scholarly journals Early surgical intervention for structural infantile spasms in two patients under 6 months old: a case report

2020 ◽  
Vol 2 (1) ◽  
Author(s):  
Haiyan Yang ◽  
Zhiquan Yang ◽  
Jing Peng ◽  
Yehong Huang ◽  
Zhuanyi Yang ◽  
...  
Keyword(s):  
Motor Development ◽  
Surgical Intervention ◽  
Focal Cortical Dysplasia ◽  
Brain Magnetic Resonance Imaging ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Focal Seizures ◽  
Developmental Retardation ◽  
Case Presentations

Abstract Background Infantile spasms (IS) are the most common childhood epileptic encephalopathy. Focal cortical dysplasia (FCD) and gray matter heterotopias (GH) are common structural causes of IS. The recommended first-line treatment for IS patients with structural causes is surgical intervention, according to the International League Against Epilepsy (ILAE) commission guidelines. However, there is currently no consensus on appropriate timings of surgery. Case presentations Two structural IS cases are presented here: one was caused by FCD, and the other by GH. Both patients exhibited recurrent seizures at the age of 2 months, had poor responses to various antiepileptic drugs (AEDs) and displayed severe mental and motor developmental retardation. Seizure types included focal seizures and spasms. Brain magnetic resonance imaging showed abnormal gray signal or suspicious FCD lesions that coincided with the origin of the focal seizures. The patients underwent lesion resection before the age of 6 months. Follow-up observation showed that seizures of both patients were completely controlled several days after the surgery. All AEDs were gradually reduced in dosage within 1 year, and the mental and motor development almost returned to normal. Conclusion Early resection of lesions in structural IS patients has benefits of effectively controlling convulsions and improving developmental retardation. Infants at several months of age can well tolerate craniotomy, and their cognitive development is more likely to return to normal after early surgery.

Infantile Hemangioma of the Posterior Fossa in a Newborn: Early Management and Long-Term Follow-up

2017 ◽  
Vol 48 (05) ◽  
pp. 378-381 ◽  
Author(s):  
Elsa Haine ◽  
Annick Sevely ◽  
Sergio Boetto ◽  
Marie-Bernadette Delisle ◽  
Claude Cances
Keyword(s):  
Posterior Fossa ◽  
Motor Development ◽  
Brain Magnetic Resonance Imaging ◽  
Infantile Hemangioma ◽  
Capillary Hemangioma ◽  
Complete Disappearance ◽  
Early Management ◽  
Long Term Follow Up

AbstractA 21-day-old male infant was admitted with signs of intracranial hypertension. Brain magnetic resonance imaging (MRI) revealed a voluminous mass in the posterior fossa with an intense peripheral enhancement on T1 images with gadolinium. The child was treated secondarily by surgical decompression of the posterior fossa and the lesion was biopsied. The pathological findings indicated infantile hemangioma. Treatment with oral prednisolone was initiated at 3 months, given the lack of tumor involution. Six months after corticotherapy was stopped, repeated MRIs indicated a significant reduction in tumor size and then complete disappearance. Psychometric evaluation was performed at the age of 15 years, showing heterogeneous cognitive disabilities, with verbal abilities superior to nonverbal abilities and delayed motor development. Neurological examination was normal with no focal deficit. To our knowledge, this is the first published case reporting the long-term evolution of a patient with neonatal intracerebral hemangioma. We conclude that psychometric evaluations should be part of the long-term follow-up of children who have had an intracranial capillary hemangioma.

scholarly journals Evaluation of psycho-motor development in children with West syndrome

2012 ◽  
Vol 140 (5-6) ◽  
pp. 278-284 ◽  
Author(s):  
Dimitrije Nikolic ◽  
Petar Ivanovski ◽  
Dragana Bogicevic ◽  
Nikola Dimitrijevic ◽  
Ivan Milovanovic ◽  
...  
Keyword(s):  
Motor Development ◽  
Epileptic Encephalopathy ◽  
West Syndrome ◽  
Psychomotor Development ◽  
Seizure Type ◽  
Age Related ◽  
Psychological Examination ◽  
Developmental Index ◽  
Age Range

Introduction. West Syndrome (WS) is age-related epileptic encephalopathy characterised by a triad of symptoms: specific seizure type, pathognomonic electroencephalographic (EEG) pattern - hypsarrhythmia and delay and/or regression in psychomotor development (PMD). Aetiologically, it occurs in three forms: symptomatic, cryptogenic and idiopathic. Objective. Estimation of PMD in children with WS according to aetiology. Methods. The observed group consisted of 65 children. Age range was between 6 and 30 months. The patients were divided into three groups according to aetiology. All patients underwent psychological examination with Brunet-Lesine test, as well as PMD evaluation based on achieved developmental milestones for the corresponding age. Results. Statistically significant better values in the Human Developmental Index (HDI) had patients with idiopathic compared to other forms of WS, at testing after 12 months (93.0?8.1 vs. 46.8?6.1 vs. 45.6?3.8), as well as after 24 months (93.9?7.7 vs. 51.9?5.5 vs. 50.9?4.4). The best values of HDI after 24 months had patients with improvement in PMD with the average of 66.2?4.4, which was statistically significant compared to those with unchanged PMD (41.5?5.3) and with further regression in PMD (28.3?4.4). Significant correlation was obtained between PMD after 12 and 24 months (r=0.477), as well as a considerable improvement in HDI from the 12th to 24th month (49.4?4.0 vs. 53.7?3.9). Conclusion. The patients with idiopathic WS accomplished the best PMD. Improvement in PMD after 12 and 24 months of treatment was associated with improved HDI. Improvement in PMD was observed in all patients after 2 years of follow-up.

scholarly journals De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms

2018 ◽  
Vol 5 ◽  
pp. 2329048X1876773 ◽  
Author(s):  
Haolin Duan ◽  
Jing Peng ◽  
Miriam Kessi ◽  
Fei Yin
Keyword(s):  
Adrenocorticotropic Hormone ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Heterozygous Mutation ◽  
Interictal Spikes ◽  
Rare Type ◽  
Focal Seizures ◽  
First Case ◽  
New Association

Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare type of early-onset epileptic encephalopathy that is characterized by refractory migratory multifocal seizures that migrate between hemispheres. Its etiology is not well known although it is postulated to occur due to channelopathy. The authors report the first case of EIMFS due to a de novo heterozygous mutation in exon 4(c.881C>T missense mutation, p.Ala294Val, NM_172107.2) in KCNQ2 gene which later evolved into infantile spasms. However, it is the second case of EIMFS with KCNQ2 mutation. He presented with multifocal migratory partial seizures which started at the age of 8 days. Electroencephalogram examination revealed multifocal interictal spikes that migrated from one hemisphere to the other within a seizure. It was intractable with antiepileptic drugs and adrenocorticotropic hormone. He later developed spasms from the age of 8 months. Consequently, our case supports the new association between EIMFS and KCNQ2 mutations. Moreover, it enriches the disease phenotype because of transformation.

scholarly journals RHOBTB2 gene associated epilepsy and paroxysmal movement disorder: two cases report and literature review

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Xueyang Niu ◽  
Yan Sun ◽  
Ying Yang ◽  
Miaomiao Cheng ◽  
Quanzhen Tan ◽  
...  
Keyword(s):  
Movement Disorders ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Epileptic Encephalopathy ◽  
Facial Dysmorphism ◽  
Pathogenic Genes ◽  
Magnetic Resonance Imaging Mri ◽  
Case Presentations ◽  
Focal Status Epilepticus ◽  
Electroencephalogram Eeg

Abstract Background RHOBTB2 gene is associated with developmental and epileptic encephalopathy-64(DEE-64), which is characterized by epilepsy, developmental delay, microcephaly, unspecific facial dysmorphism, and paroxysmal movement disorders. Most previous studies showed that the phenotypes of RHOBTB2 gene include developmental and epileptic encephalopathy(DEE) and DEE with paroxysmal movement disorders. Only one study showed that patient with RHOBTB2 variant had paroxysmal movement disorders with no epilepsy. Case presentations Two cases with RHOBTB2 variants are presented here: Case one was diagnosed as DEE, he had recurrent afebrile focal status epilepticus and paroxysmal extrapyramidal symptoms in infancy. Interictal electroencephalogram (EEG) showed focal discharges. Brain magnetic resonance imaging (MRI) showed cortical dysplasia. Epilepsy of case one was refractory. Nevertheless, case two only showed paroxysmal movement disorders alone in adolescence. Video EEG showed focal discharges during an interictal dystonic episode and he brain MRI was normal. Conclusion The phenotypes of RHOBTB2 gene include DEE, paroxysmal movement disorders, and DEE with paroxysmal movement disorders. RHOBTB2 can be one of the pathogenic genes of paroxysmal movement disorders.

Abstract WMP102: Infantile Spasms After Early Pediatric Arterial Ischemic Stroke.

Stroke ◽  
2016 ◽  
Vol 47 (suppl_1) ◽  
Author(s):  
Aleksandra Mineyko ◽  
Morris Scantlebury ◽  
Adam Kirton
Keyword(s):  
Ischemic Stroke ◽  
Neurological Outcome ◽  
Rare Complication ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Pediatric Stroke ◽  
Genetic Syndromes ◽  
Arterial Ischemic Stroke ◽  
Poor Prognostic Factor

Introduction: Symptomatic infantile spasms (SIS) constitute a debilitating epileptic encephalopathy due to an identifiable lesion in the developing brain. Perinatal and infantile arterial ischemic stroke (AIS) result in a large spectrum of developmental outcomes. Risk factors for worse outcome are not well understood, with epilepsy diagnosis being a poor prognostic factor. As a focal injury in an otherwise healthy brain, early stroke provides unique insight into the developmental effects of epileptic encephalopathy. Hypothesis: SIS are a rare complication of AIS in infancy/early childhood. Additional neurological comorbidities are seen in stroke patients with SIS. Methods: A population-based cohort of pediatric stroke (Calgary Pediatric Stroke Program) was screened. Inclusion criteria were: (1) MRI-confirmed AIS (2) age at stroke <2 years (3) EEG with hypsarrhythmia, and (4) clinical diagnosis of infantile spasms. Pediatric Stroke Outcome Measure (PSOM) was used to determine neurological outcome at follow up. Poor outcomes included total PSOM >2 and non-motor outcomes >1. Results: One hundred and sixty-three children with AIS at <2 years of age were screened. EEGs were available for 92 (56%). Five (3%) of all patients had SIS (3 symptomatic neonatal, 1 presumed perinatal, 1 childhood AIS). Four patients (80%) were male. Strokes were unilateral and involving MCA (4) and PCA (1) territories. Median age at diagnosis was 7 months (range 2-22). Four responded to either vigabatrin and/or ACTH/steroids. One was refractory to several treatments. Compared to 28/158 (18%) in the non-SIS group, 4/5 with SIS (80%) had comorbid neurological diagnoses including genetic syndromes (2), premature brain injury (1), or hypoxic ischemic encephalopathy (1). At a median follow-up of 29 months (range 6-56), all but one patient had poor neurological outcome. One patient with good outcome had no comorbidities. One patient died of causes unrelated to stroke. Conclusions: Early AIS can be complicated by infantile spasms but usually only in the context of additional neurological comrobidity. Neurological outcomes are poor but discerning the contribution of the epileptic encephlapathy is challenging as in other IS populations.

Local Experience in using Hormonal Therapies according to the UKISS Studies in the Treatment of Infantile Spasms in Hong Kong

2018 ◽  
Vol 07 (01) ◽  
pp. 027-030 ◽  
Author(s):  
Chung Yin Mo ◽  
Chi Lap Yuen
Keyword(s):  
Hong Kong ◽  
Hormonal Therapy ◽  
Detrimental Effect ◽  
Case Series ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Local Experience ◽  
Hormonal Therapies ◽  
The Impact

AbstractInfantile spasms constitute severe epileptic encephalopathy in infancy with characteristic seizure semiology and electroencephalographic patterns. Besides the spasms, the most detrimental effect is the impact on future developmental outcomes. Different treatment methods are used, but hormonal therapy is the most well-accepted method for treating infantile spasms in nontuberous sclerosis cases. After the launch of the original United Kingdom Infantile Spasms Study (UKISS) and the two follow-up articles, the regimens of hormonal therapy became more structured and the expected treatment outcomes were studied better. We would like to share our local experience using this protocol to treat patients with infantile spasms in Hong Kong with a case series of four patients.

Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms

2020 ◽  
Author(s):  
Divya Nagabushana ◽  
Aparajita Chatterjee ◽  
Raghavendra Kenchaiah ◽  
Ajay Asranna ◽  
Gautham Arunachal ◽  
...  
Keyword(s):  
Late Onset ◽  
Neurodevelopmental Disorder ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
The Past ◽  
Resource Limited ◽  
The Central Nervous System ◽  
Motor Milestone ◽  
Behavior And Cognition ◽  
Atypical Rett Syndrome

Abstract Introduction IQSEC2-related encephalopathy is an X-linked childhood neurodevelopmental disorder with intellectual disability, epilepsy, and autism. This disorder is caused by a mutation in the IQSEC2 gene, the product of which plays an important role in the development of the central nervous system. Case Report We describe the symptomatology, clinical course, and management of a 17-month-old male child with a novel IQSEC2 mutation. He presented with an atypical Rett syndrome phenotype with developmental delay, autistic features, midline stereotypies, microcephaly, hypotonia and epilepsy with multiple seizure types including late-onset infantile spasms. Spasms were followed by worsening of behavior and cognition, and regression of acquired milestones. Treatment with steroids led to control of spasms and improved attention, behavior and recovery of lost motor milestone. In the past 10 months following steroid therapy, child lags in development, remains autistic with no further seizure recurrence. Conclusion IQSEC2-related encephalopathy may present with atypical Rett phenotype and childhood spasms. In resource-limited settings, steroids may be considered for spasm remission in IQSEC2-related epileptic encephalopathy.

Effectiveness of the Chiari Health Index for Pediatrics instrument in measuring postoperative health-related quality of life in pediatric patients with Chiari malformation type I

2020 ◽  
pp. 1-6
Author(s):  
Georgina E. Sellyn ◽  
Alan R. Tang ◽  
Shilin Zhao ◽  
Madeleine Sherburn ◽  
Rachel Pellegrino ◽  
...  
Keyword(s):  
Surgical Intervention ◽  
Type I ◽  
Health Related Quality ◽  
Health Index ◽  
Chiari Malformation Type I ◽  
Related Quality ◽  
Health Related ◽  
Over Time

OBJECTIVEThe authors’ previously published work validated the Chiari Health Index for Pediatrics (CHIP), a new instrument for measuring health-related quality of life (HRQOL) for pediatric Chiari malformation type I (CM-I) patients. In this study, the authors further evaluated the CHIP to assess HRQOL changes over time and correlate changes in HRQOL to changes in symptomatology and radiological factors in CM-I patients who undergo surgical intervention. Strong HRQOL evaluation instruments are currently lacking for pediatric CM-I patients, creating the need for a standardized HRQOL instrument for this patient population. This study serves as the first analysis of the CHIP instrument’s effectiveness in measuring short-term HRQOL changes in pediatric CM-I patients and can be a useful tool in future CM-I HRQOL studies.METHODSThe authors evaluated prospectively collected CHIP scores and clinical factors of surgical intervention in patients younger than 18 years. To be included, patients completed a baseline CHIP captured during the preoperative visit, and at least 1 follow-up CHIP administered postoperatively. CHIP has 2 domains (physical and psychosocial) comprising 4 components, the 3 physical components of pain frequency, pain severity, and nonpain symptoms, and a single psychosocial component. Each CHIP category is scored on a scale, with 0 indicating absent and 1 indicating present, with higher scores indicating better HRQOL. Wilcoxon paired tests, Spearman correlations, and linear regression models were used to evaluate and correlate HRQOL, symptomatology, and radiographic factors.RESULTSSixty-three patients made up the analysis cohort (92% Caucasian, 52% female, mean age 11.8 years, average follow-up time 15.4 months). Dural augmentation was performed in 92% of patients. Of the 63 patients, 48 reported preoperative symptoms and 42 had a preoperative syrinx. From baseline, overall CHIP scores significantly improved over time (from 0.71 to 0.78, p < 0.001). Significant improvement in CHIP scores was seen in patients presenting at baseline with neck/back pain (p = 0.015) and headaches (p < 0.001) and in patients with extremity numbness trending at p = 0.064. Patients with syringomyelia were found to have improvement in CHIP scores over time (0.75 to 0.82, p < 0.001), as well as significant improvement in all 4 components. Additionally, improved CHIP scores were found to be significantly associated with age in patients with cervical (p = 0.009) or thoracic (p = 0.011) syrinxes.CONCLUSIONSThe study data show that the CHIP is an effective instrument for measuring HRQOL over time. Additionally, the CHIP was found to be significantly correlated to changes in symptomatology, a finding indicating that this instrument is a clinically valuable tool for the management of CM-I.

scholarly journals Maternal and Neonatal Outcome after the Use of G-CSF for Cancer Treatment during Pregnancy

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1214
Author(s):  
Claudia Berends ◽  
Charlotte Maggen ◽  
Christianne A. R. Lok ◽  
Mathilde van Gerwen ◽  
Ingrid A. Boere ◽  
...  
Keyword(s):  
Motor Development ◽  
Neonatal Intensive Care ◽  
Neonatal Outcome ◽  
Intrauterine Death ◽  
Delayed Effects ◽  
Development Delay ◽  
Dose Dense ◽  
Neonatal Neutropenia ◽  
Stimulating Factor

Data on the use of Granulocyte colony-stimulating factor (G-CSF) in pregnant cancer patients are scarce. The International Network of Cancer, Infertility and Pregnancy (INCIP) reviewed data of pregnant patients treated with chemotherapy and G-CSF, and their offspring. Among 2083 registered patients, 42 pregnant patients received G-CSF for the following indications: recent chemotherapy induced febrile neutropenia (5; 12%), dose dense chemotherapy (28, 67%), poly chemotherapy (7, 17%), or prevention of neutropenia at delivery (2; 5%). Among 24 women receiving dose dense chemotherapy, three (13%) patients recovered from asymptomatic neutropenia within 5 days. One patient developed pancytopenia following polychemotherapy after which the pregnancy was complicated by chorioamnionitis and intrauterine death. Nineteen singleton livebirths (49%) were born preterm. Sixteen neonates (41%) were admitted to the Neonatal Intensive care Unit (NICU). No neonatal neutropenia occurred. Two neonates had congenital malformations. Out of 21 children in follow-up, there were four children with a motor development delay and two premature infants had a delay in cognitive development. In conclusion, the rate of maternal and neonatal complications are similar to those described in (pregnant) women treated with chemotherapy. Due to small numbers and limited follow-up, rare or delayed effects among offspring exposed to G-CSF in utero cannot be ruled out yet.

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