4 free views remaining today
electroclinical syndrome
ICD-10 Codes
Related ICD-10:
Description
Electroclinical Syndrome: A Comprehensive Overview
An electroclinical syndrome (ECS) refers to a group of clinical entities that exhibit a characteristic cluster of electro-clinical characteristics, with a specific age of onset and types of seizures [3][5]. This concept is crucial in the diagnosis and management of various epilepsy syndromes, particularly in childhood.
Key Features
- A syndrome defined as a characteristic cluster of clinical and electroencephalographic features, often supported by specific etiological findings [4][7]
- A group of clinical entities showing a cluster of electro-clinical characteristics, with a specific age of onset and types of seizures [3][5]
- Can be characterized by brief, simple focal hemifacial motor seizures with associated somato-sensory symptoms, which evolve into generalized seizures [6]
Clinical Presentation
The presentation of ECS can vary depending on the specific syndrome. However, common features include:
- Affective symptoms: fear, terror, anger, rage, depression, extreme pleasure or displeasure [8]
- Cognitive disturbances: forced thinking, dreamy states, distortion of time and space [8]
Importance in Epilepsy Diagnosis
ECS plays a significant role in the diagnosis and management of various epilepsy syndromes. Accurate identification of ECS can help clinicians to:
- Develop targeted treatment plans
- Predict seizure outcomes and recurrence rates
- Provide patients and families with informed decision-making options
In conclusion, electroclinical syndrome is a complex concept that requires a comprehensive understanding of its clinical and electroencephalographic features. By recognizing the key characteristics and clinical presentation of ECS, clinicians can provide accurate diagnoses and develop effective treatment plans for patients with epilepsy.
References
[3] Name, electroclinical syndrome. Definition, An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics...
[5] by P Parisi · 2011 · Cited by 13 — Electro-clinical syndrome is a term used to identify a group of clinical entities showing a cluster of electro-clinical characteristics, with...
[4] by H Cross · 2023 — Electroclinical syndrome diagnosis remains central to this; a syndrome defined as a characteristic cluster of clinical and electroencephalographic features,...
[6
Additional Characteristics
- A group of clinical entities showing a cluster of electro-clinical characteristics, with a specific age of onset and types of seizures
- Can be characterized by brief, simple focal hemifacial motor seizures with associated somato-sensory symptoms, which evolve into generalized seizures
- Accurate identification of ECS can help clinicians to: Develop targeted treatment plans, Predict seizure outcomes and recurrence rates, Provide patients and families with informed decision-making options
Signs and Symptoms
Electroclinical Syndromes (ECS) Signs and Symptoms
Electroclinical syndromes are a group of conditions characterized by specific patterns on an electroencephalogram (EEG) and corresponding clinical symptoms. The signs and symptoms of ECS can vary depending on the specific syndrome, but here are some common features:
- Seizures: Seizures are a hallmark of ECS. They can be focal or generalized and may manifest as convulsions, muscle contractions, or changes in consciousness.
- Autonomic Symptoms: Autonomic symptoms such as sweating, flushing, and heart rate changes are often associated with ECS (1).
- Motor Symptoms: Motor symptoms include grunting, gurgling, guttural, and choking vocalizations that can bring the seizures to attention (6).
Some specific electroclinical syndromes and their signs and symptoms include:
- Panayiotopoulos Syndrome: Characterized by seizures with predominantly autonomic symptoms and an EEG showing shifting and/or sharp waves (1).
- Rolandic Epilepsy: Focal seizures consisting of unilateral facial sensory-motor symptoms are a cardinal feature of this syndrome (8).
References
(1) Parisi, P. (2011). Panayiotopoulos Syndrome: A Review of the Literature. [Cited by 13]
(6) Parakh and Katewa When there is no reference provided for this source.
(8) KOUTROUMANIDIS, M. (Cited by 137)
Note: The references provided are based on the search results and may not be an exhaustive list of all relevant studies on electroclinical syndromes.
Additional Symptoms
- Seizures
- Autonomic Symptoms
- Motor Symptoms
- Panayiotopoulos Syndrome
- Rolandic Epilepsy
Diagnostic Tests
Based on the provided context, it appears that there are several diagnostic tests associated with electroclinical syndromes.
Imaging Studies
- Magnetic Resonance Imaging (MRI) of the brain is a crucial diagnostic tool to identify structural defects [2].
- CT and MRI scans are also mentioned as part of the imaging services offered by CIS (Charlotte Radiology and Atrium Health joint venture) [11].
Electroencephalography (EEG)
- EEG is a non-invasive technique used to measure underlying rhythms in the brain, both invasively and non-invasively [3].
- Prolonged video-EEG monitoring is a useful tool in diagnosing neonatal-onset epileptic encephalopathies [8].
Genetic Investigations
- Epilepsy gene panel testing can be used to evaluate the diagnostic yield of epilepsy patients whose seizures began within the first year after birth [7].
- Genetic investigations, including microarray to identify copy-number variants and karyotype to diagnose conditions such as ring chromosome 20 syndrome, are also mentioned [9].
Other Diagnostic Tests
- Blood ammonia and arterial blood gas metabolic profile can be obtained to look for structural defects [2].
- Ultrasound is also mentioned as part of the imaging services offered by CIS [11].
It's worth noting that Quest Diagnostics Incorporated offers a range of diagnostic services, including CLIA certified laboratories that provide HIPAA covered services [10]. However, it's unclear if these services are directly related to electroclinical syndromes.
References:
[1] P Parisi (2011) - Cited by 13 [2] P Jain (2013) - Cited by 45 [3] Various studies (no specific reference) [4] U Seneviratne (2017) - Cited by 98 [5] RA Machado (2024) - No citation [6] P Parisi (2011) - Cited by 13 [7] SS Jang (2019) - Cited by 36 [8] AL Numis (2014) - Cited by 137 [9] S Pujar (2024) - Cited by 1 [10] Quest Diagnostics Incorporated (no specific reference) [11] CIS (Charlotte Radiology and Atrium Health joint venture) [11] [12] Novant Health Imaging Museum (no specific reference) [13] Carolinas Imaging Services (no specific reference) [14] Diagnostic Medical Sonography Program (no specific reference)
Additional Diagnostic Tests
- Ultrasound
- MRI
- EEG
- CT scan
- Microarray
- Prolonged video-EEG monitoring
- Epilepsy gene panel testing
- Karyotype
- Blood ammonia test
- Arterial blood gas metabolic profile
Treatment
Treatment Options for Electroclinical Syndrome
Electroclinical syndrome, also known as Lennox-Gastaut syndrome (LGS), is a rare and severe form of epilepsy characterized by multiple seizure types and developmental delays. While there are various treatment options available, the primary goal is to control seizures and improve quality of life.
- Antiseizure medications: These remain the first-line treatment for LGS, with valproate being a commonly used medication [4]. Other effective add-on medications include lamotrigine, rufinamide, topiramate, and clobazam [4].
- Ketogenic diet: This dietary therapy has shown positive outcomes in reducing seizure frequency and improving EEG background organization [3].
- Epilepsy surgery: Surgical interventions can be considered for patients with focal seizures or those who have failed medical treatment. Surgery may involve resecting the affected area of the brain or implanting a vagus nerve stimulator.
- Steroids and ACTH: Some studies suggest that steroids and adrenocorticotropic hormone (ACTH) should be considered as a first-line treatment, especially in early-onset cases [5].
- Emerging treatments: Research is ongoing to develop new treatments for LGS. Agents such as fenfluramine and cannabidiol have shown promise but require further evaluation in randomized controlled trials [1][9].
It's essential to note that each patient with electroclinical syndrome is unique, and treatment plans should be tailored to individual needs. A multidisciplinary team of healthcare professionals, including neurologists, epileptologists, and psychologists, can provide comprehensive care and support.
References: [1] EC Wirrell (2016) - Several agents in development may show promise, specifically fenfluramine and cannabidiol, but they need further evaluation in randomized, controlled trials. [3] Antiseizure medications remain the first-line treatment, but ketogenic diet and epilepsy surgery have also shown positive outcomes and can decrease drug burden. [4] by A Verrotti (2018) - Despite many drugs available, valproate continues to have a role in the LGS treatment. Lamotrigine, rufinamide, topiramate, and clobazam are effective add-on medications. [5] by P Parisi (2011) - Some authors suggest that steroids and ACTH should be considered the treatment of choice especially in early onset of disease [116]. [9] EC Wirrell (2016) - Several agents in development may show promise, specifically fenfluramine and cannabidiol, but they need further evaluation in randomized, controlled trials.
Recommended Medications
- steroids and ACTH
- valproate
- Valproate
- rufinamide
- clobazam
- topiramate
- lamotrigine
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis of electroclinical syndromes involves identifying the underlying causes of a patient's symptoms and distinguishing them from other possible conditions.
According to search results, symptomatic cases of electroclinical syndromes can present different causes such as hypoxic-ischemic encephalopathy, vascular damage, perinatal meningoencephalitides, tuberous sclerosis, Down's syndrome, and others [1][2].
Each electro-clinical syndrome can be classified according to age at onset, cognitive and developmental antecedents and consequences, motor and behavioral manifestations, and other factors [3]. This classification can help in identifying the underlying causes of a patient's symptoms.
The EEG (electroencephalogram) provides important information about background EEG and epileptiform discharges and is required for the diagnosis of specific electroclinical syndromes [4].
In some cases, differential diagnosis may involve ruling out other conditions such as benign myoclonic epilepsy of infancy, ring chromosome 20 syndrome, mitochondrial cytopathies, organic acidurias, and others [5][6][9].
The 2017 ILAE Classification of the Epilepsies defined three diagnostic levels including seizure type, epilepsy type, and epilepsy syndrome. This classification can help in identifying the underlying causes of a patient's symptoms and making an accurate diagnosis.
To make an accurate differential diagnosis, it is essential to consider all possible causes of electroclinical syndromes and rule out other conditions through a thorough medical evaluation and diagnostic testing.
References: [1] P Parisi (2011) - Symptomatic cases present different causes such as hypoxic-ischemic encephalopathy, vascular demage, perinatal meningoencephalitides, tuberous sclerosis, Down's syndrome... [2] P Parisi (2011) - Each electro-clinical syndrome can be classified according to age at onset, cognitive and developmental antecedents and consequences, motor and behavioral manifestations... [3] P Parisi (2011) - Each electro-clinical syndrome can be classified according to age at onset, cognitive and developmental antecedents and consequences, motor and behavioral manifestations... [4] Feb 28, 2022 - The EEG provides important information about background EEG and epileptiform discharges and is required for the diagnosis of specific electroclinical syndromes. [5] Benign myoclonic epilepsy of infancy: electroclinical symptomatology and differential diagnosis from the other types of generalized epilepsy of infancy. [6] A Radhakrishnan (2012) - Ring chromosome 20 {r(20)} – manifests as a refractory epilepsy syndrome with complex partial seizures (CPS), nocturnal frontal lobe seizures and... [7] The 2017 ILAE Classification of the Epilepsies defined three diagnostic levels including seizure type, epilepsy type and epilepsy syndrome. [8] Seizures have traditionally been classified considering clinical and electroencephalographic manifestations into two main groups. [9] Jul 30, 2019 - Diagnostic Considerations · Anoxia · Benign epilepsy syndromes · Mitochondrial cytopathies · Myoclonic epilepsy · Myoclonus · Organic acidurias.
Additional Differential Diagnoses
- Hypoxic-ischemic encephalopathy
- Vascular damage
- Perinatal meningoencephalitides
- Benign myoclonic epilepsy of infancy
- Ring chromosome 20 syndrome
- Mitochondrial cytopathies
- Organic acidurias
- N syndrome
- tuberous sclerosis 1
Additional Information
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_1826
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_738
- owl#annotatedSource
- t332582
- relatedICD
- http://example.org/icd10/G25.82
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#created_by
- lschriml
- oboInOwl#creation_date
- 2012-04-11T11:42:46Z
- oboInOwl#id
- DOID:0050701
- oboInOwl#hasExactSynonym
- electro-clinical syndrome
- IAO_0000115
- An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
- core#notation
- DOID:0050701
- rdf-schema#label
- electroclinical syndrome
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.