Investigations include:
- Chiotriosidase – for lysosomal disorders eg Gauchers
- Selenium, copper, zinc – esp if retricted diet
- Lead – toxicity from environment
- Genetics
Category Archives: Neurology
Transition in Epilepsy
As with care of other chronic conditions, transition to adult services needs to be planned well ahead of turning 16. Focus and decision making should be more around the young person themselves.
Topics include:
- Understanding of own condition
- Risks and risk management
- Medication – risks of missing, side effects, how to not forget
- Peers – explaining condition or sharing diagnosis (common misunderstandings)
- Impact on independent living, career
- Impact on relationships
- Effect of alcohol/drugs
- Emotional well being, self image
Specific things for epilepsy are:
- Driving
- Contraception and pregnancy
- Seizure management plan
- Stigma
See https://www.youngepilepsy.org.uk/parents-and-carers/adolescence-and-beyond/transition-to-adult-healthcare and other patient/family support websites.
Catatonia
Reminds me of a certain 90s album, and the book “Awakenings” by Oliver Sacks, but still used to describe a dramatic presentation of neurological regression.
Classically stupor, mutism, rigidity (or “waxy flexibility”), but can also be “excited”, particularly in children, where it presents with agitation, catalepsy, sterotypies, echolalia/praxia.
Many of these features are seen in autism anyway, but could present in autism too.
Associated with psychiatric (eg schizophrenia) but also wide spectrum of medical conditions. Some of these are obviously differentials as well.
- Neurological – Anti-NMDA receptor encephalitis, MS, SLE
- Space occupying lesion
- Infection – encephalitis, cerebral malaria, HIV, syphilis, SSPE
- Medication – withdrawal, alcohol, benzodiazepines, gabapentin, Zolpidem
- Metabolic – DKA, hepatic encephalopathy, hypercalcaemia, porphyria, pellagra
- Endocrine – Addison, Cushing, hyperthyroidism, phaeochromocytoma
Management
Assessment includes full history and examination obviously, with particular consideration to possible toxins/drugs, also DVT and pressure ulcers as complications.
Rating scales available.
EEG is important to exclude non convulsive status. “Extreme delta brush” suggests anti-NMDAR encephalitis.
Benzodiazepine challenge test – usually lorazepam – can produce responsiveness. IV or IM can be used if oral administration tricky. Zolpidem has been used for challenge too.
Escalating benzodiazepine doses used for treatment. Electroconvulsive shock therapy has traditionally been used.
[J Psychopharm 2023]Muscular Dystrophy
Dystrophin is largest gene in body – prone to duplications/deletions. Large errors can be picked up quickly on testing. Point mutations (30%) take more sequencing work.
Duchenne MD is X-linked but girls can get symptoms (or develop later dilated cardiomyopathy) due to lyonisation.
Life expectancy was 18-20 yrs but now with steroids and non-invasive ventilation, 40 plus.
Different natural history trajectories identified – makes trials hard, as not comparable…
Becker muscular dystrophy is similar but less severe. Other muscular dystrophies include myotonic dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophies, and congenital muscular dystrophies. Spinal muscular atrophy related. Management of all similar.
Diagnosis
Often delayed (average 2.5 years after onset of symptoms), especially if there are developmental issues that perhaps distract from the motor delay problem (mean age 6.6 years if developmental issues, cf 4.9 years if not). Classically delayed motor milestones, frequent falls, abnormal gait, muscle pain; but sometimes speech and language delay, learning difficulty more prominent. Urine/bowel issues. Later difficulty with jumping, running, climbing steps, and rising from the floor.
Leg flexors tend to stay strong cf extensors – leads to lordosis and contractures, and classic posture where weight forward to avoid jack knifing.
Calf hypertrophy classic. Tone and reflexes reduced (cf cerebral palsy).
Gower’s sign – using hands/arms to get up from floor and to standing position
Creatine kinase levels are elevated. Diagnosis is confirmed by genetic testing.
If CK normal, then EMG and muscle biopsy required.
Treatment
Lung function should be monitored.
Steroids eg deflazacort are recommended from diagnosis. Preserves ambulation, respiratory function (delays the need for mechanical ventilation); avoids/delays scoliosis surgery; delays onset of cardiomyopathy; increased survival. Need emergency steroid plan, of course.
ACE inhibitors recommended to delay onset of cardiomyopathy.
Gene therapy difficult because of size of gene and problem of packing into vector!
Lots of trials. Givinostat approved by FDA – old drug for JIA! – HDAC inhibitor -conditional license in UK, early access programme in UK. Vamorolone is steroid, potent but less side effects eg bone/growth – now recommended by NICE (January 2025).
FDA has approved first gene therapy treatment – but have been fatalities and effect over time unclear.
Ataluren – oral – but EMA have withdrawn license due to poor efficacy.
Family Support
[Zoya Al-Haswani – Heartlands Hospital]
Neurotransmitter disorders
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?
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.
Other normal baby movements include neonatal release phenomena, including tremors (equal amplitude around fixed axis), jitters (recurrent tremor).
Reassuring if baby unbothered by it; baby in first 7 days of life; if it can be suppressed by passive flexion.
Differential would be hypoglycaemia, hypokalaemia; drug withdrawal; HIE or intracranial lesion; myoclonic epilepsy, startle (including hyperekplexia), hyperthyroidism.
[https://doi.org/10.1093/pch/13.8.680]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.