Infantile Epileptic Encephalopathy with Hypsarrhythmia (Infantile Spasms/West Syndrome) and Immunity

2008 ◽  
Vol 8 (2) ◽  
pp. 92-99
Author(s):  
Terezinha Cresci Braga Montelli ◽  
M. Peracoli
Keyword(s):  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
West Syndrome

scholarly journals Ohtahara syndrome progressing to West syndrome

2021 ◽  
Vol 8 (5) ◽  
pp. 941
Author(s):  
Tapan Patel ◽  
Shivani Patel
Keyword(s):  
Mental Retardation ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
West Syndrome ◽  
Epilepsy Syndrome ◽  
Ohtahara Syndrome ◽  
Severe Epilepsy

West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, hypsarrhythmia on electroencephalography (EEG) and mental retardation. It is sometimes due to the progression of a rare and fatal condition called early infantile epileptic encephalopathy (Ohtahara syndrome). Here we describe the case of a 3 year old male, who is a known case of West syndrome, presenting with recurrent breakthrough convulsions.

scholarly journals Compare Of the West Syndrome with Other Syndromes in the Epileptic Encephalopathy - Kosovo Experience

2017 ◽  
Vol 5 (7) ◽  
pp. 925-928 ◽  
Author(s):  
Naim Zeka ◽  
Abdurrahim Gerguri ◽  
Ramush Bejiqi ◽  
Ragip Retkoceri ◽  
Armend Vuciterna
Keyword(s):  
Cross Sectional Study ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
West Syndrome ◽  
Disease Manifestation ◽  
Cross Sectional ◽  
Unique Type ◽  
Epileptic Encephalopathies ◽  
Cohort Group ◽  
Group 2

BACKGROUND: West Syndrome (WS) represents as a specific epileptic encephalopathy characterised with a unique type of attacks, called infantile spasms, severe forms of abnormalities in electroencephalographic (EEG) records as a hypsarythmias and delays in the psychomotoric development. The characteristics of the disease, mostly affecting male gender, are infantile spasms and typical findings in EEG as a hypsarythmia. Infantile spasms are a consequence of many factors in the undeveloped brain.AIM:  We aimed: (1) to see the incidence of the illness and the spreading out because of gender in rapport   with other syndromes in the epileptic encephalopathies group; (2) to show principles of the treatment for the illness; and (3) to present the effects of the disease in the psycho-motoric development of affected children.METHODS: The study was designed as a cross-sectional study of the patients with epileptic encephalopathies, treated in Paediatric Clinic in Prishtina, from 1st of January 2013 until the 31st of December 2015. RESULTS: From the cohort group of 97 children diagnosed with epileptic encephalopathies, in 14 of them clinical and EEG signs of WS were noted. The earliest age of disease manifestation was 74 days (± 63.8 days). On the group of children with WS, 13 of them with Natrium Valpropat were treated, with the doses of 301.9 mg (± 64.1). From the cohort group, in 89 children (91.8%) psychomotoric retardation was documented, within the higher reoccurrence in the undifferentiated epileptic encephalopathies (96%) and the WS (78.6%).CONCLUSION: WS is a frequent disease of the encephalopathies with the epileptogenic framework. The resistance in anticonvulsive therapy is huge, and psychomotoric retardation follows a big percentage of children with this syndrome.

scholarly journals West syndrome - epileptic encephalopathy at early infancy

2020 ◽  
Vol 11 (4) ◽  
pp. 7492-7494
Author(s):  
Malavika Gopi ◽  
Akshaya Suresh ◽  
Anandu H ◽  
Roshni P R ◽  
Mamatha M R ◽  
...  
Keyword(s):  
Infantile Spasm ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
West Syndrome ◽  
Early Infancy ◽  
The West ◽  
Rare Type ◽  
Complete Control ◽  
New Antiepileptic Drugs ◽  
Healthy Infants

West syndrome (WS), synonymously infantile spasm or epileptic spasm, is a rare type of epileptic encephalopathy occurring at early infancy that exists with variable life expectancy. It is the most common form of epileptic encephalopathy. WS presents with spasms marked by extensor or mixed movements with distinct electroencephalogram (EEG) pattern of hypsarrhythmia, flexor and psychomotor arrest. Children with west syndrome always depict abnormal EEG, but sometimes the abnormality is seen only during sleep. The incidence of infantile spasms is found closer to 1 in 2,000 children, that typically begins between 2-12 months of age and peaks between 4-8 months of age. It is observed in otherwise healthy infants and also among infants with abnormal cognitive development. If this spasm happens in older subjects, they are preferably called "epileptic spasms" rather than infantile spasms. The goal for treatment of infantile spasms is to have complete control of spasms. Hormonal therapy with ACTH or vigabatrin is the mainstay of treatment. In spite of the development of new antiepileptic drugs (AEDs), about 35-40% of cases are drug-resistant. Children affected with the west syndrome can be cured, but a successful therapy often depends on the timely diagnosis. This case report is one evidence highlighting the treatment strategy for the west syndrome, and this could be useful for any further study regarding this topic.

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.

scholarly journals Aetiological aspects of west syndrome

2006 ◽  
Vol 134 (Suppl. 1) ◽  
pp. 45-49
Author(s):  
Borivoj Marjanovic ◽  
Milena Djuric ◽  
Dragan Zamurovic ◽  
Ruzica Kravljanac ◽  
Gordana Vlahovic ◽  
...  
Keyword(s):  
Metabolic Diseases ◽  
Neurological Impairment ◽  
Epileptic Encephalopathy ◽  
Psychomotor Retardation ◽  
West Syndrome ◽  
Clinical Feature ◽  
Perinatal Complications ◽  
Hereditary Metabolic Diseases ◽  
Number Of Patients ◽  
Aetiological Diagnosis

INTRODUCTION. West Syndrome involves epileptic encephalopathy in infants, occurring with an incidence of 5/10000 live births. Its main clinical feature are spasms that occur in clusters, which are associated with an EEG pattern called hypsarrhythmia and psychomotor retardation in most patients. West Syndrome is associated with many underlying conditions and the terms idiopathic, cryptogenic, and symptomatic are used for its aetiological subgroups. OBJECTIVE. The objective of this investigation was to determine the aetiological diagnosis of patients with West Syndrome and to compare the results with other studies. METHOD. In this 34-year longitudinal prospective one-centre study, 404 patients were studied. All patients exhibiting the diagnostic criteria for West Syndrome were investigated by clinical and neurological examination, EEG, ophthalmologic, psychological, metabolic, genetic, as well as neuroradiological methods, according to their particular indications. RESULTS. 36 (8.9%) patients had normal development, in whom infantile spasms occurred without any identifiable underlying cause, forming the idiopathic group. 51 patients (12.6%) with neurological impairment of unknown aetiology formed the cryptogenic group. The greatest number of patients (317 or 78.5%) formed the symptomatic group, in which neurological features and developmental delay preceded the onset of spasms. Disgenetic disorders and hereditary metabolic diseases were aetiological factors 44 (10.8%) patients. Prenatal and perinatal aetiological factors were revealed in one third of the patients (134 or 31%). Postnatal aetiological factors were revealed in 42 (10.2%) patients. In our study, disgenetic disorders were registered less frequently and perinatal complications more frequently than in other studies. CONCLUSION. Our results indicate the possibility of preventing West Syndrome with good quality obstetric and neonatal care, as well as the early prenatal diagnosis of brain malformations. Modern, sophisticated investigation makes the more accurate aetiological diagnosis of West Syndrome possible.

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker–Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss

2018 ◽  
Vol 49 (04) ◽  
pp. 289-295 ◽  
Author(s):  
Muna Al Dhaibani ◽  
Ayman El-Hattab ◽  
Omar Ismayl ◽  
Jehan Suleiman
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Congenital Muscular Dystrophy ◽  
Craniocervical Junction ◽  
Epileptic Encephalopathy ◽  
Brain Disease ◽  
West Syndrome ◽  
Sensorineural Hearing ◽  
Muscle Disease

AbstractMutations in B3GALNT2, encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2-related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2. The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia. The clinical and radiologic findings are compatible with a diagnosis of severe muscle-eye-brain disease and more specifically Walker–Warburg syndrome. A more distinct aspect of the clinical phenotype in this child is the presence of refractory epilepsy in the form of epileptic spasms, epileptic encephalopathy, and West syndrome, as well as sensorineural hearing loss. These findings could expand the phenotype of B3GALNT2-related dystroglycanopathy. In this report, we also provide a detailed review of previously reported cases with B3GALNT2-related dystroglycanopathy and compare them to our reported child. In addition, we study the genotype–phenotype correlation in these cases.

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