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BACKGROUND: The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset of growth retardation, while gains of the same chromosomal region result in a more variable degree of intellectual deficit and dysmorphism. Similarly the phenotype of individuals with terminal deletions of distal chromosome 3p (3p deletion syndrome) varies from mild to severe intellectual deficit, micro- and trigonocephaly, and a distinct facial appearance. METHODS AND RESULTS: We investigated a large Indian five-generation pedigree with ten affected family members in which chromosomal microarray and fluorescence in situ hybridization analyses disclosed a complex rearrangement involving chromosomal subregions 4p16.1 and 3p26.3 resulting in a 4p16.1 deletion and 3p26.3 microduplication in three individuals, and a 4p16.1 duplication and 3p26.3 microdeletion in seven individuals. A typical clinical presentation of WHS was observed in all three cases with 4p16.1 deletion and 3p26.3 microduplication. Individuals with a 4p16.1 duplication and 3p26.3 microdeletion demonstrated a range of clinical features including typical 3p microdeletion or 4p partial trisomy syndrome to more severe neurodevelopmental delay with distinct dysmorphic features. CONCLUSION: We present the largest pedigree with complex t(4p;3p) chromosomal rearrangements and diverse clinical outcomes including Wolf Hirschorn-, 3p deletion-, and 4p duplication syndrome amongst affected individuals.
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Transtornos Cromossômicos/genética , Cromossomos Humanos Par 3 , Cromossomos Humanos Par 4 , Transtornos Cromossômicos/etiologia , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Índia , Masculino , Análise de Sequência com Séries de Oligonucleotídeos , Linhagem , Deleção de Sequência , Trissomia , Síndrome de Wolf-Hirschhorn/genéticaRESUMO
There are a few comprehensive genetic studies on autism spectrum disorders (ASD) in India. Children of multiple births are valuable for genomics studies of complex disorders such as ASD. We report whole-exome sequencing (WES) in a triplet family in which only one among the triplet has ASD. The objective of this study was to identify potential candidate genes for ASD. Exome DNA was enriched using a twist human customized core exome kit, and paired-end sequencing was performed. Proband-specific de novo variants included 150 single nucleotide polymorphisms (SNPs) and 74 indels. Thirteen SNPs were in exonic regions, 7 of them being missense variations. Seventeen variants were previously reported in ASD. Genes harboring variants have functions in the development and maintenance of the central nervous system and are enriched in biological processes involving cell adhesion. This is the first comprehensive genetic study of a monozygotic triplet in ASD.
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Transtorno do Espectro Autista , Criança , Humanos , Transtorno do Espectro Autista/genética , Sequenciamento do Exoma , Polimorfismo de Nucleotídeo Único/genética , Trigêmeos/genéticaRESUMO
Background: Developmental language disorder (DLD) is a neurodevelopmental disorder. Considering the pivotal role of epigenetics in neurodevelopment, we examined any altered DNA methylation between DLD and control subjects. Materials & methods: We looked into genome-wide methylation differences between DLD and control groups. The findings were validated by quantitative PCR (qPCR). Results: In the DLD group, differential methylation of CpG sites was observed in the Wnt signaling regulator genes APCDD1, AMOTL1, LRP5, MARK2, TMEM64, TRABD2B, VEPH1 and WNT2B. Hypomethylation of APCDD1, LRP5 and WNT2B was confirmed by qPCR. Conclusion: This is the first report associating Wnt signaling with DLD. The findings are relevant in the light of the essential role of Wnt in myelination, and of the altered myelination in DLD.
Developmental language disorder (DLD), previously called specific language impairment, is a neurodevelopmental disorder affecting approximately 7% of school-age children. Affected children fail to develop normal speech and language skills; this is a major public health concern as it adversely impacts their communication, academic and social skills. Human brain development is complex, and the accurate temporal and spatial regulation of the expression of multiple genes is essential for proper brain development. Epigenetic factors such as DNA methylation can modulate gene expression without altering the DNA sequence and are considered key regulators of the expression of genes involved in neurodevelopment. We examined any genome-wide methylation differences between children with DLD and control subjects. The findings were validated by real-time qPCR. The DLD group showed differential methylation of CpG sites in several Wnt signaling regulator genes (APCDD1, AMOTL1, LRP5, MARK2, TMEM64, TRABD2B, VEPH1, WNT2B) compared with the control group. Among these, hypomethylation of APCDD1, LRP5 and WNT2B was confirmed by qPCR. This is the first report associating Wnt signaling with DLD. The findings are relevant in the light of the essential role of Wnt in neuronal myelination and the altered myelination in DLD revealed by magnetic resonance imaging.
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Metilação de DNA , Transtornos do Desenvolvimento da Linguagem , Humanos , Via de Sinalização Wnt , Epigênese Genética , Genes Reguladores , Angiomotinas , Peptídeos e Proteínas de Sinalização IntracelularRESUMO
BACKGROUND: We aimed to find the proportion of attention-deficit/hyperactivity disorder (ADHD) among children with childhood absence epilepsy (CAE) and to describe their electroclinical features. METHODS: Video electroencephalography (EEG) was performed on 47 children who fulfilled International League Against Epilepsy criteria for CAE. These children were also assessed for the presence of ADHD. RESULTS: Of the 47 children, 27 (57%) met criteria for the diagnosis of ADHD. Majority (74%) of them had inattentive type of ADHD. Age at onset of absences ranged from three to 12 years (mean 7.2 ± 2.47). We analyzed 219 seizures (154 electroclinical and 65 electrographic). The average seizure duration was 7.1 seconds (range 1 to 38 [S.D. 5.81]). Of the 154 clinical absences, ictal discharges were less than or equal to two seconds in nine of 154 (5.8%); greater than two to less than or equal to four seconds in 33 of 154 (21.4%), and longer than 20 seconds in 11 of 154 (7%). The longest duration of ictal discharge recorded was 38 seconds, and the shortest duration was one second. The onset of ictal discharge had a "lead in" focus in 81% (177 of 219). CONCLUSIONS: The proportion of ADHD among children with CAE is high. A "lead in" focus of the generalized ictal discharges was observed frequently, lending support to the theory that the origin of seizure discharges in CAE is indeed cortical. The shortest ictal discharge recorded was one second.
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Transtorno do Deficit de Atenção com Hiperatividade , Epilepsia Tipo Ausência , Humanos , Criança , Pré-Escolar , Epilepsia Tipo Ausência/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Prevalência , Convulsões/diagnóstico , EletroencefalografiaRESUMO
BACKGROUND: Autism spectrum disorder (ASD) is a childhood-onset complex neurodevelopmental disorder characterized by problems with communication and social interaction and restricted, repetitive, stereotyped behavior. The prevalence of ASD is one in 36 children. The genetic architecture of ASD is complex in spite of its high heritability. To identify the potential candidate genes of ASD, we carried out a comprehensive genetic study of monozygotic (MZ) twins concordant or discordant for ASD. METHODS: Five MZ twins and their parents were recruited for the study. Four of the twins were concordant, whereas one was discordant for ASD. Whole exome sequencing was conducted for the twins and their parents. The exome DNA was enriched using Twist Human Customized Core Exome Kit, and paired-end sequencing was performed on HiSeq system. RESULTS: We identified several rare and pathogenic variants (homozygous recessive, compound heterozygous, de novo) in ASD-affected individuals. CONCLUSION: We report novel variants in individuals diagnosed with ASD. Several of these genes are involved in brain-related functions and not previously reported in ASD. Intriguingly, some of the variants were observed in the genes involved in sensory perception (auditory [MYO15A, PLEC, CDH23, UBR3, GPSM2], olfactory [OR9K2], gustatory [TAS2R31], and visual [CDH23, UBR3]). This is the first comprehensive genetic study of MZ twins in an Indian population. Further validation is required to determine whether these variants are associated with ASD.
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Transtorno do Espectro Autista , Sequenciamento do Exoma , Gêmeos Monozigóticos , Humanos , Transtorno do Espectro Autista/genética , Gêmeos Monozigóticos/genética , Masculino , Feminino , Criança , Doenças em Gêmeos/genética , Pré-EscolarRESUMO
Mitochondria have a crucial role in brain development and neurogenesis, both in embryonic and adult brains. Since the brain is the highest energy consuming organ, it is highly vulnerable to mitochondrial dysfunction. This has been implicated in a range of brain disorders including, neurodevelopmental conditions, psychiatric illnesses, and neurodegenerative diseases. Genetic variations in mitochondrial DNA (mtDNA), and nuclear DNA encoding mitochondrial proteins, have been associated with several cognitive disorders. However, it is not yet clear whether mitochondrial dysfunction is a primary cause of these conditions or a secondary effect. Our review article deals with this topic, and brings out recent advances in mitochondria-oriented therapies. Mitochondrial dysfunction could be involved in the pathogenesis of a subset of disorders involving cognitive impairment. In these patients, mitochondrial dysfunction could be the cause of the condition, rather than the consequence. There are vast areas in this topic that remains to be explored and elucidated.
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Doenças Neurodegenerativas , Transtornos do Neurodesenvolvimento , Humanos , Mitocôndrias/metabolismo , DNA Mitocondrial/genética , DNA Mitocondrial/metabolismo , Doenças Neurodegenerativas/genética , Doenças Neurodegenerativas/metabolismo , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/metabolismo , CogniçãoRESUMO
BACKGROUND AND OBJECTIVES: The existing literature indicates a higher risk of mortality among children with Infantile epileptic spasms syndrome (IESS). Our aim was to find the mortality pattern and factors that affect survival among children with IESS. METHODS: Children with IESS who had age of onset between one month and 24 months were included. The primary outcome was survival. We used Kaplan-Meier estimates for survival analysis and Cox regression analyses to evaluate possible factors associated with mortality. RESULTS: During the follow-up period (120 months), 19/160 children (11.9%) expired. Three children expired in the first week after initiation of ACTH. There were six deaths (3.8%; 31.6% of deaths), within two years. Clinical findings and laboratory investigations revealed the cause of death to be severe pneumonia in ten children. Three died of severe sepsis. Four died due to metabolic crisis and two children died due to probable Sudden unexpected death in epilepsy (SUDEP). On multivariable analysis, mortality was predicted by 'presence of seizures other than spasms' and an inborn error of metabolism (IEM) as the underlying cause. None of the children in the idiopathic group died. CONCLUSION: Survival in our single center cohort with IESS was good in comparison to previous studies. Considering that pneumonia and sepsis were the most common cause of mortality that we detected, steps for prevention of sepsis might be worth considering in these children. Presence of seizures other than epileptic spasms, and an IEM should prompt the physician to let the family know that risk of mortality is high.
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Pneumonia , Sepse , Humanos , Criança , Lactente , Estudos Retrospectivos , Síndrome , Convulsões , EspasmoRESUMO
Polymicrogyria (PMG) is a relatively common complex malformation with cortical development, characterized by an exorbitant number of abnormally tiny gyri separated by shallow sulci. It is a neuronal migration disorder. Familial cases of PMG and the manifestation of PMG in patients with chromosomal aberrations and mutations indicate their important role of genetics in this disorder. The highly stereotyped and well-conserved nature of the cortical folding pattern in humans is suggestive of the genetic regulation of the process. The chromosomal abnormalities observed in PMG include deletions, duplications, chromosomal rearrangements, and aneuploidies. Two of the most common deletions in PMG are 22q11.2 deletion and 1p36 deletion. Further, mutations in several genes such as GPR56, TUBB2B, SRPX2, PAX6, EOMES, WDR62, TUBA8, KIAA1279, and COL18A1 are known to be associated with PMG. Intriguingly, these genes are responsible only for a small number of cases of PMG. The protein products of these genes are implicated in diverse molecular and cellular functions. Taken together, PMG could be the result of the disruption of several biological pathways. Different modes of Mendelian inheritance and non-Mendelian inheritance are seen in PMG. We have suggested a gene panel that can be used for the detection of malformations of cortical development.
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Background: Rett syndrome (RTT) is a rare neurological disorder that primarily affects the females. Most cases of RTT are caused by a de novo mutation in the MECP2 gene located on the X chromosome. About 1000 MECP2 mutations have been found to be associated with RTT. Objective: The present study is aimed at the mutation screening of MECP2 gene in the RTT patients belonging to the south Indian state of Kerala. Materials and Methods: In total 22 girls with a clinical suspicion of RTT were recruited for the study. Exons 2, 3, and 4 of MECP2 were amplified and sequenced. Results: MECP2 mutations were observed in 12 patients. While 7 mutations were pathogenic, 4 were benign. All of the mutations were located in exons 3 and 4 of MECP2, spanning the methyl-CpG DNA binding domain (MBD), transcription repression domain (TRD), and C-terminal domain (CTD) domains of the MECP2 protein. Four novel mutations were identified. There were no mutations in the MECP2 gene of 10 patients with a clinical suspicion of RTT. Conclusions: A recommended screening strategy for RTT is to first look for mutations in exons 3 and 4 of MECP2, followed by exons 1 and 2, testing for large deletions in MECP2, and screening for mutations in genes, such as CDKL5 and FOXG1 that are reported to cause a Rett-like phenotype.
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Proteína 2 de Ligação a Metil-CpG , Síndrome de Rett , Éxons/genética , Feminino , Humanos , Proteína 2 de Ligação a Metil-CpG/genética , Mutação/genética , Fenótipo , Síndrome de Rett/diagnóstico , Síndrome de Rett/genéticaRESUMO
Pontocerebellar hypoplasia is a heterogeneous group of disorders characterized by abnormally small cerebellum and brainstem. Pontocerebellar hypoplasia type 1 is associated with spinal anterior horn cell degeneration, microcephaly, congenital contractures, polyhydramnios, and respiratory insufficiency leading to death in infancy. Recently, however, the spectrum of this disease has been extended to include less severe variants, some of which are associated with minimal atrophy of the brainstem. In two reported cases of late-onset variant pontocerebellar hypoplasia, the siblings were alive at 9 years and 6 years, respectively, but were severely crippled and anarthric; they had features of anterior horn cell involvement and cerebellar atrophy but the brainstem was spared. The present case is that of a 12-year-old boy with early onset of anterior horn cell involvement and slowly progressive cerebellar ataxia who is still able to walk with support and speak in sentences. He was found to be devoid of the exon 7 and exon 8 deletion of the survival motor neuron gene seen in classical spinal muscular atrophy, and magnetic resonance imaging indicated marked atrophy of the cerebellar vermis and hemispheres, with minimal involvement of the brainstem. This form is apparently the mildest variant of pontocerebellar hypoplasia type 1 described to date.
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Doenças Cerebelares/patologia , Cerebelo/patologia , Ponte/patologia , Tronco Encefálico/patologia , Doenças Cerebelares/genética , Doenças Cerebelares/psicologia , Criança , Humanos , Imageamento por Ressonância Magnética , Masculino , Músculo Esquelético/patologia , Condução Nervosa , Exame Neurológico , Degenerações Espinocerebelares/patologia , Proteína 1 de Sobrevivência do Neurônio Motor/genética , Escalas de WechslerRESUMO
OBJECTIVE: To determine the sequelae of neonatal seizures in a cohort of newborns, recruited over a six month period. DESIGN: Prospective hospital based study. SETTING: The neonatal intensive care unit (NICU) of a tertiary care hospital. PARTICIPANTS: 135 babies were recruited of whom 10 died and 25 were lost to follow up. METHODS: The cases were followed up over four months. RESULTS: 68% of the babies followed up were normal; 32% had an abnormal neurological outcome. Seven (7%) developed post-neonatal epilepsy. Hypocalcemia was significantly associated with mortality (OR: 21.9; 95% CI: 1.2-391.2). No risk factors could be identified for post neonatal epilepsy. Presence of spike waves in the EEG was significantly related to abnormal neurological outcome (OR: 3.5; 95% C.I. 1.2-10.8). CONCLUSIONS: Majority of neonates with seizures have a normal outcome with no developmental delay or neurological deficit. Predominantly spike waves in the EEG is predictive of abnormal neurological outcome.
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Deficiências do Desenvolvimento/etiologia , Epilepsia/etiologia , Doenças do Sistema Nervoso/etiologia , Convulsões/complicações , Deficiências do Desenvolvimento/epidemiologia , Epilepsia/epidemiologia , Humanos , Índia/epidemiologia , Recém-Nascido , Doenças do Sistema Nervoso/epidemiologia , Prognóstico , Estudos Prospectivos , Fatores de Risco , Convulsões/diagnóstico , Convulsões/epidemiologia , Convulsões/mortalidadeRESUMO
OBJECTIVE: We studied the long-term outcome of Acute disseminated encephalomyelitis (ADEM). METHODS: We performed a retrospective cohort study among children diagnosed with ADEM (fulfilling IPMSSG criteria). Major outcome variables were motor deficit, scholastic underperformance, and behavioral abnormality. RESULTS: The inclusion criteria were fulfilled by 102 children. Three died in hospital. The follow-up ranged from one to 10 years (median 4 years). Motor deficit was seen in 17(17.2%), attention deficit in 25 (25.3%), behavioral abnormality in 13(13.1%), persistent seizures in seven (7%) invididuals and poor learning skills in 22 (22.2%). Recurrence of demyelination occurred in seven (7.1%). Two individuals had a recurrent demyelinating disorder (a chronic relapsing demyelinating disorder) that could not be classified as multiple sclerosis (MS), two had ADEM with sequential optic neuritis and three had multiphasic ADEM. At follow-up, the mean (SD) modified Rankin Scale (mRS) score was 0.556 (1.36) and Expanded Disability Status Scale score was 1.71(2.22). On multivariate analysis, the mRS score at discharge (p<0.01) and thalamic lesions on magnetic resonance imaging (MRI) (p<0.01) were associated with motor sequelae; poor learning skills with ADEM with concomitant polyneuropathy (p<0.02); and behavioral abnormality with tumefactive demyelination (p<0.02). CONCLUSIONS: Children who had ADEM may have motor or cognitive sequelae, seizures or recurrent demyelinating events on follow-up. We identified a few risk factors for these sequelae. Factors that affected outcome on discharge from hospital did not affect chances of having long-term sequelae. On follow-up, none of the children fulfilled the diagnostic criteria for MS, suggesting that the chance of conversion of ADEM to MS is less likely.
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Transtornos do Comportamento Infantil/etiologia , Escolaridade , Encefalomielite Aguda Disseminada/complicações , Encefalomielite Aguda Disseminada/psicologia , Transtornos Motores/etiologia , Análise de Variância , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Transtornos da Linguagem/etiologia , Masculino , Valor Preditivo dos Testes , Análise de RegressãoRESUMO
INTRODUCTION: Acute disseminated encephalomyelitis (ADEM), an immune mediated inflammatory disease is common in children. The profile and immediate outcome of children hospitalized with ADEM is scarce in the available literature. OBJECTIVES: We aimed to study the clinical profile of children with ADEM and to look for prognostic factors for outcome at discharge from hospital METHODS: We chose a retrospective cohort study of all children diagnosed with ADEM at our institution between January 2006 and December 2015, and they were evaluated, after excluding other diagnoses when they were summoned for a follow up visit. The major outcome variables were the modified Rankin Scale (mRS), the Kurtzke Expanded Disability Status Scale (EDSS) and the Glasgow outcome score (GOS) RESULTS: There were 102 children (with a mean follow up of 4.81 ± 2.78 years) and mean age at presentation, 6.16 ± 3.1 years. Pyramidal signs, ataxia, fever at onset, brain stem signs, seizures, myelitis and headache were the commoner clinical manifestations. Movement disorders particularly disabling tremor was seen in 12%. Only 52% had MRI lesions confined to supratentorial region, with 20% having thalamic lesions, 14% with corpus callosal lesions and 28% with brain stem hyperintensities. Three patients expired during the acute stage of the disease, the rest recovering with a mean mRS score of 1.92 ± 1.7 and EDSS score of 2.96 ± 3.05. On multivariable regression analysis, using mRS, presence of fever at admission, myelopathy with a definite sensory level and ventilator associated pneumonia were associated with a bad outcome. Using EDSS score (multivariable regression), presence of myelopathy with a definite sensory level and coma were associated with a bad outcome. Using GOS score (multivariable regression), presence of myelitis with a definite sensory level, signs of meningeal irritation and encephalomyeloradiculoneuropathy type of ADEM were associated with a bad outcome and headache with a good prognosis. The mean of the number of hours of altered sensorium and the mean duration of hospital stay in days had a significant association using the mRS, EDSS score and GOS. CONCLUSION: This study shows a profile of ADEM in South Indian children at admission and at discharge from hospital. ADEM has a good immediate outcome though death during the nadir of disease has been recorded in this study and in the literature and effort should be taken for optimal life support for these children who would have a good outcome if life support is successful. We have been able to show that, presence of myelopathy, the mean number of hours of altered sensorium and the mean duration of hospital stay were associated with a bad prognosis using three different outcome scales. Fever at admission, ventilator associated pneumonia, more profound altered sensorium at nadir of disease, signs of meningeal irritation at presentation and lower motor neuron involvement also, during the course of disease were associated with an immediate bad outcome using one of the outcome scores used in our study. Future studies should also address the question of why children with myelopathy, signs of lower motor involvement and fever at onset have a bad immediate outcome.
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Encefalomielite Aguda Disseminada/terapia , Adolescente , Criança , Pré-Escolar , Avaliação da Deficiência , Encefalomielite Aguda Disseminada/diagnóstico , Encefalomielite Aguda Disseminada/epidemiologia , Encefalomielite Aguda Disseminada/fisiopatologia , Feminino , Seguimentos , Escala de Resultado de Glasgow , Humanos , Índia , Lactente , Masculino , Admissão do Paciente , Alta do Paciente , Prognóstico , Estudos Retrospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
PURPOSE: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal electroencephalography (EEG) changes are sparse in the literature. The purpose of the study was to describe the clinical and ictal video-EEG characteristics of consecutive cases with infantile spasms and to try to find an association with the etiology. MATERIALS AND METHODS: The clinical phenomenology and EEG characteristics on video-EEG were analyzed in 16 babies with infantile spasms. RESULTS: A total of 869 spasms were reviewed. Nine (56.3%) showed focal seizures at least once during the recording and 1 (6.3%) had multifocal myoclonus in addition to the spasms. The duration of the cluster and interval between spasms was totally variable in all patients. Lateralizing phenomena were present in at least some of the spasms in all patients. Unilateral manual automatism in the form of holding the pinna was noted in three patients following the spasm. The ictal EEG activity in the majority (75%) was the slow wave. Four (25%) showed fast generalized spindle-like ictal discharges. Spikes, spike and wave activity, or electrodecremental pattern alone during the ictus was seen in none. On bivariate analysis, no factor noted on the video EEG had association with the etiology. CONCLUSION: Infantile spasms could be associated with focal and other seizures, has unique, non-uniform and variable semiology from patient to patient. The ictal EEG manifestation in the majority (75%) of our patients was the slow wave transient with 25% showing generalized fast spindle-like activity.
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BACKGROUND: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. OBJECTIVE: We aimed to follow up children with infantile spasms to study: a) the etiology, demographics, semiology, electroencephalogram (EEG), and radiological pattern; b) seizure control, psychomotor development, and EEG resolution with treatment; c) the effects of various factors on the control of spasms, resolution of EEG changes, and psychomotor development at 3-year follow-up. MATERIALS AND METHODS: Fifty newly diagnosed cases with a 1-12 month age of onset and who had hypsarrhythmia in their EEG were recruited and 43 were followed up for 3 years. RESULTS: Of the children followed up, 51% were seizure-free and 37% had a normal EEG at the 3-year follow-up. Autistic features were seen in 74% of the children. Only 22.7% among the seizure-free (11.6% of the total) children had normal vision and hearing, speech with narration, writing skills, gross and fine motor development, and no autism or hyperactivity. On multivariate analysis, two factors could predict bad seizure outcome - the occurrence of other seizures in addition to infantile spasms and no response to 28 days of adrenocorticotropic hormone (ACTH). No predictor could be identified for abnormal psychomotor development. DISCUSSION AND CONCLUSION: In our study, we could demonstrate two factors that predict seizure freedom. The cognitive outcome and seizure control in this group of children are comparable to the existing literature. However, the cognitive outcome revealed by our study and the survey of the literature are discouraging.
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We report two cases of encephalopathy following a short febrile illness. Case one was a five year old child whose magnetic resonance imaging (MRI) of the brain showed a reversible discrete lesion in the splenium of the corpus callosum (SCC) and a ten year old boy who had extensive hyperintensity of the SCC. As these children have presented while there was an outbreak of influenza in our locality and since the second child tested positive for H1N1 antigen on PCR test, we feel that as previous authors have pointed out, these cases are cases of possible influenza encephalopathy. This awareness needs to be disseminated as this specific MRI finding should prompt one to test for H1N1 antigen and offer specific antiviral agent. Case one showed signs that support the existence of a splenial syndrome.
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Corpo Caloso/patologia , Doenças Desmielinizantes/patologia , Encefalite Viral/patologia , Influenza Humana/complicações , Doença Aguda , Criança , Pré-Escolar , Corpo Caloso/virologia , Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/virologia , Encefalite Viral/diagnóstico , Humanos , Vírus da Influenza A Subtipo H1N1/isolamento & purificação , MasculinoRESUMO
Syndromic forms of cortical maldevelopment continue to be a curiosity. Hypomelanosis of Ito (HI) is the presence of whirled hypochromic skin lesions often associated with nondermatological manifestations. The polymorphism of brain abnormalities associated with HI is well known. We report three cases of Hypomelanosis of Ito, occuring in infants and associated with cerebral malformation.
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Encéfalo/anormalidades , Transtornos da Pigmentação/complicações , Anormalidades Múltiplas , Humanos , Recém-NascidoRESUMO
We report a case of a new born who presented with neonatal seizures; and who had coexistence of a Corpus Callosum Agenesis with a bilateral Open lip Schizencephaly and a Dandy Walker malformation. The investigations for an underlying etiology, however was futile.