2 main groups – monoamine and GABA disorders.
Oculogyric crisis is characteristic! Can be mistaken for seizure.
So epilepsy with poor response to drugs and normal EEG?
Cerebral palsy with progression?
Category Archives: Neurology
Stroke in children
Rare but happens.
Differential:
- ?brachial plexus injury,
- Todd’s paralysis,
- migraine,
- “alternating hemiplegia of childhood” (developmental regression)
Can be due to arterial or venous occlusion. 50:50 in kids cf adults (80% infarct). Haemorrhagic can be due to rupture into infarct.
Presents with focal signs, headache, seizures most commonly. Else dysphasia, vomiting!, confusion. Fever! Acute signs often lacking or fluctuant cf history! FAST criteria only 78% sensitive.
NIH stroke severity scale has paeds version.
Risk factors
Black/Asian
Cardiac (esp surgery, right to left shunt)
Sickle cell – esp anaemia, acute chest syndrome, HbS or HbS/Beta thal
Liver/kidney disease (secondary prothrombotic tendency)
VZV within 1yr, enteroviruses, HIV.
Vasculitis – Moya Moya (peaks at 5-9yr else adulthood), SLE, other
Cocaine, glue.
Marfans, homocysteinuria, Fabry’s disease, Neurofibromatosis
Cancer, radiotherapy
Hypoglycaemia.
Management
High flow O2, 10ml/kg saline
Imaging within 1hr.
BP – avoid high and low? Cf adults
Monitor for RICP
Treat with aspirin.
Tests
- CTA/MRA at time of CT/MRI
- Echo
- (Transcranial doppler in sickle cell- via temporal bony window)
- Hbopathy screen
- Cholesterol
- Lupus anticoagulant, Anti cardiolipin ab (ACLA), consider beta 2GP1
- Homocysteine
- Alpha galactosidase
- Lipoprotein A – a kind of LDL but induces vascular inflammation, so a marker for CVS disease
Hypokalaemia
Could be reduced intake but usually excessive losses –
| Renal | Non-renal |
| Renal tubular acidosis (type 1 or 2) | Vomiting eg pyloric stenosis |
| Bartters or Gitelmans syndrome | Diarrhoea |
| Diuretics | Laxative overuse |
| Hyperaldosteronism (CAH, tumour) | Thyrotoxicosis |
| Salbutamol | |
| Familial periodic paralysis | |
| Pseudo-Bartter’s | |
| Trauma | |
| Diabetic ketoacidosis |
Symptoms depend on severity and how rapidly decrease has happened. Chronic low levels are better tolerated. Since potassium important for membrane potentials, effects are mostly neuromuscular.
- Cramps, weakness, paralysis
- Ileus
- Metabolic acidosis (although underlying cause often produces alkalosis)
- Arrhythmia, heart failure
- Rhabdomyolysis
ECG classically shows U waves, T wave flattening, and ST-segment changes. Can be tall wide P waves, can look like long QT if T and U waves merge.
Do urine and blood electrolytes to look at fractional excretion.
[Endocrine connections 2018][Current Treatment Options in Peds 2022]Benign neonatal sleep myoclonus
Not a great name, as it can persist for up to 6 months!
Large muscle groups, usually limbs but can be face. Can wax and wane with child remaining sleep. Usually bursts lasting seconds, up to a few minutes.
During sleep only, and stops when wakes.
Differential would be myoclonic epilepsy, startle (including hyperekplexia), jitters.
Dancing Eye syndrome
or Opsoclonus Myoclonus Syndrome, which is a much less suggestive name, and not only a partially correct description!
Features:
- myoclonus
- rapid involuntary eye movements in all directions (opsoclonus)
But also
- ataxia
- marked irritability, sleep disturbance.
Typically in young children, under 3. About half will have neuroblastoma. The rest assumed to be autoimmune.
Rett Syndrome
Exclusively females (lethal in males? Or rate of germ cell mutations higher in male germ cells?). Virtually always sporadic – so not exactly X linked dominant.
MECP2 gene on X chromosome.
Developmental arrest at 6-18 months, then regression, loss of speech, stereotypies esp hands.
Often epilepsy, then complications of severe neurodisability eg chronic lung issues.
Not degenerative however – can live into middle life.
Focal epilepsy
As opposed to generalized epilepsy. Potentially associated with a brain lesion (congenital or acquired), but not always. EEG will usually confirm.
Associated with prolonged or focal febrile convulsion – chicken or egg?
See:
Temporal lobe epilepsy
The most common focal epilepsy. Sense of déjà vu, phantom smells, panic attacks as possible aura symptoms! Talking gibberish, lip smacking, staring, posturing are more obvious.
Treatment
Levetiracetam or Lamotrigine first line, the former (Keppra) can be loaded more quickly though.
Honey in medicine
Contains a range of different sugars, aromatic oils, also pollens and bee proteins. Royal jelly and beeswax related, of course.
High fructose content can cause GI intolerance in some.
Allergic reactions can happen, often unrecognised, mostly due to specific pollens (depending on what flowers the bees feed on), in minority to bee proteins. Commercial honey tends to contain v low amounts of pollen, due to production techniques. IgE test for honey is available, but you may need to skin prick test with the specific honey if negative.
Honey eaten all year round is rumoured to prevent hay fever symptoms because of the pollens it contains, but this has not been proven, although it’s a nice idea related to immunotherapy. Depends on getting the right pollens of course – bees don’t like grass and birch flowers, probably. In some it may just trigger allergy symptoms.
Cross reaction between honey and bee venom is reported, not surprisingly, but not automatic.
Plant toxins can be present in sufficient quantities in honey to cause poisoning eg rhododendrons (some species).
Botulism reported in infants – failure to thrive, hypotonia, cranial nerve palsies. Clostridium and other bacteria cannot grow in honey due to the high sugar content, but spores can be present. So advice is not to give honey to infants.
Dravet syndrome
Previously Severe myoclonic epilepsy of infancy. Charlotte Dravet described in 70s. Characterised by:
- Refractory epilepsy
- Onset in infancy
- Associated neurodevelopmental problems
Due to defect in SCN1A gene on chromosome 2q24 (a sodium channel), usually de novo. Many mutations, don’t predict severity, unfortunately.
Accounts for about 7% of epilepsy presenting in first 3 years of life.
Onset around 5-8 months, often with febrile illness so can look like typical febrile convulsion. But often prolonged. Neurodevelopmental problems come later…
Later though, multiple seizure types. Hypotonia, ataxia, spasticity all seen. Dysautomnia can be a feature. ADHD and autistic traits common later.
EEG can be normal, or vary over time, with multifocal or generalised changes, photosensitivity too.
Prolactin
Secreted from the anterior pituitary (along with growth hormone, ADH, ACTH, TSH, FSH/LH), but also a stress hormone (can be used to distinguish pseudo seizures from epileptic seizures). So can go up to 1000 in healthy people. Always worth repeating a high result at least 24hrs hours later, after a 20 minute rest.
Important because of prolactinomas, which can cause:
- gynaecomastia
- galactorrhoea
- delayed puberty
- space occupying lesion effects – headaches, visual field defects
Any lesion in the vicinity of the pituitary may also cause raised prolactin so not specific.
In children, high levels can be due to presence of macroprotein isoforms, which are not considered pathological – lab can check.