RESUMO
PURPOSE: To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genetic overlap between benign familial neonatal seizures (BFNS), benign familial neonatal-infantile seizures (BFNIS), and benign familial infantile seizures (BFIS). METHODS: Families with at least two first-degree relatives affected by focal seizures starting within the first year of life and normal development before seizure onset were included. Families were classified as BFNS when all family members experienced neonatal seizures, BFNIS when the onset of seizures in family members was between 1 and 4 months of age or showed both neonatal and infantile seizures, and BFIS when the onset of seizures was after 4 months of age in all family members. SCN2A, KCNQ2, KCNQ3, PPRT2 point mutations were analyzed by direct sequencing of amplified genomic DNA. Genomic deletions involving KCNQ2 and KCNQ3 were analyzed by multiple-dependent probe amplification method. KEY FINDINGS: A total of 46 families including 165 affected members were collected. Eight families were classified as BFNS, 9 as BFNIS, and 29 as BFIS. Genetic analysis led to the identification of 41 mutations, 14 affecting KCNQ2, 1 affecting KCNQ3, 5 affecting SCN2A, and 21 affecting PRRT2. The detection rate of mutations in the entire cohort was 89%. In BFNS, mutations specifically involve KCNQ2. In BFNIS two genes are involved (KCNQ2, six families; SCN2A, two families). BFIS families are the most genetically heterogeneous, with all four genes involved, although about 70% of them carry a PRRT2 mutation. SIGNIFICANCE: Our data highlight the important role of KCNQ2 in the entire spectrum of disorders, although progressively decreasing as the age of onset advances. The occurrence of afebrile seizures during follow-up is associated with KCNQ2 mutations and may represent a predictive factor. In addition, we showed that KCNQ3 mutations might be also involved in families with infantile seizures. Taken together our data indicate an important role of K-channel genes beyond the typical neonatal epilepsies. The identification of a novel SCN2A mutation in a family with infantile seizures with onset between 6 and 8 months provides further confirmation that this gene is not specifically associated with BFNIS and is also involved in families with a delayed age of onset. Our data indicate that PRRT2 mutations are clustered in families with BFIS. Paroxysmal kinesigenic dyskinesia emerges as a distinctive feature of PRRT2 families, although uncommon in our series. We showed that the age of onset of seizures is significantly correlated with underlying genetics, as about 90% of the typical BFNS families are linked to KCNQ2 compared to only 3% of the BFIS families, for which PRRT2 represents the major gene.
Assuntos
Epilepsia Neonatal Benigna/diagnóstico , Epilepsia Neonatal Benigna/genética , Testes Genéticos , Canal de Potássio KCNQ2/genética , Canal de Potássio KCNQ3/genética , Proteínas de Membrana/genética , Canal de Sódio Disparado por Voltagem NAV1.2/genética , Proteínas do Tecido Nervoso/genética , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Testes Genéticos/métodos , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Família Multigênica/genética , Mutação/genética , Valor Preditivo dos Testes , Adulto JovemRESUMO
BACKGROUND: Hemiplegic migraine (HM) is a rare variety of migraine with aura, characterized by motor deficits during the aura, often beginning in childhood. The hemiplegic attacks can be severe and prolonged but the prognosis is usually good. Data on neuroimaging, including diffusion-weighted imaging (DWI) and spectroscopy, during prolonged attacks of HM are quite limited, particularly in children. CASE: An eight-year-old female had a prolonged attack of sporadic HM characterized by right-sided hemiplegia, global aphasia, fever and impairment of consciousness. MRI nine hours after hemiplegia onset was negative, while the following MRI scans (days 4 and 11) documented a progressive increase in cortical swelling in the left hemisphere with mild hyperintensity on DWI and mild reduction of apparent diffusion coefficient values. Proton MRI spectroscopy (MRS) (day 15) showed a decrease in the N-acetylaspartate/creatine ratio in the left hemisphere. (99m)Tc-ECD single-photon emission tomography (SPET) (day 27) showed marked left hemispheric hypoperfusion. The patient recovered completely after 40 days and neuroimaging follow-up (MRI and SPET) after six months was normal. The patient carried a missense mutation of the ATP1A2 gene. CONCLUSION: Multimodal neuroimaging (MRI, DWI, MRS, SPET) in a prolonged HM attack supports evidence for a primary neuronal dysfunction.
Assuntos
Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Enxaqueca com Aura , Tomografia Computadorizada de Emissão de Fóton Único , Criança , Feminino , Humanos , Enxaqueca com Aura/diagnóstico por imagem , Enxaqueca com Aura/metabolismo , Enxaqueca com Aura/patologiaRESUMO
The aim of this study was to assess the prevalence of inherited thrombophilia in 'peri-neonatal arterial ischemic stroke' (AIS), and its possible correlation with type of stroke and long-term neurological outcome. A cohort of twenty-four infants affected by AIS were analysed for risk factors, clinical and neuroradiological features, coagulation and thrombophilia profile and outcome. Two subgroups were considered, based on clinical presentation: infants symptomatic in the neonatal period, acute AIS (aAIS) and those with a delayed presentation (presumed peri-neonatal onset, pAIS). The mean follow-up on patients was 3 yr and 1 month (range 1-15 yr). Inherited thrombophilia, consisting of factor V Leiden and prothrombin G20210A mutations, protein C and/or protein S deficiencies, was detected in 28.6%. A significantly higher prevalence of inherited thrombophilia was observed in infants with pAIS compared with aAIS (Fisher's exact test, P = 0.011). Infants with pAIS had a significantly worse neurological outcome with respect to aAIS (Fisher's exact test, P = 0.014). Inherited thrombophilia was significantly higher in patients with a poor neurological outcome (Fisher's exact test P = 0.002). Although the clinical presentation (aAIS vs. pAIS) was associated with future neurological disabilities, it is the thrombophilia but not the clinical presentation, which remains the only significant prognostic factor in the logistic regression analysis. Although preliminary, these data suggest an association of unfavourable neurological outcome and inherited prothrombotic defects in neonatal AIS. The higher prevalence of inherited thrombophilia identified in pAIS and the worse neurological outcome encourage further investigations in population-based studies.
Assuntos
Isquemia Encefálica/etiologia , Infarto Cerebral/etiologia , Trombofilia/complicações , Trombofilia/genética , Testes de Coagulação Sanguínea , Isquemia Encefálica/complicações , Isquemia Encefálica/epidemiologia , Infarto Cerebral/complicações , Estudos de Coortes , Feminino , Seguimentos , Humanos , Recém-Nascido , Masculino , Doenças do Sistema Nervoso/etiologia , Prevalência , Fatores de Risco , Tromboembolia , Trombofilia/diagnósticoRESUMO
Autosomal recessive Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a hypomyelinating disorder of the central nervous system (CNS) with virtually identical phenotype to Pelizaeus-Merzbacher disease (PMD). PMLD1 is caused by mutations in GJA12 gene, PMD is due to mutations in PLP1 gene. Elevated levels of N-acetylaspartylglutamate (NAAG), the most abundant peptide neuromodulator in the human brain, have been recently reported in cerebral spinal fluid (CSF) of patients with PMD. Using capillary electrophoresis, we analyzed for the first time, the CSF from a girl with PMLD1 and detected high concentrations of NAAG. This finding confirms the hypothesis that NAAG may be involved in myelination-related processes and can be considered as a useful diagnostic marker not only for patients with the PLP1 related disorder, but also in those with Pelizaeus-Merzbacher like hypomyelinating disease due to other defined genetic causes, such as PMLD1.
Assuntos
Conexinas/genética , Dipeptídeos/líquido cefalorraquidiano , Mutação , Doença de Pelizaeus-Merzbacher/diagnóstico , Pré-Escolar , Eletroforese/métodos , Feminino , Genes Recessivos , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/líquido cefalorraquidiano , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/diagnóstico , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/genética , Humanos , Doença de Pelizaeus-Merzbacher/líquido cefalorraquidiano , Doença de Pelizaeus-Merzbacher/genéticaRESUMO
We evaluated the visual outcome of a cohort of children with neurofibromatosis type 1 (NF1) and optic pathway glioma (OPG) treated according to standardized therapeutic guidelines. The study population consisted of all consecutive patients with NF1 and OPG referred to a specialized pediatric neuro-oncology program between 1994 and 2004. Treatment was instituted only in cases of progressive disease or clinical deterioration. Treatment modalities were chemotherapy (based on vincristine/carboplatin) for children younger than 5 years and radiotherapy for all others. Ten boys and 10 girls (seven with a positive family history) entered the trial (median age at diagnosis of OPG, 29 months). At a median follow-up time of 78 months, seven patients had been treated with chemotherapy only, four with radiotherapy, and four with chemotherapy plus radiotherapy. Five patients were observed only. Currently, 18 are alive and two have died. Eight patients were treated for progressive visual loss in the face of stable disease, five for tumor volume increase without visual deterioration, and two for symptomatic tumor volume increase. At referral, six children had a visual acuity (VA) of < 30% in both eyes; eight children had 100% VA bilaterally. At referral, the visual field (VF) could be assessed in three children: One had VF loss in both eyes, one had VF loss in one eye, and one had normal VF. At last follow-up, eight children had VA < 20% in both eyes; only two children had 100% VA in both eyes. Among 11 children who had some visual function, three had VF loss in one eye and three in both eyes, and five had an intact VF. Contrast and color sensitivity were abnormal in seven and six patients, respectively. Thirteen children fell into the WHO hypovision category. In summary, among the 15 children treated, one had a definitive and two a mild improvement in VA. In conclusion, the visual outcome of this selected cohort of NF1 patients with OPG is unsatisfactory. A critical reappraisal of the therapeutic strategy adopted is needed.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Neurofibromatose 1/terapia , Glioma do Nervo Óptico/terapia , Radioterapia/efeitos adversos , Transtornos da Visão/etiologia , Carboplatina/administração & dosagem , Carboplatina/efeitos adversos , Criança , Pré-Escolar , Terapia Combinada , Sensibilidades de Contraste/efeitos dos fármacos , Sensibilidades de Contraste/efeitos da radiação , Potenciais Evocados Visuais , Feminino , Humanos , Lactente , Masculino , Neurofibromatose 1/complicações , Glioma do Nervo Óptico/complicações , Vincristina/administração & dosagem , Vincristina/efeitos adversos , Campos Visuais/efeitos dos fármacos , Campos Visuais/efeitos da radiaçãoRESUMO
BACKGROUND: Diagnostic tools of birth asphyxia provide only an uncertain prediction of neurological outcome. AIMS: To assess whether TOI and DeltaCBV, combined with a set of biochemical and neurophysiological variables, have any diagnostic and prognostic value in birth depression or asphyxia. STUDY DESIGN: Case control study at the nursery and NICU of the Padova University Children's Hospital. SUBJECTS: 22 term neonates with an Apgar score < or = 6 at 5', a 1-h umbilical artery pH value < or = 7.25 with an increased base deficit and a gestational age > or = 36 weeks; 15 healthy term infants with an Apgar score > or = 9 at 5'. OUTCOME MEASURES: Troponin I and NIRS measurements (TOI and DeltaCBV) were assessed in both groups. Blood gases, neurological evaluation, US, NIRS, EEG and SEP were evaluated in the infants with depression or asphyxia. RESULTS: Troponin I was higher in the study group than in controls (p=0.04), showing a correlation with base excess values. In the depressed/asphyxiated neonates with an abnormal outcome at 1 year, TOI rose to 80.1% vs 66.4% in controls (p=0.04) and 74.7% in infants with a normal 1-year outcome. A multiple regression model showed a significant multiple correlation coefficient, R=0.79, p<0.001, where the predictive variables significantly associated with outcome were SEP and BE. CONCLUSIONS: Troponin I is a useful short-term index of birth asphyxia or perinatal depression. An increased TOI suggests a risk of abnormal neurological outcome at 1 year. Among the cotside variables, BE and evoked potential abnormalities were the best predictors of abnormal outcome in this study.
Assuntos
Asfixia Neonatal/diagnóstico , Asfixia Neonatal/metabolismo , Fenômenos Fisiológicos do Sistema Nervoso , Oxigênio/metabolismo , Estudos de Casos e Controles , Humanos , Recém-Nascido , PrognósticoRESUMO
We report the occurrence of symmetrical thalamic calcifications (STC) in one of a pair of monozygotic twins born at term without evidence of pre- or peri-natal asphyxia. STC is known to be an extremely rare condition in infants. Judging from the few cases reported in the literature, the clinical presentation is very severe: low Apgar score, no spontaneous movements, spasticity or marked hypotonia, impaired suck and swallow, facial diplegia. The prognosis is also very poor. The etiology is still a matter of debate: genetic, infectious, toxic or hypoxic-ischemic insults have been hypothesized. In our case, the presence of the lesion in one of a pair of monozygotic twins would rule out any genetic origin, nor was there any evidence of toxic or infectious disease. The only potential risk factor for fetal damage was hypoxic-ischemic insult related to the twin pregnancy.
Assuntos
Calcinose/patologia , Hipóxia Fetal/complicações , Hipóxia-Isquemia Encefálica/etiologia , Hipóxia-Isquemia Encefálica/patologia , Tálamo/patologia , Índice de Apgar , Calcinose/diagnóstico por imagem , Calcinose/fisiopatologia , Córtex Cerebral/patologia , Córtex Cerebral/fisiopatologia , Disartria/etiologia , Disartria/patologia , Disartria/fisiopatologia , Distonia/etiologia , Distonia/patologia , Distonia/fisiopatologia , Músculos Faciais/fisiopatologia , Humanos , Hipóxia-Isquemia Encefálica/fisiopatologia , Lactente , Imageamento por Ressonância Magnética , Masculino , Espasticidade Muscular/etiologia , Espasticidade Muscular/patologia , Espasticidade Muscular/fisiopatologia , Tratos Piramidais/patologia , Tratos Piramidais/fisiopatologia , Tálamo/diagnóstico por imagem , Tálamo/fisiopatologia , Tomografia Computadorizada por Raios XRESUMO
Data from large case series of children with cerebral thrombotic events are pivotal to improve prevention, early recognition and treatment of these conditions. The Italian Registry of Pediatric Thrombosis (R. I. T. I.) was established in 2007 by a multidisciplinary team, aiming for a better understanding of neonatal and paediatric thrombotic events in Italy and providing a preliminary source of data for the future development of specific clinical trials and diagnostic-therapeutic protocols. We analysed data relative to the paediatric cerebral thrombotic events of the R. I. T. I. which occurred between January 2007 and June 2012. In the study period, 79 arterial ischaemic stroke (AIS) events (49 in males) and 91 cerebral sinovenous thrombosis (CSVT) events (65 in males) were enrolled in the R. I. T. I. Mean age at onset was 4.5 years in AIS, and 7.1 years in CSVT. Most common modes of presentation were hemiparesis, seizures and speech disturbances in AIS, and headache, seizures and lethargy in CSVT. Most common etiologies were underlying chronic diseases, vasculopathy and cardiopathy in AIS, and underlying chronic diseases and infection in CSVT. Time to diagnosis exceeded 24 hours in 46 % AIS and 59 % CSVT. Overall data from the Italian Registry are in substantial agreement with those from the literature, despite small differences. Among these, a longer time to diagnosis compared to other registries and case series poses the accent to the need of an earlier recognition of paediatric cerebrovascular events in Italy, in order to enable prompt and effective treatment strategies.
Assuntos
Isquemia Encefálica/epidemiologia , Doenças Arteriais Cerebrais/epidemiologia , Trombose dos Seios Intracranianos/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Adolescente , Idade de Início , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/terapia , Doenças Arteriais Cerebrais/diagnóstico , Doenças Arteriais Cerebrais/terapia , Criança , Pré-Escolar , Diagnóstico Tardio , Feminino , Humanos , Lactente , Itália/epidemiologia , Masculino , Valor Preditivo dos Testes , Recidiva , Sistema de Registros , Fatores de Risco , Trombose dos Seios Intracranianos/diagnóstico , Trombose dos Seios Intracranianos/terapia , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/terapia , Fatores de Tempo , Resultado do TratamentoAssuntos
Trombose dos Seios Intracranianos/complicações , Trombofilia/complicações , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , MasculinoRESUMO
Varicella zoster virus (VZV) is the only human virus known to replicate in arteries. After the acute infection, the virus persists in a noninfectious latent form in ganglia along the neuraxis, with intermittent periods of reactivation. Both primary and secondary reactivation are associated with stroke in children. These patients, regardless of the chosen treatment, have a high risk of recurrence, particularly those with worsening arterial stenosis. There are no specific therapy protocols for varicella-associated stroke in children, and the use of steroids or antiviral drugs is still controversial. We present a series of 4 children with stroke following varicella infection, with no recurrence and stable vascular stenosis at a mean follow-up of 18 months without steroid treatment. We also analyze possible correlations between anti-protein C, protein S and protein Z autoantibodies, and post-varicella arteriopathy.
Assuntos
Varicela/complicações , Varicela/tratamento farmacológico , Herpesvirus Humano 3/fisiologia , Esteroides/uso terapêutico , Acidente Vascular Cerebral/virologia , Antivirais/uso terapêutico , Autoanticorpos/imunologia , Varicela/imunologia , Varicela/virologia , Pré-Escolar , Feminino , Humanos , Masculino , Recidiva , Acidente Vascular Cerebral/tratamento farmacológico , Acidente Vascular Cerebral/imunologia , Resultado do TratamentoRESUMO
Glucose transporter type 1 deficiency syndrome is an inborn error of glucose transport across the blood-brain barrier with hypoglychorrachia. Patients usually present developmental delay, movement disorders, seizures, and acquired microcephaly, variously associated and leading to different phenotypes. We report a 3-year-old girl affected by glucose transporter type 1 deficiency syndrome with carbohydrate responsiveness. Her history was characterized by worsening of ataxia with an increasing interval to the last food intake, occurrence of seizures in the morning before breakfast, slowing of electroencephalogram (EEG) background activity with the appearance of epileptiform discharges during preprandial recordings, and improvement of the electroclinical picture after food intake. By adding a new case to the pertinent literature, we stress the role of pre- and postprandial EEG recordings for the identification of individuals potentially affected by glucose transporter type 1 deficiency syndrome. We also provide a possible physiopathological interpretation of EEG changes related to food intake.
Assuntos
Encéfalo/fisiopatologia , Transportador de Glucose Tipo 1/deficiência , Período Pós-Prandial/fisiologia , Convulsões/fisiopatologia , Erros Inatos do Metabolismo dos Carboidratos/fisiopatologia , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Proteínas de Transporte de Monossacarídeos/deficiênciaRESUMO
Joubert syndrome is a disorder characterized by ataxia, developmental delay, oculomotor anomalies, and breathing irregularities, with cerebellar vermian and midbrain dysgenesis. The molar tooth sign, reflecting the midbrain dysgenesis of Joubert syndrome, is the neuroradiological hallmark and is an essential sign in the identification of this condition. Variable vermian agenesis, an expanded fourth ventricle, and a large posterior cranial fossa with a normal brainstem are typical of Dandy-Walker malformation. The authors report a case in which a Dandy-Walker malformation coexisted with Joubert syndrome, but initially prevented the ''molar tooth sign'' from being recognized because of an important cystic dilatation of the fourth ventricle. In this article, they discuss the importance of the re-examination of brain magnetic resonance features after decompression of the posterior cranial fossa in a patient with Dandy-Walker malformation and additional clinical neurological or systemic abnormalities typical of Joubert syndrome, to not miss the correct diagnosis.
Assuntos
Síndrome de Dandy-Walker/complicações , Anormalidades Múltiplas , Doenças Cerebelares/complicações , Doenças Cerebelares/diagnóstico , Cerebelo/anormalidades , Anormalidades do Olho/complicações , Anormalidades do Olho/diagnóstico , Humanos , Doenças Renais Císticas/complicações , Doenças Renais Císticas/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Retina/anormalidadesRESUMO
Several studies on opiates demonstrated that selected brain areas as cerebellum and limbic system have the greatest density of opioid receptors. Recently, few cases of severe cerebellitis following methadone poisoning have been reported in children. We present the case of a 30-month-old girl who developed a delayed encephalopathy after methadone intoxication. She was admitted to our emergency department in coma, and after naloxone infusion, she completely recovered. Five days after intoxication, she developed psychomotor agitation, slurred speech, abnormal movements, and ataxia despite a negative neuroimaging finding. A repeat magnetic resonance imaging (MRI) performed 19 days after the intoxication for persistent symptoms showed signal abnormalities in the temporomesial regions, basal ganglia, and substantia nigra. To our knowledge, this is the first report of these delayed MRI findings associated with synthetic opioid intoxication.
Assuntos
Encéfalo/patologia , Encefalite/patologia , Metadona/intoxicação , Síndromes Neurotóxicas/patologia , Encéfalo/efeitos dos fármacos , Pré-Escolar , Encefalite/induzido quimicamente , Feminino , Humanos , Imageamento por Ressonância Magnética , Exame Neurológico , RecidivaRESUMO
Fibrocartilaginous embolization is a rare cause of ischemic myelopathy caused by embolization of intersomatic disk nucleus pulposus into spinal vasculature during Valsalva-like maneuvers. Diagnostic criteria are based on patient's clinical history, magnetic resonance evidence of T2-hyperintense spinal cord lesion, and exclusion of other causes of ischemic myelopathy. These criteria do not take into account the development of magnetic resonance techniques able to enhance signal abnormalities within the neighboring intersomatic disc or vertebral body and to early characterize central nervous system lesions according to the presence of cytotoxic edema. We present 2 pediatric cases of progressive paraplegia attributed to fibrocartilaginous embolization in which short-tau inversion recovery and diffusion-weighted imaging sequences played a pivotal role showing the ischemic nature of spinal cord lesions. Due to its specificity, diffusion-weighted imaging should be included in the magnetic resonance criteria of fibrocartilaginous embolization and in standard magnetic resonance analysis when dealing with acute transverse myelopathy.
Assuntos
Imagem de Difusão por Ressonância Magnética/métodos , Embolia/patologia , Fibrocartilagem/patologia , Disco Intervertebral/patologia , Isquemia do Cordão Espinal/patologia , Medula Espinal/patologia , Adolescente , Criança , Embolia/etiologia , Embolia/fisiopatologia , Feminino , Fibrocartilagem/fisiopatologia , Humanos , Disco Intervertebral/fisiopatologia , Masculino , Vias Neurais/irrigação sanguínea , Vias Neurais/patologia , Vias Neurais/fisiopatologia , Valor Preditivo dos Testes , Prognóstico , Medula Espinal/irrigação sanguínea , Medula Espinal/fisiopatologia , Isquemia do Cordão Espinal/etiologia , Isquemia do Cordão Espinal/fisiopatologiaRESUMO
Hemolytic uremic syndrome is a multisystem disease that can affect central nervous system in up to 50% of cases. Central nervous system involvement can be clinically severe and its pathogenesis is not yet fully understood. Various magnetic resonance imaging findings, on conventional sequences, documenting the involvement of deep gray-matter structures, have been described. Diffusion-weighted imaging features of brain lesions have been reported only in 2 cases, but the potential role of this technique has not been considered yet. We describe a 19-month-old child affected by hemolytic uremic syndrome with basal ganglia lesions documented by diffusion-weighted imaging, with a 42-day neuroradiological follow-up and a 6-month clinical follow-up. In our case, diffusion-weighted imaging was more sensible in detecting the affected brain areas compared to T1, suggesting that reduced apparent diffusion coefficient values in the acute phase could reliably identify irreversible brain lesions in hemolytic uremic syndrome patients.
Assuntos
Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/patologia , Imagem de Difusão por Ressonância Magnética/métodos , Síndrome Hemolítico-Urêmica/patologia , Doenças dos Gânglios da Base/etiologia , Diagnóstico Diferencial , Feminino , Síndrome Hemolítico-Urêmica/complicações , Humanos , LactenteRESUMO
Spinal cord injury without radiographic abnormality (SCIWORA) has a reported rate of incidence varying from 19% to 34% of all spinal cord injuries in children. This acronym refers to the presence of neurological lesion, despite normal plain radiographs, but where magnetic resonance imaging (MRI) shows significant pathology. The clinical evidence of the damage could be delayed in 6-54% of cases, usually within 48 h after the trauma. We report two patients affected by SCIWORA in the pediatric population. The first patient was a child of 22 months who had fallen when attempting to get out of bed. The second patient was an 11-month-old child admitted to the Emergency Service department after a car accident. Spinal cord injury has to be suspected in the presence of neurological signs, despite normal plain radiography. MRI is the appropriate diagnostic examination to identify the presence of SCIWORA.
Assuntos
Traumatismos da Medula Espinal/diagnóstico , Acidentes por Quedas , Acidentes de Trânsito , Vértebras Cervicais/lesões , Vértebras Cervicais/patologia , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Vértebras Torácicas/lesões , Vértebras Torácicas/patologiaRESUMO
Metachromatic leukodystrophy (MLD) is an autosomal recessive disease with well-documented intracranial findings on neuroimaging both by computed tomography (CT) and MRI. We describe the first case of late infantile MLD with spinal involvement revealed by MRI as marked contrast enhancement of nerve roots at the level of the cauda equina.
Assuntos
Cauda Equina/patologia , Leucodistrofia Metacromática/patologia , Medula Espinal/patologia , Meios de Contraste/administração & dosagem , Feminino , Humanos , Lactente , Imageamento por Ressonância MagnéticaRESUMO
We report the first case of primary amebic meningoencephalitis in Italy, in a 9-year-old boy. Clinical course was fulminant, and diagnosis was made by identifying amebas in stained brain sections and by indirect immunofluorescence analysis. Naegleria fowleri was characterized as genotype I on the basis of polymerase chain reaction test results.