Pediatric Seizures: Diagnostic History, and Clinical Presentation
This is a comprehensive list of pediatric seizures, highlighting specific diagnostic history and clinical findings for each type. It serves as a valuable resource for both students and medical professionals by providing a detailed overview of seizure patterns, aiding in accurate diagnosis and effective management. Each entry is carefully structured to emphasize key clinical features and the underlying history associated with different seizure types in children.
Designed for easy reference, this guide helps healthcare providers identify and differentiate between various pediatric seizure presentations. With its focus on practical and diagnostic aspects, it is an essential tool for enhancing the understanding of seizure disorders in children and improving patient outcomes in both academic and clinical settings.
1. Febrile Seizures
Diagnostic History: Typically occurs in children aged 6 months to 5 years during a febrile illness. Family history may be positive for febrile seizures.
Clinical Presentation: Generalized tonic-clonic seizure lasting less than 15 minutes, associated with fever >38°C (100.4°F). Child may be irritable or sleepy post-ictal.
Diagnostic Findings: Normal neurological examination between episodes. EEG typically normal. Blood tests may show evidence of infection.
2. Absence Seizures (Petit Mal)
Diagnostic History: Onset typically between 4-10 years of age. Reports of brief episodes of "staring" or "daydreaming".
Clinical Presentation: Sudden onset of blank staring, sometimes with eye blinking or mild automatisms. Lasts 5-20 seconds and occurs multiple times per day.
Diagnostic Findings: EEG shows characteristic 3 Hz spike-and-wave discharges. Hyperventilation often provokes seizures during EEG.
3. Juvenile Myoclonic Epilepsy
Diagnostic History: Onset typically in adolescence. Family history may be positive for epilepsy.
Clinical Presentation: Sudden, brief muscle jerks, typically in the morning or upon awakening. May progress to generalized tonic-clonic seizures.
Diagnostic Findings: EEG shows generalized polyspike-wave discharges. MRI typically normal.
4. Infantile Spasms (West Syndrome)
Diagnostic History: Onset typically between 3-12 months of age. Often associated with underlying brain abnormalities or genetic conditions.
Clinical Presentation: Clusters of brief, sudden flexion or extension of head, trunk, and limbs. Often associated with developmental regression.
Diagnostic Findings: EEG shows hypsarrhythmia pattern. MRI may reveal underlying structural abnormalities.
5. Lennox-Gastaut Syndrome
Diagnostic History: Onset typically between 2-6 years of age. Often evolves from infantile spasms or other early-life epilepsies.
Clinical Presentation: Multiple seizure types including tonic, atonic, and atypical absence seizures. Intellectual disability and behavioral problems are common.
Diagnostic Findings: EEG shows slow spike-and-wave complexes and paroxysmal fast activity during sleep. MRI may show various structural abnormalities.
6. Benign Rolandic Epilepsy
Diagnostic History: Onset typically between 3-13 years of age. Family history may be positive for this condition.
Clinical Presentation: Focal seizures with orofacial involvement, often occurring during sleep. May progress to generalized tonic-clonic seizures.
Diagnostic Findings: EEG shows characteristic centrotemporal spikes. Neuroimaging typically normal.
7. Dravet Syndrome
Diagnostic History: Onset in the first year of life, often triggered by fever. Associated with SCN1A gene mutations.
Clinical Presentation: Prolonged seizures (often >15 minutes), hemiclonic or generalized tonic-clonic. Later development of multiple seizure types and developmental delays.
Diagnostic Findings: Genetic testing reveals SCN1A mutations in most cases. EEG may show generalized spike-wave and multifocal discharges.
8. Tuberous Sclerosis Complex
Diagnostic History: Genetic disorder with variable age of onset. Associated with TSC1 or TSC2 gene mutations.
Clinical Presentation: Multiple seizure types, including infantile spasms. Characteristic skin lesions (ash leaf spots, shagreen patches) and developmental delays.
Diagnostic Findings: MRI shows cortical tubers and subependymal nodules. Genetic testing confirms TSC1 or TSC2 mutations.
9. Landau-Kleffner Syndrome
Diagnostic History: Onset typically between 3-7 years of age. Previously normal language development.
Clinical Presentation: Progressive loss of language skills. Seizures may be infrequent or subtle, often occurring during sleep.
Diagnostic Findings: EEG shows continuous spike-and-wave discharges during slow-wave sleep. Neuroimaging typically normal.
10. Benign Familial Neonatal Seizures
Diagnostic History: Onset within the first week of life. Strong family history of neonatal seizures.
Clinical Presentation: Brief tonic or clonic seizures, often with apnea and color changes. Spontaneous resolution typically by 6 months of age.
Diagnostic Findings: Genetic testing may reveal mutations in KCNQ2 or KCNQ3 genes. EEG may show focal or multifocal discharges.
11. Childhood Absence Epilepsy
Diagnostic History: Onset typically between 4-10 years of age. May have family history of absence seizures.
Clinical Presentation: Frequent absence seizures (up to 100 per day), characterized by brief staring spells lasting 5-15 seconds. May have subtle eye or mouth movements.
Diagnostic Findings: EEG shows characteristic 3 Hz spike-and-wave discharges. Hyperventilation often triggers seizures during EEG recording.
12. Juvenile Absence Epilepsy
Diagnostic History: Onset typically around puberty (10-17 years). May have family history of epilepsy.
Clinical Presentation: Absence seizures similar to childhood absence epilepsy but less frequent. May also have generalized tonic-clonic seizures, especially upon awakening.
Diagnostic Findings: EEG shows 3-4 Hz spike-and-wave discharges. Photosensitivity may be present.
13. Benign Occipital Epilepsy of Childhood (Panayiotopoulos Syndrome)
Diagnostic History: Onset typically between 3-10 years of age. Often nocturnal seizures.
Clinical Presentation: Autonomic symptoms (nausea, vomiting, pallor), visual hallucinations, and eye deviation. Seizures often prolonged (>30 minutes).
Diagnostic Findings: EEG shows occipital spikes, enhanced by eye closure. Neuroimaging typically normal.
14. Rasmussen's Encephalitis
Diagnostic History: Rare, chronic inflammatory disorder. Typically begins in childhood (average age 6 years).
Clinical Presentation: Progressive focal seizures, often involving one side of the body. Gradual loss of motor function and cognitive decline.
Diagnostic Findings: MRI shows progressive unilateral brain atrophy. EEG shows unilateral slowing and epileptiform discharges. Brain biopsy may show inflammation.
15. Gelastic Seizures (associated with Hypothalamic Hamartoma)
Diagnostic History: Can begin in infancy or early childhood. Associated with hypothalamic hamartoma.
Clinical Presentation: Brief episodes of inappropriate laughter or giggling, often without mirth. May progress to other seizure types and cognitive decline.
Diagnostic Findings: MRI shows hypothalamic hamartoma. EEG may be normal initially but later shows epileptiform discharges.
16. CDKL5 Deficiency Disorder
Diagnostic History: Genetic disorder, typically presenting in early infancy. More common in females.
Clinical Presentation: Early-onset intractable epilepsy, often starting with infantile spasms. Severe developmental delay, impaired motor skills, and visual impairment.
Diagnostic Findings: Genetic testing reveals mutations in CDKL5 gene. EEG may show hypsarrhythmia or multifocal epileptiform discharges.
17. Pyridoxine-Dependent Epilepsy
Diagnostic History: Rare genetic disorder presenting in neonatal period or early infancy.
Clinical Presentation: Intractable seizures, often starting within hours of birth. May present with encephalopathy and irritability.
Diagnostic Findings: Dramatic response to pyridoxine administration. Genetic testing may show mutations in ALDH7A1 gene. Elevated alpha-aminoadipic semialdehyde in urine and plasma.
18. Glucose Transporter Type 1 (GLUT1) Deficiency Syndrome
Diagnostic History: Genetic disorder typically presenting in infancy or early childhood.
Clinical Presentation: Seizures (various types), developmental delay, complex movement disorders. Symptoms often improve with fasting and worsen after meals.
Diagnostic Findings: Low CSF glucose with normal blood glucose. Genetic testing shows mutations in SLC2A1 gene. EEG may show generalized spike-wave discharges.
19. Myoclonic-Astatic Epilepsy (Doose Syndrome)
Diagnostic History: Onset typically between 2-5 years of age. Previously normal development.
Clinical Presentation: Multiple seizure types including myoclonic, atonic, and absence seizures. Frequent falls due to atonic seizures ("drop attacks").
Diagnostic Findings: EEG shows generalized spike-wave and polyspike-wave discharges. Neuroimaging typically normal.
20. Benign Myoclonic Epilepsy in Infancy
Diagnostic History: Onset typically between 4 months and 3 years of age. Normal development before seizure onset.
Clinical Presentation: Brief, generalized myoclonic jerks, often occurring in clusters. Normal cognition and development.
Diagnostic Findings: EEG shows generalized spike-wave or polyspike-wave discharges. Neuroimaging typically normal.
21. Ohtahara Syndrome (Early Infantile Epileptic Encephalopathy)
Diagnostic History: Onset within the first three months of life, often within the first few weeks.
Clinical Presentation: Frequent tonic seizures, both during wakefulness and sleep. Severe developmental delay and neurological abnormalities.
Diagnostic Findings: EEG shows characteristic suppression-burst pattern. MRI may show various structural brain abnormalities.
22. Sturge-Weber Syndrome
Diagnostic History: Congenital neurocutaneous disorder, usually sporadic.
Clinical Presentation: Port-wine stain on face, seizures (often focal), hemiparesis, and developmental delay. Glaucoma may be present.
Diagnostic Findings: MRI shows characteristic leptomeningeal angioma and cerebral calcifications. EEG may show focal slowing and epileptiform discharges.
23. Rett Syndrome
Diagnostic History: Genetic disorder affecting primarily females, with regression starting between 6-18 months of age.
Clinical Presentation: Loss of acquired skills, characteristic hand stereotypies, microcephaly, and seizures in about 80% of cases.
Diagnostic Findings: Genetic testing reveals mutations in MECP2 gene. EEG may show slowing of background activity and epileptiform discharges.
24. Angelman Syndrome
Diagnostic History: Genetic disorder with onset of symptoms in infancy or early childhood.
Clinical Presentation: Severe developmental delay, absent speech, ataxia, characteristic happy demeanor, and seizures in 80-90% of cases.
Diagnostic Findings: Genetic testing shows maternal deletion or mutation of UBE3A gene. EEG has characteristic high-amplitude delta rhythm with spike-wave discharges.
25. Benign Familial Infantile Epilepsy
Diagnostic History: Onset between 3-12 months of age. Family history often positive for similar seizures.
Clinical Presentation: Brief focal seizures with secondary generalization, occurring in clusters. Normal development.
Diagnostic Findings: EEG may be normal or show focal epileptiform discharges. Genetic testing may reveal mutations in PRRT2 gene.
26. Malignant Migrating Partial Seizures of Infancy
Diagnostic History: Onset in the first six months of life, often within the first few weeks.
Clinical Presentation: Frequent, polymorphous focal seizures that migrate from one cortical region to another. Severe developmental delay.
Diagnostic Findings: EEG shows characteristic pattern of seizures arising independently from multiple foci in both hemispheres. Genetic testing may reveal mutations in KCNT1 gene.
27. PCDH19-Related Epilepsy
Diagnostic History: Genetic disorder affecting primarily females, with onset typically before 3 years of age.
Clinical Presentation: Clusters of focal and generalized seizures, often triggered by fever. Variable cognitive impairment and autistic features.
Diagnostic Findings: Genetic testing reveals mutations in PCDH19 gene. EEG may show focal or multifocal epileptiform discharges.
28. Epilepsy of Infancy with Migrating Focal Seizures
Diagnostic History: Onset in the first six months of life, typically within the first few weeks.
Clinical Presentation: Frequent focal seizures that migrate from one body part to another and from one hemisphere to the other. Profound developmental delay.
Diagnostic Findings: EEG shows characteristic pattern of seizures shifting from one cortical region to another. Genetic testing may reveal mutations in various genes, including KCNT1.
29. SCN2A-Related Epilepsy
Diagnostic History: Genetic disorder with variable age of onset, from neonatal period to childhood.
Clinical Presentation: Spectrum of seizure types and severity, from benign familial neonatal-infantile seizures to severe epileptic encephalopathies.
Diagnostic Findings: Genetic testing reveals mutations in SCN2A gene. EEG findings vary based on phenotype, from normal to severely abnormal.
30. KCNQ2-Related Epilepsy
Diagnostic History: Genetic disorder with onset typically in the neonatal period.
Clinical Presentation: Ranges from self-limited familial neonatal epilepsy to severe epileptic encephalopathy. Seizures often tonic in nature.
Diagnostic Findings: Genetic testing reveals mutations in KCNQ2 gene. EEG may show burst-suppression pattern in severe cases or multifocal epileptiform discharges.
31. Epilepsy with Myoclonic-Atonic Seizures (Doose Syndrome)
Diagnostic History: Onset typically between 2-5 years of age in previously normal children.
Clinical Presentation: Multiple seizure types including myoclonic, atonic, and absence seizures. Frequent falls due to atonic seizures ("drop attacks").
Diagnostic Findings: EEG shows generalized spike-wave and polyspike-wave discharges. Neuroimaging typically normal.
32. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)
Diagnostic History: Genetic disorder with onset typically in childhood or adolescence. Strong family history.
Clinical Presentation: Brief seizures during sleep, often with complex motor behaviors, vocalizations, or wandering. Often misdiagnosed as parasomnia.
Diagnostic Findings: Genetic testing may reveal mutations in CHRNA4, CHRNB2, or CHRNA2 genes. EEG may be normal or show frontal epileptiform discharges.
33. Benign Epilepsy with Centrotemporal Spikes (BECTS)
Diagnostic History: Most common childhood epilepsy syndrome, with onset between 3-13 years.
Clinical Presentation: Focal seizures with orofacial and sometimes upper limb involvement, often occurring during sleep. Usually outgrown by adolescence.
Diagnostic Findings: EEG shows characteristic centrotemporal spikes, enhanced by sleep. Neuroimaging typically normal.
34. Jeavons Syndrome (Eyelid Myoclonia with Absences)
Diagnostic History: Onset typically in childhood, often around 6-8 years of age.
Clinical Presentation: Brief seizures characterized by eyelid myoclonia, often with upward deviation of eyes. Seizures triggered by eye closure and photic stimulation.
Diagnostic Findings: EEG shows high-amplitude generalized spike-wave discharges induced by eye closure. Photosensitivity often present.
35. FIRES (Febrile Infection-Related Epilepsy Syndrome)
Diagnostic History: Onset in previously healthy children, typically between 3-15 years, following a febrile illness.
Clinical Presentation: Acute onset of refractory status epilepticus or cluster of seizures. Often progresses to chronic drug-resistant epilepsy and cognitive decline.
Diagnostic Findings: Initial EEG may show focal or multifocal discharges progressing to electrical status epilepticus. MRI may show T2/FLAIR hyperintensities in various brain regions.
36. Epilepsy with Grand Mal Seizures on Awakening
Diagnostic History: Onset typically in adolescence or early adulthood.
Clinical Presentation: Generalized tonic-clonic seizures occurring predominantly shortly after awakening, regardless of time of day. May also have absence or myoclonic seizures.
Diagnostic Findings: EEG shows generalized spike-wave discharges, often with photosensitivity. Neuroimaging typically normal.
37. Reflex Epilepsies (e.g., Hot Water Epilepsy)
Diagnostic History: Can begin at any age, but often in childhood or adolescence.
Clinical Presentation: Seizures triggered by specific stimuli, such as hot water on the head, specific sounds, or complex activities. Seizure type varies.
Diagnostic Findings: EEG may be normal interictally or show focal/generalized epileptiform discharges. Provocative testing with specific trigger may induce seizures and EEG changes.
38. Epilepsy with Myoclonic Absences
Diagnostic History: Onset typically between 5-15 years of age.
Clinical Presentation: Absence seizures accompanied by rhythmic myoclonic jerks, often with tonic contraction. May have cognitive and behavioral issues.
Diagnostic Findings: EEG shows 3 Hz spike-wave discharges during seizures, often with polyspikes. Neuroimaging typically normal.
39. Sunflower Syndrome
Diagnostic History: Rare photosensitive epilepsy, typically beginning in childhood or adolescence.
Clinical Presentation: Characteristic hand-waving in front of eyes when exposed to bright light, accompanied by absence-like seizures. May progress to generalized seizures.
Diagnostic Findings: EEG shows photosensitivity with generalized spike-wave discharges. Video-EEG monitoring may capture characteristic episodes.
40. PCDH19-Related Epilepsy
Diagnostic History: X-linked genetic disorder affecting primarily females, with onset in early childhood.
Clinical Presentation: Clusters of fever-sensitive seizures, often with focal onset. Cognitive and behavioral problems may develop.
Diagnostic Findings: Genetic testing reveals mutations in PCDH19 gene. EEG may show focal or multifocal epileptiform discharges.
41. SLC6A1-Related Epilepsy
Diagnostic History: Genetic disorder with variable age of onset, typically in early childhood.
Clinical Presentation: Myoclonic-atonic seizures, absence seizures, and developmental delay. Some patients may have autism spectrum disorder.
Diagnostic Findings: Genetic testing reveals mutations in SLC6A1 gene. EEG often shows generalized spike-wave discharges.
42. STXBP1-Related Epilepsy
Diagnostic History: Genetic disorder with onset typically in infancy, sometimes presenting as Ohtahara syndrome.
Clinical Presentation: Early-onset epileptic encephalopathy with various seizure types. Severe developmental delay and intellectual disability.
Diagnostic Findings: Genetic testing reveals mutations in STXBP1 gene. EEG may show suppression-burst pattern in infancy, later evolving to hypsarrhythmia or multifocal discharges.
43. CHD2-Related Epilepsy
Diagnostic History: Genetic disorder with onset typically in early childhood.
Clinical Presentation: Myoclonic seizures, often with photosensitivity. Generalized tonic-clonic seizures and absences may occur. Intellectual disability is common.
Diagnostic Findings: Genetic testing reveals mutations in CHD2 gene. EEG shows generalized spike-wave discharges, often with photoparoxysmal response.
44. Lafora Disease
Diagnostic History: Rare genetic disorder with onset typically in late childhood or adolescence.
Clinical Presentation: Progressive myoclonus epilepsy with cognitive decline. Visual hallucinations may be an early symptom.
Diagnostic Findings: Genetic testing reveals mutations in EPM2A or NHLRC1 genes. Skin biopsy shows characteristic Lafora bodies. EEG shows generalized spike-wave and polyspike-wave discharges.
45. Epilepsy with Continuous Spike-and-Waves during Sleep (CSWS)
Diagnostic History: Age-related epileptic encephalopathy with onset typically between 2-12 years.
Clinical Presentation: Various seizure types, cognitive regression, and behavioral problems. Seizures may be infrequent during wakefulness.
Diagnostic Findings: EEG shows continuous spike-and-wave discharges occupying >85% of slow-wave sleep. Neuroimaging may be normal or show various abnormalities.
46. Epilepsy in Cerebral Palsy
Diagnostic History: Seizures commonly associated with cerebral palsy, with variable age of onset.
Clinical Presentation: Various seizure types depending on the underlying brain injury. Motor and cognitive impairments related to cerebral palsy.
Diagnostic Findings: EEG may show focal or multifocal epileptiform discharges. Neuroimaging often reveals structural brain abnormalities associated with cerebral palsy.
47. Epilepsy in Autism Spectrum Disorders
Diagnostic History: Higher prevalence of epilepsy in individuals with autism spectrum disorders (ASD), with variable age of onset.
Clinical Presentation: Various seizure types. May be challenging to recognize due to overlap with ASD behaviors. Regression in skills may occur with seizure onset.
Diagnostic Findings: EEG may show focal or generalized epileptiform discharges. Neuroimaging may be normal or show various abnormalities.
48. Epilepsy in Metabolic Disorders (e.g., Mitochondrial Diseases)
Diagnostic History: Seizures as part of a broader spectrum of symptoms in various metabolic disorders. Age of onset varies.
Clinical Presentation: Various seizure types. Often accompanied by other neurological and systemic symptoms specific to the underlying metabolic disorder.
Diagnostic Findings: EEG findings vary. Metabolic testing (blood, urine, CSF) may reveal specific abnormalities. Genetic testing may identify underlying mutations.
49. Epilepsy in Chromosomal Disorders (e.g., Ring Chromosome 20 Syndrome)
Diagnostic History: Seizures associated with various chromosomal abnormalities. Age of onset depends on specific syndrome.
Clinical Presentation: Seizure types and severity vary depending on the specific chromosomal disorder. Often accompanied by dysmorphic features and developmental delay.
Diagnostic Findings: Chromosomal analysis or microarray reveals specific abnormalities. EEG findings vary but may show characteristic patterns in some syndromes.
50. Focal Cortical Dysplasia
Diagnostic History: Congenital malformation of cortical development. Age of seizure onset varies but often in childhood.
Clinical Presentation: Focal seizures, often drug-resistant. Type and severity of associated neurological deficits depend on the location and extent of the dysplasia.
Diagnostic Findings: High-resolution MRI may show characteristic cortical thickening or blurring of gray-white matter junction. EEG typically shows focal epileptiform discharges. Surgical resection may be curative in some cases.
