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| Paroxysmal non-epileptic events | |||
| Category | Condition | Clinical features | Investigations |
| Sleep phenomena | Benign neonatal sleep myoclonus (BNSM) | Flurries of limb myoclonia while asleep | Home video, show parents video of another child with BNSM |
| Repetitive sleep starts | Neurodevelopmentally abnormal children; runs of brief tonic episodes (spasms) (may also have epilepsy) | Video/EEG/EMG in sleep to confirm non-epileptic nature | |
| Behaviours | Tonic reflex seizures of early infancy (in otherwise normal infants) | Stiffenings when held upright especially after feeds (some resemblance to awake apnoea of Spitzer - a manifestation of gastrooesophageal reflux) | Evoke episodes on video |
| Shuddering | Transient shudders and tremors in infants or toddlers | Home video | |
| Benign non-epileptic infantile spasms (benign myoclonus of early infancy) | Runs of spasms mainly affecting upper limbs - interrupted on distraction | Video, video EEG/EMG to show lack of EEG complexes | |
| Infantile masturbation/gratification | Rhythmic repetitive thigh adduction, 'distant' or absorbed appearance often in car seat, cease with distraction | Home video | |
| Stereotypies | Often in learning disabled or autistic children, excited flapping | Home video | |
| 'Psychological' | Daydreams and non-epileptic absences | Often in school | May need EEG with hyperventilation and video, ictal EEG slowing (delta) but no spikes |
| Pseudoepileptic convulsions | Episodes when others present | Video-EEG | |
| 'Benign syncopes' | Prolonged expiratory apnoea (blue breath-holding) | Unpleasant stimuli, rapid cyanosis and opisthotonus | Home video |
| Reflex asystotic syncope | Head bump or other pain stimulus; tonic episode with spasms, often pallor but not always | If not typical, 12-lead ECG for QTc (cardiac monitoring if very severe) | |
| Vasovagal syncope | Common faint, often 'convulsive' | Head-up tilt not usually required | |
| Vagovagal syncope | Swallowing or vomiting are triggers | ECG/EEG while eating or provoked by vomiting | |
| Convulsive Valsalva | Autistic or asymbolic child; true breath-hold often follows hyperventilation | Video/audio (to hear respiratory noise then silence) | |
| 'Malignant' syncopes | Hyperekplexia | Stiff apnoeas in neonate preceded by staccato cry; nose-tap positive, startle | Video-audio; EEG/ECG/EMG (rhythmic 8-30Hz compound muscle action potentials); GLRA1 and G/yT2 gene analysis |
| 'Malignant' syncopes | Paroxysmal extreme pain disorder | Tonic episodes with flushing; often Harlequin in neonate | Video; SCN9A mutation need not be detected |
| Long-QT syndromes | Loss of consciousness, stiffness, anoxic seizure - exercise, fright, sudden sound, sleep, swimming | 12 lead ECG ± implantable ECG monitor ± ion channel gene mutation analysis | |
| Imposed upper airways obstruction | 'Seizure' or syncope in infant in presence of carer alone but shown to others (family or hospital staff] do not occur when carer not with infant | Video (covert) EEG/ECG/EMG recording of episode (covert video surveillance requires legal sanction) | |
| 'Dizzy' spells | Paroxysmal vertigo | 'Drunk' with nystagmus during episodes | Home video (ask parents to focus videocamera on child's eyes) |
| Paroxysmal torticollis | Lateral head tilt | Home video. (CACNA1A studies not required) | |
| More prolonged in Sandifer syndrome and in cervical dystonia | If episodes prolonged, gastrointestinal studies | ||
| Craniocervical junction disorder | Falls, brief stiffness, headache | MRI especially sagittal for Chiari J and upper cord | |
| Alternating hemiplegia | Alternating hemiplegia of childhood | Tonic episodes, nystagmus often monocular/eye deviations onset first 3 months, then alternating hemiplegia (limp or dystonic), may be precipitated by bathing always relieved by sleep, later fixed choreoathetosis | Home video. No more extensive investigations if history not difficult |
| Benign familial alternating hemiplegia | Autosomal dominant family history: hemiplegia arises from sleep in otherwise normal children | Home video | |
| Moyamoya | Transient hemipareses, migrainous headaches, paroxysmal dyskinesia or torticollis | 'Re-build-up' on EEG after hyperventilation (but avoid hyperventilation if moyamoya known). Brain MRI/MRA | |
| Cataplexies | Narcolepsy-cataplexy | Joke-induced; collapses, face and neck muscles first to go. No loss of consciousness (children also have excessive daytime sleepiness) | Video. Sleep latency test ± human leukocyte antigen ± CSF hypocretin |
| Niemann-Pick type C | Usually but not always defect in vertical gaze | Video, abdominal ultrasound for subtle splenomegaly, plasma chitotriosidase, bone marrow for sea-blue histiocytes, fibroblast culture for cholesterol studies | |
| Cataplexies | Paraneoplastic hypothalamic syndrome | May also have narcolepsy and other neurological features | Body imaging for occult neural crest tumour |
| Syndromes with dominant cataplexy: Prader-Willi, Coffin-Lowry, etc. | Family history or syndromic phenotype | Home or hospital video | |
| Episodic ataxias | Episodic ataxia type 1 (EA1) | Infantile 'cerebral palsy', myokymia, brief staggers | Video, surface EMG for myokymia. KCN1A mutations |
| Episodic ataxia type 2 (EA2) | Vomiting, prolonged unsteadiness, nystagmus + smooth pursuit disruption, acetazolamide-responsive | Video, MRI for vermis atrophy. 31P-MRS shows increased pH in cerebellum, reversed by acetazolamide. CACNA1A mutations possible but time-consuming | |
| Other episodic ataxias | Various neurological accompaniments | Include testing for GLUT1 deficiency (fasting blood and CSF glucose with lactate) and mitochondrial investigations | |
| Paroxysmal dyskinesias | Paroxysmal kinesigenic dyskinesia (PKD) | Dyskinesia (choreoathetosis/ dystonia) at onset of movement | Video |
| PKD in hypotonic/dystonic young male child ± ocular wobble ± MRI delayed myelination | Dystonia provoked by passive movements or lifting the child | Thyroid function: ↑ freeT3, ↓ free T4. MCT8 testing | |
| Paroxysmal dyskinesias | Paroxysmal non-kinesigenic dyskinesia | Unprovoked episodes of dyskinesia | Video. (Myofibrillogenesis regulator 1 gene involved) |
| Paroxysmal exertional dyskinesia | Various dyskinesias during strenuous exercise (may also have epileptic seizures; see Chapter 3.15) | Glucose transporter \ deficiency tests (fasting, blood and CSF glucose); echinocytes may rarely be seen on blood film | |
| Psychogenic dyskinesias | Psychogenic movement disorders cease with distraction if the child does not think he or she is being observed | Share video with movement disorder expert if in doubt | |
| Benign tonic upgaze | Intermittent tonic upgaze in infancy | Video. (No need for neurotransmitter or CACNA1A studies) | |
| Benign tonic downgaze | Especially in newborn infants | Intermittent tonic downgaze in normal neonate | Video. Head ultrasound would be wise |
| Night terrors | 1-2 (-3) total in early part of the night | Sleep video (best with infrared) | |
Source:
Mary D. King, 2009. A Handbook of Neurological Investigations in Children. 1 Edition. Mac Keith Press.
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Differential diagnosis of seizures with fever
The following diagnostic possibilities exist, these not being mutually exclusive.
1. The convulsion is not an epileptic seizure nor an anoxic seizure but is a rigor or an hallucination or febrile myoclonus or febrile ataxia.
2. The seizure is a febrile syncope similar to a syncope suffered by adults with influenza and fever.
3. The seizure is a syncope due to ventricular tachyarrhythmia precipitated by fever Brugada syndrome (a sodium channelopathy with several ECG patterns).
4. The seizure represents the presence of a gene for one or other type of epilepsy, albeit genetic analysis may not be practicable.
5. The febrile seizure, especially if prolonged and lateralized (hemiclonic) may be the start of Dravet syndrome or severe myoclonic epilepsy of infancy (SMEI), with a mutation in SCN1A.
6. The febrile seizure may be a manifestation of an SCN1A mutation in a family with GEFS+ (genetic epilepsy with febrile seizures plus).
7. The seizures may reflect static focal pathology even if the infant or child has had no previously known neurological signs.
8. Febrile seizures may represent the onset of a chronic progressive pathology such as Alpers disease due to a mutation in the nuclear mitochondrial gene POLG1.
9. The febrile seizures may be a manifestation of an acute encephalopathy due to a central nervous system infection such as pyogenic or tuberculous meningitis, herpes simplex encephalitis or human herpes virus 6 or 7 infection.
10. The febrile seizure may be a manifestation of a metabolic encephalopathy, the encephalopathy having been precipitated by the catabolism of the febrile illness. In this case the febrile seizure may be a tonic non-epileptic one with loss of ability to localize pain due to brain herniation.
Investigations relate to the question being asked:
1. Is there a treatable disorder?
Irrespective of the age of the child and whether it be the first, second, third or fourth febrile seizure, it is incumbent upon the paediatrician to think whether there could be an underlying pyogenic, tuberculous, herpesvirus or other intracranial infection.
The primary investigation is lumbar puncture with pressure measurement and CSF examination, unless failure to localize pain or other signs suggest that brain herniation is likely.
2. Is there evidence of acute encephalopathy?
Blood and CSF studies may indicate viral infections such as human herpes virus 6 but this will not influence management.
3. Is there evidence of a preexisting static lesion?
Answering this question is not usually helpful and brain MRI is not indicated.
4. Is there evidence of an underlying progressive disorder?
Atypical features, such as unexpectedly high CSF protein, may he a clue to an underlying mitochondrial disorder, in particular mutations in POLG1.
5. Will the febrile seizures recur?
An EEG examination will not answer this question.
6. Can one predict later epilepsy?
EEG examination will not answer this question.
A structural lesion on brain MRI might be predictive but such an investigation is not normally justified.
A pathogenic mutation in SCN1A indicates the beginning of Dravet syndrome and may be helpful for guiding antiepileptic therapy later.
7. Was this vaccine encephalopathy or vaccine damage?
No investigation can support an allegation of' vaccine damage', but finding a pathogenic mutation in SCN1A is a convincing alternative explanation. The best known explanations for deterioration after DTP vaccine are as follows: (1) the start of Dravet syndrome; (2) a mitochondrial disorder, such as due to a mutation in POLG1; (3) metabolic decompensation as in (undiagnosed) glutaric aciduria type 1.
Febrile regression
- The onset of eIF2B-related disorders may be with fever-related acute regression but not febrile seizures.MRI and CSF asialotransferrin should clarify. Acute necrotizing encephalopathy and bilateral striatal necrosis - probably related nuclear pore disorders
Source:
Mary D. King, 2009. A Handbook of Neurological Investigations in Children. 1 Edition. Mac Keith Press.
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| Condition | Clinical | Investigations |
|---|---|---|
| Down syndrome | Infantile spasms common (2%) and easily overlooked | Interictal EEG slow general spike wave or hypsarrhythmia (chromosomes of course) |
| 1p36 deletion | Dysmorphism with straight eyebrows and deep-set eyes, the most common seizure type is infantile spasms | Karyotype, fluorescent in situ hybridization, multiplex ligation-dependent probe amplification |
| Ring chromosome 14 | Very mild dysmorphism, early infantile serial tonic | Count sufficient metaphases |
| Lesional epilepsy | Vast range of lesions especially focal cortical dysplasia; partial epilepsies of any kind with onset at any age | Brain MRI but may need ictal SPECT, PET and high-resolution MRI especially if surgical intervention likely |
| Epilepsia partialis continua | Unilateral with atrophy may suggest Rasmussen encephalitis | Anti-brain antibodies not helpful in diagnosing Rasmussen |
| Unilateral onset in infancy | High-resolution brain MRI for cortical dysplasia | |
| Variable sites may suggest mitochondrial, especially Alpers, with RHADS (rhythmic high-amplitude delta with superimposed spikes) on EEG | P0LG1 and other mitochondrial investigations | |
| Video game epileptic seizures | Situational photic or pattern-sensitive epileptic seizures | EEG/EC6 with photic and pattern stimulation including monocular |
| Progressive myoclonus epilepsies | Various | |
| Common metabolic problems (sodium, calcium, glucose, etc.) | Convulsive seizures most likely clonic, perhaps tonic-clonic, depends on age | 'Routine' electrolytes, calcium, phosphorus, glucose |
| Pyridoxine dependency | Neonatal especially with suppression-burst, neonatal tonic-clonic epilepsy with status until age 3y, might be Dravet-like | Pyridoxine trial, plasma and urine alpha-aminoadipic semialdehyde (α-AASA), pipecolic acid |
| Pyridoxal phosphate-responsive seizures | Neonatal encephalopathy with suppression-burst, not known if occurs later in infancy | Pyridoxal phosphate trial. CSF amino acids. PNPO gene analysis |
| Folinic acid-responsive seizures | As for pyridoxine dependency | Folinic acid trial but also pyridoxine |
| Adenylosuccinate lyase (ADSL) deficiency | Delay with hypotonia usually precedes epilepsy, autism, self-mutilation, postconvulsive hemiplegia reported, various seizures may be intractable with EEG S/W; MRI may show 'hypomyelination' | Urine succinylpurines, possible ADSL mutation |
| Serine synthesis deficiency | Early (first month) intractable seizures ('cyanotic episode') jerking, tonic posturing. Microcephaly. MRI ± hypomyelination | CSF serine and glycine, gene analysis especially P5AT1 |
| Menkes disease, mild forms possible | Kinky hair detectable on microscopy, bone changes and subdural haemorrhage may simulate child abuse, various seizures including spasms | Copper, copper oxidase |
| Untreated phenylketonuria (PKU) missed | Missed PKU may be seen in countries without neonatal screening tests; autism, stereotypies, developmental delay, infantile spasms | Plasma and urine amino acids |
| Mitochondrial disorder | Seizures especially epilepsia partialis continua; may have basal ganglia signal change or cerebellar atrophy or lesions in cortical grey matter especially in occipital regions; multiorgan involvement | Lactates:. Genes: especially P0LG1 |
| Guanidinoacetate methyl transferase deficiency | Developmental delay; epileptic seizures ± early absences and myoclonus; brain H-MRS: absent creatine peak | ↑ urine guanidinoacetate, ↓ creatine on brain H-MRS |
| Glucose transporter 1 deficiency | Acquired microcephaly, spasticity and delayed development may be absent; early absences and myoclonic seizures may be feed- or meal-related, worse when hungry; epileptic seizures are ketogenic diet-responsive, as may be paroxysmal movements and ataxia | Fasting blood and CSF glucose |
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| EEG pattern in common epileptic seizures | ||||
| Seizure type | Semiology | Ictal EEG | Ictal EMG (both deltoids) | Comments |
| Generalized tonic-clonic | Stiffening → vibration → rapid face and limb twitching → slowing in jerk rate → stupor after 1-1 1/2 minutes | Massive generalized EMG obscures very fast spikes → decelerating generalized spike and wave (S/W) | Generalized high-voltage continuous | Mature seizure type of older children and adolescents. 'Generalized tonic-clonic' is much misused for any infantile convulsion |
| Clonic | Rhythmic or semi-rhythmic or syncopated jerks | Generalized rhythmic or semi-rhythmic S/W | Semi-rhythmic accentuations | Many infantile convulsions including anoxic epileptic seizures (AES) |
| Hemiclonic | Unilateral semi-rhythmic | Contralateral semi-rhythmic S/W | Contralateral semi-rhythmic accentuations | Many infantile convulsions including anoxic epileptic seizures (AES) |
| Absence (sudden-onset blank 10s or more duration) | Maybe rhythmic small jerks eyelids or neck | 3/s generalized S/W | None | Inducible by hyperventilation |
| Myoclonic-absence | Upper limbs slowly elevate with rhythmic jerks of shoulders | Generalized 3/s S/W | Incremental tonic activity, superimposed 3/s high-voltage transients | Surface EMG (as bilateral deltoid) is a necessary part of EEG examination |
| Myoclonic | Isolated clustered or rhythmic jerks | Polyspike-wave or irregular spike/polyspike-wave | Spike-like 10-100ms bursts singly or in groups | Seen in many epileptic syndromes and situations |
| Negative myoclonic (atonic/astatic) | Jerk/drop, singly or clustered | Polyspike followed by a high-amplitude slow wave | Ongoing EMG disappears during drop | Video may add |
| Spasm | Longer than myoclonus, usually in runs | Serial biphasic slow complexes with superimposed fast (beta) often central and time-locked with spasms | Diamond or rhomboidal bursts of 0.5-2s duration | Hypsarrhythmia but not always; also seen in older children |
| Tonic | Several seconds stiffening, agonists and antagonists | Flattening or attenuation of background with superimposed low-voltage fast activity and loss of previously seen interictal discharges | High-voltage continuous ('fuzz') | Seen in severe epilepsies as Lennox-Gastaut syndrome |
| Partial/focal/ localization-related | Any site, any semiology | Localized/lateralized morphology varies with age, ± secondarily generalized | Depends on site of origin | Seen in genetic ('idiopathic') and structural epilepies |
| Epileptic syndromes | ||||||
| Epileptic syndrome | Age of onset | Age of offset | Clinical | Interictal EEG | Ictal EEG | Additional investigation |
| Epileptic encephalopathy with suppression bursts | Prenatal, day 1, first weeks | Not unless abolished by pyridoxine or pryridoxal phosphate | Spasms, jerks; profound delay if untreated | Suppression-burst | Bursts | Pyridoxal phosphate trial or pyridoxine trial if pyridoxal phosphate not available, urine α-AASA, CSF amino acids, copper, copper oxidase, catecholamines, brain MRI, ARX, STXBP1 |
| Hemifacial spasms | Day 1 (but may be later) | Only if surgery | Exceedingly frequent facial contractions with winking, eye movement, autonomic disturbance | Normal | Normal except for eyelid movement artefact | Brain MRI, ictal SPECT (hamartoma of floor of fourth ventricle with neuronal elements on surgery) |
| Gelastic/dacrystic seizures | Day 1 (more often later) | Only if surgery | Exceedingly frequent brief bouts of laughter → crying, autonomic. Behavioural arrest if untreated | Often normal | May be normal | Audio with video, MRI including sagittal T2, ictal SPECT (hypothalamic hamartoma on surgery) |
| Neonatal tonic-clonic seizures | First week | Uncertain | Tonic-clonic or tonic-myoelonic seizures with posturing → focal or multifocal clonic | 'Abnormal' | Flattening → focal or bilateral discharges | Pyridoxal phosphate or pyridoxine trial, urine α-AASA, KCNQ2 mutations |
| Benign neonatal-infantile seizures | Neonate-3mo | <1y | Convulsive, often clusters ± head and eye deviation | Normal or maybe spikes in sleep | Lateralized then generalization | Mutations in SCN2A (diagnosis at 3mo avoids bad prognosis) |
| CDKL5-related epilepsy | 4w (1-10w) | ?? Not usually | Stares, flush, tonic ± → clonic; → frequent spasms; ± Rett-like | ± Normal | Flattening | Mutations in CDKL5 |
| DEND (delay, epilepsy, neonatal diabetes mellitus) | 3mo | ? | Neonatal diabetes mellitus, West syndrome with spasms | Independent spikes | ? | Sulphonylurea-responsive mutations in Kir6.2 (potassium ATP channel) |
| Malignant migrating partial seizures | 40d (neonate -3mo) | ? Never | Partial, autonomic, vary from seizure to seizure, appear with increasing frequency over time | Normal to slow, multifocal sharp | Independent R + L sharp runs in theta or alpha frequency | Candidate for novel investigations |
| GLUT1 deficiency (glucose transporter deficiency without full DeVivo syndrome) | ~3-6mo (more data needed) | If given ketogenic diet | Early absences, myoclonic episodes before feeds | Often focal spikes in infancy, generalized S/W in older children (like idiopathic generalized epilepsy) | S/W runs | Fasting blood and CSF glucose + lactate. SLCA1 mutation |
| West syndrome (serial epileptic spasms, regression) | 5mo (4-7mo) | Various | Spasm runs with loss of contact and regression - many possible associations, e.g. Down syndrome | Hypsarrhyth-mia usually | Runs of spasms | MRI, karyotype, 1p36 ARX, CDKLS, SCN1A, rarely metabolic, incl. D-bifunctional protein defect |
| Benign familial infantile seizures (BFIS)/benign partial epilepsy of infancy | 5-6mo (3-18mo) | <2y | Clusters of brief seizures with loss of contact, motor arrest ± head and eye deviation, some automatisms ± secondary generalization; normal development; ± → paroxysmal kinesigenic dyskinesia | Normal | Fast spikes in various locations ± → generalized S/W | No additional investigations required |
| Benign myoclonic epilepsy of infancy | 6mo | Usually 6mo-5y after | Jerks without falls singly or in clusters; may have later generalized tonic-clonic seizures in adolescence | Normal | Generalized polyspike and wave | None (but not known if might be GLUT1D manifestation) |
| Reflex myoclonic epilepsy of infancy | 6-21 mo | Within 4-14mo | Run of a few myoclonic jerks if startled as with a tap on the head | Normal | Generalized S/W | None |
| Angelman syndrome | 9mo | ~Never | Seizure onset before Angelman features obvious (median age at diagnosis 60mo); absences, myoclonic | Spike on sharp wave on passive eye closure, frontal slow runs, theta | Various S/W runs | Emphasizes importance of passive eye closure during EEG and at least brief video in all EEG recordings |
| Dravet syndrome [including severe myoclonic epilepsy in infancy (SMEI) and SMEI-borderline] | 3-12mo (<18mo) | No | Long especially hemiclonic febrile seizures, clonic, tonic-clonic later ± myoclonic | Normal early ± photosensitivity, background slows with age | Polyspike-wave, generalized S/W, focal discharges | Mutations in SCN1A and less often in PCDH19 |
| Febrile seizures (FS) | 3mo - <6y | <6y | Wot rigor febrile syncope, 'breath-holding spell', reflex asystolic syncope; temperature >38°C (101°F) probably clonic or tonic | Normal, later ± hypnagogic S/W. age 3-4y | Very rarely captured | Investigations for infections, etc. . Brain MRI not required |
| Febrile seizures plus 05*) | FS <3mo or="">6y | ? | ± Afebrile epileptic seizures. NB genetic epilepsy with FS+ (GEFS+) is not a patient diagnosis but is a family one | Usually normal | Not known | Not MRI. SCN1A or other mutation possible |
| Febrile status epilepticus (FSE) | Median 1.3y (interquartile range 0.99-2.2y) | ? | Median duration 68min. Semiology disputed but includes clonic | Probably normal | Prolonged discharges | Brain MRI normally not required unless suspect encephalitis |
| Benign convulsions with mild gastroenteritis | Median 23mo with rotavirus | After illness | Asian, especially Japanese clusters within 5d of gastroenteritis | Not known | Not known | Viral studies especially rotavirus |
| Benign focal epilepsy in infancy with midline S/W during sleep | T7mo (4-30mo) | 26mo | Cyanosis (especially perioral), stare, behavioural arrest, not secondary generalization postictal sleep (most don't need therapy) | In sleep vertex (midline) spike and bell-shaped wave | Vertex theta runs | None |
| Late-onset 'juvenile spasms' | >12mo | ? Never | Cryptogenic or structural, e.g. double cortex/subcortical band heterotopia | Varied | Runs of serial complexes: slow + fast superimposed | Brain MRI |
| Myoclonic-astatic epilepsy | 18-50mo | ?36-100mo | Tonic-clonic, myoclonic-astatic, myoclonic, + myoclonic status, no tonic seizures, may remit | S/W on falling asleep | Generalized S/W bursts with special EMG features: EMG burst → EMG loss | Brain MRI commonly normal (in severe learning disability consider MECP2 duplication by MLPA) |
| Lennox-Gastaut syndrome | 3-5y | ? Never | Axial tonic in sleep, atypical absences; learning disability; cryptogenic and symptomatic; nonconvulsive status epilepticus common | Slow background, slow S/W awake, high-voltage 10-l2Hz in sleep | Flattening with tonic EMG | Brain MRI and possibly other aetiological investigations as not a single-cause diagnosis |
| Panayiotopoulos syndrome | 3-6y(l-10y) | Usually within 2y | ± From sleep: ictus emeticus (epileptic seizure with nausea and vomiting at onset) pallor and other autonomic features, eye deviation, flaccidity, ± >30min duration then called autonomic status epilepticus | Spikes may be occipital but other sites, such as rolandic, more likely to be seen in sleep. ± Fixation-off sensitivity with occipital discharges | Spike runs occipital but from other sites; may be cardiorespiratory arrest | Panayiotopoulos syndrome diagnosis prevents many other investigations. Brain MRI only if not certain about neurodevelopmental normality at time of first episode |
| Landau-Kleffner syndrome. Continuous spike-wave in sleep 1CSWS) also called ESES (epileptic status epilepticus in sleep) | 2-8y | Varied | Auditory agnosia, cognitive decline; learning difficulties may overshadow subtle epileptic seizures if present. Decline in abilities of a child with shunted hydrocephalus may be due to unrecognized CSWS | Perisylvian spike complexes slow spike-wave in non-REM sleep = CSWS | Various | Brain MRI often done; place of functional imaging uncertain |
| Ring chromosome 20 | 4-8y(day1-17y) | ? | Most have normal development before seizure onset, typical episodes of terror and hallucination may not begin till after age 4y. Neurobehavioural decline with seizures, potentially reversible | Prominent rhythmic frontal slow (delta, but also theta) ± spikes - may not be seen in early years | Frontal onset discharges | Chromosome karyotype with request to count 200 mitoses |
| Childhood absence epilepsy (CAE) | Peak 5-6y (4-10y) | 2-6y after onset | Pure sudden on and sudden off blanks, usually hyperventilation-induced | Normal, not photosensitive + occipital intermittent rhythmic delta activity | Symptomatic bursts of 3/s S/W with one spike per wave, often 10s or more absences | Video during hyperventilation in clinic may suffice, but ictal EEG with video best in case pseudo-epileptic absences. If atypical and food (meal) related consider GLUT1 deficiency |
| Childhood absence epilepsy with photoparoxysmal response | 4-10y | ? As CAE | As for CAE except photoparoxysmal response on EEG | Normal but generalized spike/ polyspike and wave on stroboscopic activation | Symptomatic bursts of 3/s S/W with one spike per wave | Video during hyperventialtion in clinic may suffice, but ictal EEG with video best in case pseudo-epileptic absences. If atypical and food (meal) related consider GLUT1 deficiency |
| Epilepsy with myoclonic absences | 7y11-12y) | May not | Upper limbs slowly elevate with 3/s jerks | Normal background ± generalized S/W bursts | 3/s S/W with incremental tonic EMG and superimposed 3/s EMG bursts | Video. Consider GLUT1 deficiency and chromosomes (e.g. trisomy 12p) |
| Benign rolandic epilepsy (BRE)/ benign epilepsy with centra-temporal spikes (BECTS) | 7-8y(4-14y) | Within 2-4y of onset (<16y) | Hemifacial-salivatory often from sleep, family holiday in back of car; secondary generalization common | Rolandic or centro-temporal spike complexes | Focal discharge during episodes | No need for brain MRI if history typical and neurologically normal. Rolandic spikes more common in those without epilepsy |
| Childhood occipital epilepsy of Gaslsul | 8y(3-15y) | 50% within 2-3y | Seizures ~frequent and diurnal, elementary visual hallucinations: multicoloured circular patterns may be the sole manifestation. Migrainelike | ± Fixation-off sensitivity with occipital discharges | Sudden onset of fast rhythms, fast spikes or both in occipital regions | Brain MRI desirable in case symptomatic. Consider P0LG1 if suggestion of mitochondrial disorder |
| Autosomal dominant nocturnal frontal lobe epilepsy | Mainly 8-14y | May not | From sleep, with several throughout the night (contrast night terrors, 1 or 2 at beginning of sleep) | Normal | Often normal with only ictal EMG and motion artefacts | Nocturnal video preferably with infrared recording; helpful to get night-time video of close or distant family members who may be affected; gene analysis by arrangement |
| Juvenile myoclonic epilepsy | 9-13y (5-20y) | May not | Morning myoclonus, clumsiness, generalized tonic-clonic and clonic-tonic-clonic seizures especially when sleep deprived. In childhood, short absences may precede onset of myoclonus and tonic-clonic seizures | Irregular spike and polyspike wave bursts | 4-6/s polyspike and wave. Absences may have multiple spikes per wave, often <10s, shorter than in CAE | Investigations generally unhelpful (if regression, consider progressive myoclonus epilepsies ) |
| Mesial temporal lobe epilepsy with | 4-16y | Mostly only if surgical | Ascending epigastric aura may be fear or panic, deja vu, | Spike and slow | Subtle onset with focal | High quality brain MRI targeted to show hippocampi |
| hippocampal sclerosis | resection | dreamy state, oro-elementary automatisms, etc. | complexes in ipsilateral anterior temporal region | crescendo theta | ||
Source:
Mary D. King, 2009. A Handbook of Neurological Investigations in Children. 1 Edition. Mac Keith Press.
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