Neuropathology of the brainstem in age-dependent epileptic encephalopathy — Especially of cases with infantile spasms —

1986 ◽  
Vol 8 (4) ◽  
pp. 443-449 ◽  
Author(s):  
Junichi Satoh ◽  
Toshio Mizutani ◽  
Yoshio Morimatsu
Keyword(s):  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Age Dependent

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.

Infantile Spasms: Current Therapy and Progress

1996 ◽  
Vol 17 (10) ◽  
pp. 356-356
Author(s):  
Steven M. Wolf ◽  
Karen Ballaban-Gil
Keyword(s):  
Inborn Error ◽  
Central Nervous System Infection ◽  
Intrauterine Infection ◽  
Infantile Spasms ◽  
Current Therapy ◽  
Genetic Abnormality ◽  
Cerebral Malformation ◽  
Age Dependent ◽  
Muscle Groups ◽  
Degenerative Disorder

Infantile spasms represent an age-dependent epileptic syndrome that usually begins between 4 and 6 months of life; onset is before the age of 12 months in about 90% of cases. The spasms are characterized by symmetric, bilateral, brief, and sudden contractions of the flexor or extensor muscle groups. The seizures may be resistant to treatment, and the syndrome frequently is associated with mental retardation. In 14% to 38% of cases, infantile spasms are "cryptogenic," without identifiable underlying cause. However, the majority of patients have so-called "symptomatic" infantile spasms, with some identifiable pre-, peri-, or postnatal factor that underlies the syndrome: hypoxemiaischemia, intrauterine infection, a cerebral malformation or degenerative disorder, tuberous sclerosis, a genetic abnormality, an inborn error of metabolism, an intracranial hemorrhage, traumatic delivery, head injury, or a central nervous system infection.

scholarly journals Utilizing Animal Models of Infantile Spasms

2018 ◽  
Vol 18 (2) ◽  
pp. 107-112 ◽  
Author(s):  
Chris G. Dulla
Keyword(s):  
Animal Models ◽  
Adverse Effects ◽  
Early Life ◽  
Improve Patient Care ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Critical Component ◽  
Improve Patient ◽  
Review Current ◽  
New Strategies

Infantile spasms are a devastating epileptic encephalopathy characterized by early life spasms and later seizures. Clinical outcomes of infantile spasms are poor and therapeutic options are limited with significant adverse effects. Therefore, new strategies to treat infantile spasms are of the utmost importance. Animals models of infantile spasms are a critical component of developing new therapies. Here, we review current chronic animal models of infantile spasms and consider future advances that may help improve patient care, as well as our scientific understanding of this debilitating disease.

scholarly journals An Unusual Case of Infantile Spasms Due to a Pathogenic Variant in the MECP2 Gene

2019 ◽  
Vol 18 (01) ◽  
pp. 039-044
Author(s):  
Behshad Charkhand ◽  
Natarie Liu ◽  
Karlene T. Barrett ◽  
Walla Al-Hertani ◽  
Morris H. Scantlebury
Keyword(s):  
Unusual Case ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Mecp2 Gene ◽  
Disease Etiology ◽  
Epileptic Spasms ◽  
Uncertain Significance ◽  
Atypical Presentations ◽  
De Novo Variant

AbstractThe infantile spasms (IS) syndrome is a developmental epileptic encephalopathy disorder characterized by epileptic spasms occurring in infancy, hypsarrhythmia on the electroencephalography (EEG) and developmental arrest or regression. The etiologies include structural, metabolic, and genetic causes. We report an unusual case of IS due to a de novo variant in the MECP2 gene. The patient also had variants of uncertain significance in the SCN9A and SCN5A genes inherited from the father and mother, respectively. This report highlights the need for broad genetic testing in MECP2-related disorders with atypical presentations to better understand the disease etiology.

Novel Mutation in ATP6V1A Gene with Infantile Spasms in an Indian Boy

2020 ◽  
Vol 51 (04) ◽  
pp. 292-294 ◽  
Author(s):  
Razia A. Kadwa
Keyword(s):  
Clinical Features ◽  
Novel Mutation ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Epileptic Encephalopathies

AbstractA 7-month-old boy with a novel mutation in ATP6V1A gene is described. The ATP6V1A gene has been recently identified to be associated with epileptic encephalopathies. Clinical features in this patient are different from cases reported so far, thus broadening the spectrum of ATP6V1A-associated epileptic encephalopathy.

Surgery for symptomatic infant-onset epileptic encephalopathy with and without infantile spasms

Neurology ◽  
2005 ◽  
Vol 64 (4) ◽  
pp. 746-750 ◽  
Author(s):  
R. Jonas ◽  
R. F. Asarnow ◽  
C. LoPresti ◽  
S. Yudovin ◽  
S. Koh ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Infantile Spasms

scholarly journals P.098 The Epilepsy Surgery Experience in Children with Infantile Spasms at the Hospital for Sick Children

2021 ◽  
Vol 48 (s3) ◽  
pp. S47-S47
Author(s):  
J Gettings ◽  
S Shafi ◽  
J Boyd ◽  
O Snead ◽  
J Rutka ◽  
...  
Keyword(s):  
Epilepsy Surgery ◽  
Previous History ◽  
Case Series ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Seizure Outcome ◽  
Retrospective Case ◽  
Developmental Regression ◽  
Irreversible Effects ◽  
Sick Children

Background: Infantile spasms (IS) is an epileptic encephalopathy, characterized by epileptic spasms, hypsarrhythmia, and developmental regression. This is a retrospective case series detailing the experience in children with IS who have undergone epilepsy surgery at The Hospital for Sick Children (HSC). Methods: Records of 223 patients from HSC were reviewed. Patients were included if they had a current or previous history of IS with a lesion detected on MRI/PET scan who underwent epilepsy surgery. Results: Nineteen patients were included. The etiology of IS was encephalomalacia in six patients (32%), malformations of cortical development in 11 patients (58%), atypical hypoglycaemic injury in one patient (0.5%), and partial hemimegalencephaly in one patient (0.5%). The median age at the onset of IS was five months. The median age at surgery was 18 months. Nine patients (47%) underwent hemispherectomy and 10 patients (53%) underwent lobectomy/lesionectomy. Fifteen patients (79%) were considered ILAE Seizure Outcome Class 1. Developmental outcome was improved in 14/19 (74%) and stable in 5/19 (26%) patients. Conclusions: Even with a generalized EEG pattern such as hypsarrhythmia, patients should be considered for focal resective surgery. Early surgical intervention shortens the duration of active epilepsy thus limiting the potentially irreversible effects of on-going seizures.

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