This document provides an overview of several neonatal epilepsy syndromes:
1) Self-limited neonatal epilepsy is characterized by focal tonic seizures in the first weeks that resolve by 6 months, caused by genes KCNQ2 and KCNQ3.
2) Early infantile developmental and epileptic encephalopathy includes Ohtahara syndrome and early myoclonic encephalopathy, presenting with severe, intractable seizures in the first months associated with developmental impairment.
3) Pyridoxine-dependent and pyridoxamine 5'-phosphate oxidase deficiency developmental and epileptic encephalopathy cause seizures beginning prenatally or at birth responsive to pyridoxine/pyridoxamine
This presentation describes the indications, contraindications, methods of performing spirometry. It explains the interpretation of spirometry with examples.
A summary for learning the muscles of the lower limb including their attachments, innervation, etc., without having to have too many books open. Resources: "Gray’s Anatomy", "Taschenatlas der Anatomie" and Wikipedia. Awaiting further proof-reading!
elbow joint , type of joint, articular surface of elbow joint, joint capsule of elbow joint, articulating bones of elbow joint, cubital articulation, ligaments of the elbow joint, medial collateral ligament, lateral collateral ligament, relation of elbow joint, action of elbow joint, blood supply and nerve supply of elbow joint, dislocation of elbow joint, carrying angle, cubital varus, cubital vulgus, subluxation of head of radius, tennis elbow, students or minors elbow,
It contains description and salient points to diagnose various epileptic encephalopathies seen during infancy such as early myoclonic encephalopathies, Otahara syndrome, Dravet syndrome, West syndrome.
This presentation describes the indications, contraindications, methods of performing spirometry. It explains the interpretation of spirometry with examples.
A summary for learning the muscles of the lower limb including their attachments, innervation, etc., without having to have too many books open. Resources: "Gray’s Anatomy", "Taschenatlas der Anatomie" and Wikipedia. Awaiting further proof-reading!
elbow joint , type of joint, articular surface of elbow joint, joint capsule of elbow joint, articulating bones of elbow joint, cubital articulation, ligaments of the elbow joint, medial collateral ligament, lateral collateral ligament, relation of elbow joint, action of elbow joint, blood supply and nerve supply of elbow joint, dislocation of elbow joint, carrying angle, cubital varus, cubital vulgus, subluxation of head of radius, tennis elbow, students or minors elbow,
It contains description and salient points to diagnose various epileptic encephalopathies seen during infancy such as early myoclonic encephalopathies, Otahara syndrome, Dravet syndrome, West syndrome.
Defecation
Normal defecation begins with movement in the left colon, moving stool toward the anus. When stool reaches the rectum, the distention causes relaxation of the internal sphincter and an awareness of the need to defecate. At the time of defecation, the external sphincter relaxes, and abdominal muscles contract, increasing intrarectal pressure and forcing the stool out
The Valsalva maneuver exerts pressure to expel faeces through a voluntary contraction of the abdominal muscles while maintaining forced expiration against a closed airway. Patients with cardiovascular disease, glaucoma, increased intracranial pressure, or a new surgical wound are at greater risk for cardiac dysrhythmias and elevated blood pressure with the Valsalva maneuver and need to avoid straining to pass the stool.
Normal defecation is painless, resulting in passage of soft, formed stool
CONSTIPATION
Constipation is a symptom, not a disease. Improper diet, reduced fluid intake, lack of exercise, and certain medications can cause constipation. For example, patients receiving opiates for pain after surgery often require a stool softener or laxative to prevent constipation. The signs of constipation include infrequent bowel movements (less than every 3 days), difficulty passing stools, excessive straining, inability to defecate at will, and hard feaces
IMPACTION
Fecal impaction results from unrelieved constipation. It is a collection of hardened feces wedged in the rectum that a person cannot expel. In cases of severe impaction the mass extends up into the sigmoid colon.
DIARRHEA
Diarrhea is an increase in the number of stools and the passage of liquid, unformed feces. It is associated with disorders affecting digestion, absorption, and secretion in the GI tract. Intestinal contents pass through the small and large intestine too quickly to allow for the usual absorption of fluid and nutrients. Irritation within the colon results in increased mucus secretion. As a result, feces become watery, and the patient is unable to control the urge to defecate. Normally an anal bag is safe and effective in long-term treatment of patients with fecal incontinence at home, in hospice, or in the hospital. Fecal incontinence is expensive and a potentially dangerous condition in terms of contamination and risk of skin ulceration
HEMORRHOIDS
Hemorrhoids are dilated, engorged veins in the lining of the rectum. They are either external or internal.
FLATULENCE
As gas accumulates in the lumen of the intestines, the bowel wall stretches and distends (flatulence). It is a common cause of abdominal fullness, pain, and cramping. Normally intestinal gas escapes through the mouth (belching) or the anus (passing of flatus)
FECAL INCONTINENCE
Fecal incontinence is the inability to control passage of feces and gas from the anus. Incontinence harms a patient’s body image
PREPARATION AND GIVING OF LAXATIVESACCORDING TO POTTER AND PERRY,
An enema is the instillation of a solution into the rectum and sig
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Overview of neonatal epilepsy syndromes.pptx
1. OVERVIEW OF NEONATAL EPILEPSY
SYNDROMES
PRESENTER: DR. OLIELO
FEACILITATOR: DR. OYIEKE
2. SELF-LIMITED (FAMILIAL) NEONATAL EPILEPSY (SELNE)
Incidence of 5.3 per 100,000 live births
characterized as a channelopathy, caused in
most cases by pathogenic variants in
voltage-gated potassium channel genes
KCNQ2 and KCNQ3
Inheritance :autosomal dominant pattern
15 percent of those who carry a variant may
not have recognized seizures
3. SELF-LIMITED (FAMILIAL) NEONATAL EPILEPSY (SELNE)
Clinical features
Seizures occur within the first seven days of life, 90% between days 4
and 6, and resolve within six weeks to six months. Some can occur as
late as 3 months
The incidence is similar for males and females.
Focal tonic, involving the head, face, and limbs
Focal clonic seizures may also occur
Clusters: frequent as 20–30 per day.
4. SELF-LIMITED (FAMILIAL) NEONATAL EPILEPSY (SELNE)
Evaluation and diagnosis –
Diagnosis of exclusion
Diagnostic criteria for SeLNE require focal tonic seizures at onset and a
nonlesional brain MRI in an infant delivered after a normal pregnancy
and labor.
The ictal EEG is not distinctive from other electrical or electroclinical
seizure types.
The interictal EEG background may be normal or mildly abnormal burst
suppression multifocal sharp waves.
Neuroimaging is mandatory
Where available, genetic testing should confirm a pathogenic variant in
KCNQ2 or KCNQ3
5. SELF-LIMITED (FAMILIAL) NEONATAL EPILEPSY (SELNE)
Benzodiazepine, Valproate Carbamazepine or oxcarbazepine can be
effective treatments
Antiseizure medications can often be stopped once the infant is beyond
the usual six-week period of recurrence risk.
6. SELF-LIMITED (FAMILIAL) NEONATAL EPILEPSY (SELNE)
Clinical course and outcomes:
Seizures abate by age six months, typically by age six weeks.
(68% during the first 6 weeks. However, 10–14% may later develop other
types of febrile (5%) or afebrile seizures. Idiopathic generalised seizures
are more common. There have also been accounts of SeLECTS.
Development is typically normal.
Prevalence of mental disability and learning disability is reported to be
approximately 2.5%
7. SELF-LIMITED FAMILIAL NEONATAL-INFANTILE EPILEPSY
(SeLFNIE)
The seizures typically occur within day 1 to 21 months: with a mean
onset at 11 weeks (median 13 weeks).
Inherited in an autosomal dominant pattern and is caused by
pathogenic variants in the SCN2A gene
Rare cases are associated with pathogenic variants of the KCNQ2 gene
8. SELF-LIMITED FAMILIAL NEONATAL-INFANTILE EPILEPSY
(SELFNIE)
Clinical features – SeLFNIE is characterized by focal tonic or focal clonic
seizures, a family history of neonatal seizures, and no other neurologic
abnormalities
(normal physical examination and neuroimaging are required).
At onset, seizures are focal tonic with head and eye deviation.
Seizures may last from 20 seconds to 4 minutes, but often occur in
clusters
The interictal EEG is typically normal. EEG slowing or focal discharges in
central and posterior regions may be seen during periods of active
seizures
9. SELF-LIMITED FAMILIAL NEONATAL-INFANTILE EPILEPSY
(SeLFNIE)
Treatment
Carbamazepine is considered a first-line
Clinical course and outcomes –
Seizure frequency is variable
seizures cease by 12 to 24 months and do not recur later in life
10. EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC
ENCEPHALOPATHY (EIDEE)
incidence of 10 per 100,000 live births
EIDEE is characterized by early onset, frequent seizures, abnormal
neurologic examination, with a burst-suppression pattern, slowing, and
abundant multifocal discharges on EEG, along with developmental
impairment.
EIDEE incorporates the epilepsy syndromes classified as [6]:
•EIEE (Ohtahara syndrome)
•Early myoclonic encephalopathy (EME)
Infants with EIDEE may evolve to develop infantile epileptic spasms
syndrome (IESS), and then, in childhood, they may develop LGS
11. EARLY MYOCLONIC ENCEPHALOPATHY
Onset: first weeks of life
More than 60% start before 10 days of age and rarely
after the second month.
Boys and girls are affected equally.
• Erratic, focal, rarely generalized myoclonic and tonic
Erratic myoclonus affects the face or limbs.
It is often restricted in a finger, a toe, the eyebrows, eyelids or lips,
occurring in the same muscle group and often migrating elsewhere,
usually in an asynchronous and asymmetrical fashion.
• High incidence of consanguinity
• Sometimes IEMs
12. EARLY MYOCLONIC ENCEPHALOPATHY
Manifests with a triad of intractable seizures.
Erratic myoclonus appears first followed by simple focal seizures and
later by tonic epileptic (infantile) spasms.
There may be marked truncal hypotonia, limb hypertonia,
disconjugate eye movements, dyspnoea, or opisthotonic or
decerebrate posturing.
13. EARLY MYOCLONIC ENCEPHALOPATHY
Eitiology
Inborn errors of metabolism – most common
• Non ketotic hyperglycinemia, propionic aciduria, Methylmalonic
acidemia, D glycericacidemia, sulfite & xanthine oxidase
deficiency, Menkes disease
• Some cases- AR inheritance
• Cases with Early Myoclonic encephalopathy with suppression burst
pattern- responds to pyridoxine
16. EARLY MYOCLONIC ENCEPHALOPATHY
Investigations & Prognosis
• MRI Brain OFTEN NORMAL : BUT CAN show periventricular/ cortical
atrophy/ asymmetrical ventricular enlargement
A thorough metabolic screening is mandatory.
• Metabolic screening- serum levels of amino acids-glycine & glycerol
metabolites, organic acids & amino acids in CSF
• More than ½ die within weeks/months
Psychomotor development may be abnormal from the onset of
seizures or arrests and deteriorates rapidly afterwards.
• Those who survive develop severe mental deficits
17. EARLY MYOCLONIC ENCEPHALOPATHY
Treatment
• No effective treatment
• ACTH and AED are of no benefit
• NKHG- Reduction in dietary protein and sodium benzoate -120mg/kg
• Trial with pyridoxine should be done
18. EIEE:
• Onset in the first weeks of life (around the first 10 days of life,
sometimes within the uterus or up to 3 months after birth)
• Characteristic repetitive ‘tonic spasms’ - focal or generalized
• Commonly associated with structural brain abnormalities
• EEG burst suppression pattern, > in sleep, evolves to hypsarrythmia
• Intractable to AEDs
• Neurological outcome is very poor, early death
• Evolves to WS, LGS
19. EIEE:
Etiology
• Malformation of cortical development- Hemimegalencephaly,
porencephaly, Aicardi syndrome, agenesis of mamillary bodies, FCD
• Metabolic cause – rare
• No familial cases
• Neuropathology- most severe in Ohtahara
• EEG – Burst suppression pattern -pseudorhythmicity
20. EIEE: OHTAHARA SYNDROME
Treatment
• No effective treatment
• ACTH and AED are generally not effective
• Case reports show response to zonisamide & vigabatrin
• Neurosurgery- FCD
22. EIEE
Half the patients die within weeks or months of onset and the
others soon develop permanent severe mental and neurological
deficits.
In survivors, the clinical and EEG patterns change to those of
West syndrome within a few months of onset and may also change
to those of LGS if patients reach the age of 2 or 3 years.
23. EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC
ENCEPHALOPATHY (EIDEE)
Ohtahara syndrome Early myoclonic encephalopathy
Tonic spasms Erratic myoclonus, focal seizures, cluster spasms
Malformation of Cortical development Genetic and metabolic
Suppression burst both sleep and awake Accentuated by sleep
Burst Longer • Shorter
Suppression Shorter • Longer
Transformation to WS as a RULE • Common but transient
24. KCNQ2-DEE
In contrast to self-limited familial neonatal epilepsy, some individuals
with de novo missense KCNQ2 pathogenic variants develop KCNQ2-DEE.
Infants with KCNQ2-DEE present in the first week of life with an
abnormal neurologic examination (encephalopathy, hypotonia, and lack
of visual attentiveness) and severe, treatment-resistant
25. KCNQ2-DEE
Clinical features – Seizures typically begin in the first days of life in an
infant with encephalopathy and an abnormal neurologic examination.
The seizures often have a tonic semiology, myoclonic and/or focal
seizures are also seen.
Neonates with gain of function KCNQ2 variants may have prominent
nonepileptic startle-like myoclonus, in addition to encephalopathy and
severely abnormal interictal EEG background patterns.
26. KCNQ2-DEE
Evaluation and diagnosis – The interictal EEG can have abundant
multifocal negative sharp waves and/or can meet criteria for burst
suppression.
Brain MRI may reveal subtle abnormalities (T1 and T2 hyperintensity) in
the basal ganglia and thalami that can resolve after the neonatal period
No other specific imaging abnormalities are reported.
Genetic testing for KCNQ2 pathogenic variants is necessary to confirm
the diagnosis.
27. KCNQ2-DEE
●Treatment – While seizures are resistant to treatment, limited data
suggest that patients with KCNQ2 pathogenic variants may respond best
to antiseizure medications that act on sodium channels (eg,
oxcarbazepine, carbamazepine, or phenytoin)
●Clinical course and prognosis – The seizures resolve within a few
months to years in over half of patients, but affected children typically
have moderate to severe global neurodevelopmental disabilities
28. PD-DEE AND P5PD-DEE
●Pyridoxine-dependent (ALDH7A1) developmental and epileptic
encephalopathy (PD-DEE) and the related disorder, pyridoxamine 5'-
phosphate oxidase deficiency (PNPO) developmental and epileptic
encephalopathy (P5PD-DEE)
Clinical features – Most develop seizures in-utero or shortly after birth
and have co-occurring encephalopathy.
A later presentation, typically in the first three years of life, is seen in up
to one-quarter of patients, with rare patients presenting in adolescence.
Seizure types are variable: multifocal myoclonus, focal seizures, epileptic
spasms, and generalized tonic-clonic seizures.
29. PD-DEE AND P5PD-DEE
●Evaluation and diagnosis –
EEG: a burst-suppression pattern and abundant multifocal epileptiform
discharges.
Brain MRI may be normal or show white matter edema in the setting of
severe encephalopathy
Metabolic testing should not delay treatment, but biochemical
evaluation with measurement of urine and plasma alpha-aminoadipic
semialdehyde (alpha-AASA) and/or plasma pipecolic acid can aid the
diagnosis.
Genetic testing is useful to detect pathogenic variants in the ALDH7A1
or PLPB genes in PD-DEE, or the PNPO gene in P5PD-DEE.
30. PD-DEE AND P5PD-DEE
Treatment –
Seizures respond rapidly to treatment with pyridoxine and pyridoxal-5'-
phosphate. Trials of pyridoxine (100 mg IV injections, repeated every 5 to
15 min (max of 500 mg) with continuous EEG monitoring, or 15 to 30
mg/kg per day orally in three divided doses.
If there is no response to pyridoxine or PLP, leucovorin (2.5 mg IV) may
be administered. Unresponsiive to AED
Early initiation of a lysine-restricted diet may result in improved long-
term outcomes; L-arginine therapy is also a component of therapy for
this syndrome
Clinical course and prognosis – Patients can have a normal
neurodevelopmental outcome with early, appropriate treatment, but
many will experience neurodevelopmental delays.
31. QUESTION 1
(A) GABRG2 gene
(B) CHRNA4 gene
(C) SCN1A gene
(D) KCNQ3 gene
(E) LGI1 gene
A 5-day-old boy presents with clonic activity
of the arms. Complete blood count, basic
metabolic panel, blood cultures, and CSF
analysis are all normal. Lumbar puncture and
results are likewise normal. Magnetic
resonance imaging (MRI) of the brain is
performed and is also normal. On further
history, it is revealed that his father had similar
episodes when he was less than 1 week old
that spontaneously resolved before the age of
6 months. Genetic workup on the infant is
most likely to reveal a mutation within the
32. QUESTION 2
Epileptic encephalopathy with suppression
bursts is characterized by
(A) paroxysmal choreoathetosis
(B) paroxysmal polyspikes lasting several
seconds alternating with episodes of low-
amplitude tracing
(C) a spike followed by a bell-shaped slow
wave
(D) a favorable prognosis
(E) mutation in voltage-gated sodium
channels
Editor's Notes
Terminology – SeLNE was previously known by several terms, including:
•Benign familial neonatal epilepsy
•Benign neonatal convulsions
•Benign idiopathic neonatal seizures
•"Fifth-day fits" (because of their peak day of onset)
These seizures occur in term or late preterm infants after an uneventful pregnancy, labor, and delivery, with no family history of seizures (in the case of the nonfamilial form), and with normal neurologic examinations between seizures.
Seizures may alternate sides, and may progress to bilateral tonic seizures but do not have generalized/bilateral features at onset; associated apnea has sometimes been reported
, since the initial clinical presentation may mimic that of infants with acute provoked seizures.
The infant's head circumference and neurologic examination must be normal, and causes of acute provoked seizures must be excluded.
lack of variants in these genes suggests a different diagnosis is more likely.
The therapy for SeLNE is similar to that for other neonatal seizures, with antiseizure medications acutely administered
, and those with higher neonatal seizure burden appear to be the most likely to have persistent epilepsy [6,22].
SeLFNIE has also been known as benign familial neonatal-infantile seizures.
Ohtahara syndrome and EME have considerable overlap in clinical features and etiologies
Early myoclonic encephalopathy (EME) is a dreadful but fortunately rare epileptic encephalopathy of the first days and weeks of life p/w frequent
myoclonias and focal seizures, and burst-suppression in the EEG.
seizuresErratic or fragmentary myoclonus is the defining seizure type that may
sometimes appear immediately after birth.
Simple focal seizures, often clinically inconspicuous, manifest
with eye deviation or autonomic symptoms such as flushing of
the face or apnoea.
Tonic seizures occur frequently and usually appear in the first
month of life. They manifest with truncal tonic contraction, which
usually also involves the limbs. They occur during wakefulness
and sleep.
Genuine tonic epileptic spasms are rare and generally
appear later.
Early myoclonic encephalopathy (EME) is a dreadful but fortunately rare epileptic encephalopathy of the first days and weeks of life p/w frequent
myoclonias and focal seizures, and burst-suppression in the EEG.
seizuresErratic or fragmentary myoclonus is the defining seizure type that may
sometimes appear immediately after birth.
Simple focal seizures, often clinically inconspicuous, manifest
with eye deviation or autonomic symptoms such as flushing of
the face or apnoea.
Tonic seizures occur frequently and usually appear in the first
month of life. They manifest with truncal tonic contraction, which
usually also involves the limbs. They occur during wakefulness
and sleep.
Genuine tonic epileptic spasms are rare and generally
appear later.
Inter-ictal EEG consists of a repetitive burst suppression pattern without physiological rhythms.
The bursts of high-amplitude spikes and sharp-and-slow waveslast for 1–5 s and alternate with periods of a flat or almost flat
EEG, lasting 3–10 s.
In most cases the burst-suppression pattern becomes more apparent during deep sleep and may not occur in the EEG of
wakefulness.
Awake EEG showing mutifocal spikes in the disorganized background activity (EME)
They may be generalised and symmetrical or lateralised.
They occur in both the awake and sleep stages.
Less often, a third of the neonates may have erratic focal motor clonic
seizures or hemiconvulsions.
Erratic myoclonias are not featured.
Metabolic screening is mandatory if brain imaging is normal.
The EEG burst-suppression pattern has a pseudorhythmic
periodicity, is continuous during wakefulness and sleep, appears
at the onset of the disease and disappears within the first 6 months of
life.
The bursts consist of high-amplitude slow waves mixed with spikes
lasting for 2–6 s.
The suppression period of a flat or almost-flat EEG lasts for 3–5 s.
The interval between the onsets of two successive bursts is in the
range of 5–10 s.
Some infants with KCNQ2-DEE present with what previously was termed Ohtahara syndrome
Some infants with KCNQ2-DEE present with what previously was termed Ohtahara syndrome
Some infants with KCNQ2-DEE present with what previously was termed Ohtahara syndrome
Some infants with KCNQ2-DEE present with what previously was termed Ohtahara syndrome
PD-DEE is also known as pyridoxine-dependent epilepsy.
PD-DEE is also known as pyridoxine-dependent epilepsy.
Due to the risk for cardiorespiratory collapse, the initial intravenous test doses of pyridoxine should occur in a monitored (hospital) setting
here is a risk of apnea with pyridoxine