warranted to determine if gamma-band PLI can be used as an auxiliary tool for ADHD diagnosis.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Ritmo Gama/fisiologia , Sono/fisiologia , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/metabolismo , Transtorno do Espectro Autista/fisiopatologia , Criança , Eletroencefalografia/métodos , Feminino , Humanos , Inteligência/fisiologia , Masculino , Estudos Prospectivos , Tempo de Reação/fisiologiaRESUMO
OBJECTIVE: To characterize the visual evoked potentials (VEP) in patients with type 3 Gaucher disease (GD) with or without progressive myoclonus epilepsy. METHODS: Three young adults with progressive myoclonus epilepsy (type 3a GD) and two children without progressive myoclonus epilepsy (type 3b GD) were enrolled. Flash visual and somatosensory evoked potentials (F-VEP and SEP, respectively) were retrospectively reviewed in all patients under enzyme replacement therapy. Pattern reversal visual evoked potentials (PR-VEP) were recorded in the type 3a group. RESULT: High-frequency components were provoked at early latencies on averaged F-VEP in all patients with type 3a and one patient with type 3b GD. Conversely, no activities were recorded in PR-VEP. The onset latency of the components began at 15.3-19.8â¯ms after flash stimulation. Four-five of the F-VEP examination the activities' duration overrode the N75 waveforms and were prolonged toward the P100 peak latency. The F-VEP amplitude did not differ between the type 3a and type 3b groups, while the SEP amplitude was higher in the type 3a than in the type 3b group. SIGNIFICANCE: High-frequency components on F-VEP using bandpass filter at 10-200â¯Hz may help assess augmented excitability in the visual cortex of type 3 GD patients.
Assuntos
Potenciais Evocados Visuais/fisiologia , Doença de Gaucher/fisiopatologia , Adolescente , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Adulto JovemRESUMO
We aimed to analyse the ictal electrographic changes on scalp electroencephalography (EEG), focusing on high-voltage slow waves (HVSs) in children with epileptic spasms (ES) and tonic spasms (TS) and then identified factors associated with corpus callosotomy (CC) outcomes. We enrolled 17 patients with ES/TS who underwent CC before 20 years of age. Post-CC Engel's classification was as follows: I in 7 patients, II in 2, III in 4, and IV in 4. Welch's t-test was used to analyse the correlation between ictal HVSs and CC outcomes based on the following three symmetrical indices: (1) negative peak delay: interhemispheric delay between negative peaks; (2) amplitude ratio: interhemispheric ratio of amplitude values for the highest positive peaks; and (3) duration ratio: interhemispheric ratio of slow wave duration. Ages at CC ranged from 17-237 months. Four to 15 ictal EEGs were analysed for each patient. The negative peak delay, amplitude ratio and duration ratio ranged from 0-530 ms, 1.00-7.40 and 1.00-2.74, respectively. The negative peak delay, amplitude ratio and duration ratio were significantly higher in the seizure residual group (p = 0.017, <0.001, <0.001, respectively). Symmetry of ictal HVSs may predict favourable outcomes following CC for ES/TS.
Assuntos
Ondas Encefálicas , Corpo Caloso , Espasmos Infantis , Adolescente , Adulto , Criança , Pré-Escolar , Corpo Caloso/fisiopatologia , Corpo Caloso/cirurgia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Espasmos Infantis/fisiopatologia , Espasmos Infantis/cirurgiaRESUMO
IMPACT STATEMENT: Acute encephalopathy (AE), mainly reported in East Asia, is classified into four categories based on clinical and neuropathological findings. Among them, AE caused by cytokine storm is known as the severest clinical entity that causes cerebral edema with poor prognosis. Because suitable and convenient model animal of AE had not been developed, the treatment of patients with AE is not established. In the present study, we established a simple and convenient protocol to mimic AE due to cytokine storm. Our model animal should be useful to elucidate the pathogenesis of AE.
Assuntos
Encefalopatia Aguda Febril/etiologia , Modelos Animais de Doenças , Febre/complicações , Lipopolissacarídeos/farmacologia , Encefalopatia Aguda Febril/patologia , Encefalopatia Aguda Febril/fisiopatologia , Animais , Animais Recém-Nascidos , Astrócitos/patologia , Barreira Hematoencefálica/patologia , Encéfalo/patologia , Encéfalo/fisiopatologia , Encéfalo/ultraestrutura , Lipopolissacarídeos/administração & dosagem , Camundongos , Camundongos Endogâmicos ICR , Microscopia ConfocalRESUMO
We report an 8-year-old girl who experienced daily episodes of visual and somesthetic distortion and was diagnosed with Alice in wonderland syndrome (AIWS). Ophthalmologic assessment revealed best-corrected visual acuity of 0.2 in both eyes, and bilateral constricted tubular or spiral visual fields. Augmented amplitude of visually evoked potentials was revealed, and treatment with lomerizine and valproate showed favorable effect on the visual/somesthetic distortion as well as the visual field and acuity. Psychogenic visual problems can co-exist with the typical sensory distortion in AIWS, similarly to the case of psychogenic pseudo-seizures in subjects with epilepsy. Otherwise, an ambiguous borderline between psychological and physical pathomechanisms in migraine may also be characteristic of the migraine-related AIWS.
RESUMO
BACKGROUND: This study aims to elucidate the effect of isolated cerebellar lesions sparing the brainstem on the auditory brainstem responses in children. METHODS: We enrolled 10 children (aged 1-16 years) with cerebellar lesions on neuroimaging but lacking clinical brainstem involvement signs and with normal brainstem volumes on magnetic resonance imaging. RESULTS: The interpeak latency of waves I and V was normal in 9 patients and was marginally prolonged in 1 patient. While amplitudes of waves I and III were normal, we noted a decreased amplitude of wave V and/or an increased I/V amplitude ratio in 6 patients; these included 5 of 8 patients with cerebellar hypoplasia/atrophy and 1 patient with acute cerebellar ataxia. CONCLUSION: Our results support the hypothesis of an inhibitory input from the cerebellar fastigial nucleus on the inferior colliculus, which might be disinhibited because of Purkinje cells dysfunction due to cerebellar cortex lesions, especially within the cerebellar vermis.
RESUMO
AIM: To determine the use of high b value diffusion-weighted imaging (DWI) in the diagnosis and assessment of acute febrile encephalopathy/encephalitis in childhood. SUBJECTS AND METHODS: We enrolled 22 children, for whom we examined DWI with b=1000s/mm2, DWI with b=3000s/mm2, and apparent diffusion coefficient (ADC) map with b=1000 during the acute phase of febrile encephalopathy/encephalitis. Clinical diagnoses included acute encephalopathy with biphasic seizures and late reduced diffusion (AESD; n=6), clinically mild encephalopathy/encephalitis with a reversible splenial lesion (MERS; n=6), and herpes simplex virus encephalitis (HSE; n=3), unclassified acute encephalopathy/acute encephalitis (n=2); acute encephalitis with refractory, repetitive partial seizures (AERRPS; n=1); other encephalopathy (n=1); infarction (n=1); head injury (n=1); or mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (n=1). The diagnostic quality of brain lesions was compared between b=1000 and b=3000 DWI images by visual inspection. In addition, we attempted a quantitative assessment using apparent diffusion coefficient (ADC) value and an index of signal intensity (SI) ratio, defined as the mean SI at the affected lesion divided by the mean SI at the pons. RESULTS: High intensity lesions were either visible only on b=3000 DWI (n=5; 2 AESD, 1 MERS, 1 HSE, and 1 unclassifiable encephalopathy) or more effectively identified on b=3000 DWI than on b=1000 DWI (n=17). The outcome of the former five subjects was favorable, without motor or intellectual sequelae. The mean SI ratio of b=3000 was significantly greater than that of b=1000 in AESD and MERS subgroups as well as in all 22 subjects. Mean ADC values were lower in the AESD and MERS than that in the HSE subgroups. CONCLUSION: We concluded that b=3000 DWI was superior to b=1000 DWI in detecting abnormal lesions in acute encephalopathy/encephalitis during childhood.
Assuntos
Encefalopatia Aguda Febril/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Encefalopatia Aguda Febril/terapia , Criança , Pré-Escolar , Imagem de Difusão por Ressonância Magnética/métodos , Feminino , Humanos , Lactente , Recém-Nascido , MasculinoRESUMO
PURPOSE: To clarify the relationship between macrocephaly and neurodevelopmental disorders, as well as identify the prevalence of PTEN mutations in autism spectrum disorders with macrocephaly in Japan. SUBJECTS AND METHODS: Diagnostic and other medical information of children with macrocephaly younger than 4years (n=93) were collected for analysis. PTEN gene mutation analysis was conducted in another set of 16 macrocephalic individuals aged 3-22years. RESULTS: Sixteen macrocephalic children were associated with neurodevelopmental disorders, including autism spectrum disorders (ASDs) (n=6), autistic traits (n=5), intellectual disability (n=5), attention deficit hyperactivity disorder (n=1), developmental coordination disorders (n=1), and language disorder (n=1). Male gender was significantly linked to these disorders, whereas a family history and degree of macrocephaly were not significantly linked to the diagnosis. A novel mutation in the PTEN gene was identified in a 16-year-old girl with autism, mental retardation, language delay, extreme macrocephaly (+4.7SD) with a prominent forehead, and digital minor anomalies. CONCLUSION: Children with macrocephaly, particularly males, are at a higher risk of neurodevelopmental disorders, rather than progressive etiologies, such as hydrocephalus and neurodegenerative disorders. The data provide a basis for routine health checks for young children in Japan, including the follow-up management and possible screening of PTEN mutations in children with ASDs and macrocephaly.