scholarly journals Management of Infantile Spasms: An Updated Review

2020 ◽  
Vol 06 (01) ◽  
pp. 04-14
Author(s):  
Mary Iype ◽  
Kiren George Koshy
Keyword(s):  
Early Recognition ◽  
Intractable Epilepsy ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Response To Treatment ◽  
High Dose ◽  
Ohtahara Syndrome ◽  
Oral Steroids ◽  
Antiepileptic Medications ◽  
Infancy And Early Childhood

AbstractInfantile spasms remain the most challenging of the epileptic encephalopathies of childhood. Infantile spasms are classified as an epileptic encephalopathy, as the adverse cognitive and behavioral burden of the condition is out of proportion to the burden one would expect from the underlying etiology or the accompanying magnetic resonance imaging. The ictal and interictal electroencephalographic (EEG) activity is presumed to contribute to the progressive cerebral dysfunction. In many of these children, the underlying etiology also contributes to the severe mental subnormality and autistic behavior. Though it is the syndromic approach that guides the pediatric epileptologist, it is best to keep in mind that one syndrome may evolve into another in infancy and early childhood. A baby with Ohtahara syndrome may, after 2 to 7 months, begin to have spasms. Lennox-Gastaut syndrome with its typical seizure types and EEG may evolve in a child with infantile spasms.The unique modalities used in the treatment of infantile spasms make early recognition important. It is, however, also of paramount importance to make an etiological diagnosis as the underlying etiology may be eminently treatable. The treating physician cannot abandon them as wholly “intractable” epilepsy. The excellent response to treatment in the few who just cannot be defined or accurately predicted drives the physician to exercise his brain. Use of the two well-accepted modalities of treatment; vigabatrin and adrenocorticotrophic hormone singly or in combination, oral steroids in high dose, ketogenic diet, the conventional antiepileptic medications, and strategies to target the basic cause have been tried out by various clinicians. Here, we have made an attempt to collate evidence and describe the progress in the management of infantile spasms.

Outcomes of High-Dose Steroid Therapy for Infantile Spasms in Children With Trisomy 21

2019 ◽  
Vol 34 (11) ◽  
pp. 646-652 ◽  
Author(s):  
Dallas Armstrong ◽  
Rana R. Said
Keyword(s):  
Trisomy 21 ◽  
Current Knowledge ◽  
Significant Proportion ◽  
Retrospective Chart Review ◽  
Infantile Spasms ◽  
Response To Treatment ◽  
Pediatric Epilepsy ◽  
High Dose ◽  
First Line ◽  
Clinical Onset

Objective: We performed a retrospective chart review of patients with trisomy 21 and infantile spasms in our university-based pediatric epilepsy center between 2002 and 2016 in order to describe the clinical characteristics of children with these diagnoses as well as to evaluate their response to first-line treatments. Methods: Patients with infantile spasms were identified via the neurophysiology database. Charts were reviewed with attention to infantile spasms diagnosis, presence of trisomy 21, age of reported clinical onset, treatment lag, treatments used, response to treatment, imaging findings, electroencephalography (EEG) data, and developmental outcomes. Results: Of the 310 patients with infantile spasms, 24 also had trisomy 21. Three patients did not meet inclusion criteria. Ten of the 21 patients received nonstandard therapies first line; 2 of the 10 (20%) achieved spasm control, and 4 of the 8 who failed therapy (50%) progressed to Lennox-Gastaut syndrome. Eleven of the 21 patients received standard therapies as first-line treatments (10 with prednisolone according to the protocol in the United Kingdom Infantile Spasms Study [UKISS] and 1 with adrenocorticotrophic hormone [ACTH]). Nine of the 10 patients (90%) who received prednisolone achieved spasm resolution, 6 (60%) of these without relapse. The final patient (10%) failed prednisolone as well as ACTH. One patient received ACTH first line with success. Conclusion: This is the only series to follow children with trisomy 21 and infantile spasms in which a significant proportion received UKISS-protocol prednisolone. It adds to current knowledge about safety, tolerability, and effectiveness of prednisolone in this group.

scholarly journals P119 Characteristics and treatment of fibrosclerosing orbital inflammatory disease

Rheumatology ◽  
2020 ◽  
Vol 59 (Supplement_2) ◽  
Author(s):  
Vasiliki Thanopoulou ◽  
Alexander Weller ◽  
Ezra Nigar ◽  
Joseph Marais ◽  
Vickie Lee ◽  
...  
Keyword(s):  
Inflammatory Disease ◽  
Bone Erosion ◽  
Inflammatory Diseases ◽  
Early Recognition ◽  
Intensive Therapy ◽  
Inflammatory Cells ◽  
Normal Serum ◽  
Response To Treatment ◽  
High Dose ◽  
Serum Igg4

Abstract Background Orbital inflammatory disease (OID) encompasses a group of disorders which affect the orbit and neighbouring areas. Several multi-system inflammatory diseases including small vessel vascuilitides, Sarcoidosis and IgG4 disease can manifest as an OID. Treatment generally includes steroid therapy in combination with conventional immunosuppressant’s, cyclophosphamide or rituximab. Herewith we describe a series of non-vasculitic, fibroinflammatory OID. Methods We retrospectively reviewed records of 5 patients referred to rheumatology with inflammatory OID after malignancy, infection and Graves’ ophthalmopathy were excluded. General demographics, histology, MRI and treatment responses were reviewed. Results Patients were generally female (4:1) and of a young age (range 33-54). Proptosis and diplopia were the key symptoms with occasional sino-nasal symptoms. Inflammatory markers on presentation were marginally raised (CRP mean 11, ESR mean 37). All patients were negative for autoantibodies and had normal serum IgG4 levels. MRI showed fibrotic mass lesions in all cases with bone erosion/ destruction in 2 cases. Biopsy showed fibrosclerosis mixed with chronic inflammatory cells. 3 cases stained positive for IgG4 cells but only one of them achieved diagnostic levels (case 3). All patients were initially treated with high dose steroids (prednisolone 1mg/kg or IV methylprednisolone (MP)) with either methotrexate or cyclophosphamide (1g EUVAS protocol). Highly resistant cases were treated with rituximab (total 2g). There was a good clinical response to treatment in all cases but in 4 patients residual fibrosis persisted on follow-up MRI (Table 1). Conclusion We describe a series of fibrosclerosing OID with histology like IgG4 disease, but with normal serum IgG4 levels and negative tissue immunofluorescence (IF) in some cases. Most cases will respond well to steroids and second-line therapy, but residual fibrosis may persist with mild clinical sequelae. Early recognition and intensive therapy may minimise fibrotic complications. Disclosures V. Thanopoulou None. A. Weller None. E. Nigar None. J. Marais None. V. Lee None. B. Marjanovic None. A. Ahmed None. I. Balasundaram None. S. Hamdulay None.

scholarly journals The Epileptic Encephalopathies of Infancy and Childhood

2005 ◽  
Vol 32 (4) ◽  
pp. 409-418 ◽  
Author(s):  
Elaine Wirrell ◽  
Kevin Farrell ◽  
Sharon Whiting
Keyword(s):  
Cognitive Function ◽  
Behavior Disorders ◽  
Intractable Epilepsy ◽  
Epileptic Encephalopathy ◽  
Convulsive Status Epilepticus ◽  
Epileptic Encephalopathies ◽  
Co Morbidity ◽  
Infancy And Childhood ◽  
Infancy And Early Childhood ◽  
Review Current

ABSTRACT:The epileptic encephalopathies comprise a group of devastating seizure syndromes which begin in infancy and early childhood and usually result in intractable epilepsy. While some syndromes are relatively easily diagnosed early in their course, others take time to evolve, hampering an early, confident diagnosis. Epileptic encephalopathies are associated with slowing of cognitive function and evolution of severe behavioral disorders, which are often more distressing to families than the epilepsy. While an underlying etiology may explain some of this co-morbidity, many children have no identifiable etiology found for their seizures. In these “idiopathic” cases, recurrent subtle seizures, frequent epileptiform discharge and non-convulsive status epilepticus probably all play a role in deterioration of cognitive function and evolution of behavior disorders. This paper will review the most common epileptic encephalopathy syndromes, discuss the cognitive and behavioral co-morbidities and review current therapeutic options.

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 Current Pharmacologic Strategies for Treatment of Intractable Epilepsy in Children

2021 ◽  
Vol 25 (Suppl 1) ◽  
pp. S8-18 ◽  
Author(s):  
Ja Un Moon ◽  
Kyung-Ok Cho
Keyword(s):  
Ion Channels ◽  
Molecular Mechanisms ◽  
Intractable Epilepsy ◽  
Epileptic Encephalopathy ◽  
New Drugs ◽  
Dravet Syndrome ◽  
Ohtahara Syndrome ◽  
Voltage Gated Ion Channels ◽  
Related Proteins ◽  
Gated Ion Channels

Epileptic encephalopathy (EE) is a devastating pediatric disease that features medically resistant seizures, which can contribute to global developmental delays. Despite technological advancements in genetics, the neurobiological mechanisms of EEs are not fully understood, leaving few therapeutic options for affected patients. In this review, we introduce the most common EEs in pediatrics (i.e., Ohtahara syndrome, Dravet syndrome, and Lennox-Gastaut syndrome) and their molecular mechanisms that cause excitation/inhibition imbalances. We then discuss some of the essential molecules that are frequently dysregulated in EEs. Specifically, we explore voltage-gated ion channels, synaptic transmission-related proteins, and ligand-gated ion channels in association with the pathophysiology of Ohtahara syndrome, Dravet syndrome, and Lennox-Gastaut syndrome. Finally, we review currently available antiepileptic drugs used to treat seizures in patients with EEs. Since these patients often fail to achieve seizure relief even with the combination therapy, further extensive research efforts to explore the involved molecular mechanisms will be required to develop new drugs for patients with intractable epilepsy.

Epileptic Spasms at Muhimbili National Hospital Tanzania, A Retrospective Study.

2020 ◽  
Author(s):  
Joseph Mwalongo ◽  
Edward Kija
Keyword(s):  
Age Of Onset ◽  
Early Recognition ◽  
Epileptic Encephalopathy ◽  
High Dose ◽  
Muhimbili National Hospital ◽  
National Hospital ◽  
Cross Sectional ◽  
Female Ratio ◽  
Epileptiform Discharges ◽  
Epileptic Spasms

Abstract Background; Epileptic spasms (ES) is an epileptic encephalopathy occurring during infancy and early childhood. Early recognition and management is important to prevent severe neurological impairment. This study aimed at describing the clinical presentation, management and outcome of patients with Epileptic Spasms attending Muhimbili National Hospital (MNH), in Dar Es Salaam, Tanzania. Methods; A retrospective cross sectional study of all patients diagnosed with epileptic spasms was conducted at MNH from July 2016 to October 2018. Results; A total of 40 patients diagnosed with epileptic spasms were retrieved with male to female ratio of 3:2. In this study, 17 (42.5%) patients had a documented history of perinatal insult. The median age of onset of spasms was 5 months (IQR 1–12 months). In 14 (80%) out of 17 patients whom electroencephalography ( EEG) findings were retrieved had abnormal EEG findings showing either generalized epileptiform discharges 7(41%), generalized slowing 5(30%), hypsarrthymia 1(6%), or abnormal focal epileptiform discharges 2 (12%). Twenty-nine (73%) received prednisolone, with a median time of spasms subsiding of 1 month with a range of 10 days to 3 months in about 90% of them. Conclusion; The median age of onset of epileptic spasms at MNH is 5 months with the most common cause being perinatal insult in more than 40% of the patients. High dose prednisolone showed a good response in patients with epileptic spasms at MNH.

scholarly journals Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy

2021 ◽  
Vol 12 ◽  
Author(s):  
Pan Gong ◽  
Xianru Jiao ◽  
Dan Yu ◽  
Zhixian Yang
Keyword(s):  
De Novo ◽  
Gene Mutations ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Loss Of Function ◽  
Gain Of Function ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
Ohtahara Syndrome ◽  
Whole Exome

Objective:KCNT2 gene mutations had been described to cause developmental and epileptic encephalopathies (DEEs). In this study, we presented the detailed clinical features and genetic analysis of two unrelated patients carrying two de novo variants in KCNT2 and reviewed eight different cases available in publications.Methods: Likely pathogenic variants were identified by whole exome sequencing; clinical data of the patients were retrospectively collected and analyzed.Results: Our two unrelated patients were diagnosed with Ohtahara syndrome followed by infantile spasms (IS) and possibly the epilepsy of infancy with migrating focal seizures (EIMFS), respectively. They both manifested dysmorphic features with hirsute arms, thick hair, prominent eyebrows, long and thick eyelashes, a broad nasal tip, and short and smooth philtrum. In the eight patients reported previously, two was diagnosed with IS carrying a ‘change-of-function' mutation and a gain-of-function mutation, respectively, two with EIMFS-like carrying a gain-of-function mutation and a loss-of-function mutation, respectively, one with EIMFS carrying a loss-of-function mutation, three with DEE without functional analysis. Among them, two patients with gain-of-function mutations both exhibited dysmorphic features and presented epilepsy phenotype, which was similar to our patients.Conclusion: Overall, the most common phenotypes associated with KCNT2 mutation were IS and EIMFS. Epilepsy phenotype associated with gain- and loss-of-function mutations could overlap. Additional KCNT2 cases will help to make genotype-phenotype correlations clearer.

Biological Bases of Symptomatic Generalized Epilepsies in Children

2017 ◽  
Author(s):  
Dragos A. Nita ◽  
Miguel A. Cortez ◽  
Jose Luis Perez Velazquez ◽  
O. Carter Snead
Keyword(s):  
Mental Retardation ◽  
Intractable Epilepsy ◽  
Epileptic Encephalopathy ◽  
Global Developmental Delay ◽  
Epilepsy Syndrome ◽  
Mortality And Morbidity ◽  
Age Related ◽  
Ohtahara Syndrome ◽  
Brain Involvement ◽  
Myoclonic Encephalopathy

Symptomatic generalized epilepsies represent a group of challenging epilepsy syndromes, most often seen in children, which share the hallmark of a triad encompassing multiple seizure types, electroencephalographical (EEG) evidence of diffuse brain involvement, and dysfunction in the intellectual domain (global developmental delay or mental retardation). SGEs include the early myoclonic encephalopathy, early infantile epileptic encephalopathy (Ohtahara syndrome), West syndrome, epilepsy with myoclonic-astatic seizures, epilepsy with myoclonic absence, Lennox-Gastaut syndrome, and the progressive myoclonic epilepsies. SGEs may arise from various genetic, developmental, or acquired brain pathologies and also can be associated with other cerebral or systemic defects and thus being part of a broader epilepsy syndrome phenotype. SGEs are associated with significant mortality and morbidity and most patients with SGE grow up to have intractable epilepsy, mental retardation, and depend on parents and institutions for the activities of the daily living. The mechanisms of SGE are numerous and heterogeneous and the EEG findings usually reflect the age-related changes as the brain matures.

Shuddering Attacks in an Infant

2020 ◽  
Author(s):  
Roshan Koul
Keyword(s):  
Early Childhood ◽  
Infantile Spasms ◽  
Actual Event ◽  
The Common ◽  
Antiepileptic Medications ◽  
Infancy And Early Childhood

AbstractShuddering attacks are rare benign nonepileptic paroxysmal events (NEPEs) seen in infancy and early childhood. These movements may look like myoclonus or infantile spasms. Recognition of these movements is important to avoid elaborate workup and antiepileptic medications. Shuddering attacks disappear by the age of 2 years in most of these children. NEPEs are almost as common as epilepsy. It is easy to differentiate the common NEPEs from epilepsy. However, it is difficult to diagnose the rare benign NEPEs not seen before. Shuddering attacks are one of these rare NEPEs. It is commonly diagnosed as infantile spasms/myoclonus unless one observes the actual event or video very carefully.

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