Product of amino acid metabolism.
In developmental delay, an abnormally high or low result is significant viz:
High urate levels can also be risk factor for urolithiasis (stones in urinary tract)
Present with hydrocephalus or else cardiac failure in neonatal period. Clue is that heart is structurally normal!
Life time risk of haemorrhage is high, presenting with headache or seizure. Annual rate about 6%. Focal neuro signs rare prior to haemorrhage! Risk slightly higher in deep locations eg basal ganglia.
Once haemorrhage has occurred, risk of further haemorrhage increases significantly. Microsurgery, radiosurgery or embolization techniques used alone or in combination.
Sphingomyelinase (lysosome) disorder. Type B has only visceral involvement, can survive into adulthood. More common in Ashkenazi Jews.
Typically develop symptoms at around 6 months. Can be prolonged jaundice as baby, else abdominal distension (hepatosplenomegaly), growth failure, hypotonia, failure to meet milestones.
Death usually around 3yrs, recurrent lung infections, interstitial lung disease. Spasticity develops later.
Cherry red spot seen on fundoscopy in macula, possibly not in early stages.
Seizures, fits, funny turns, convulsions, attacks… None of these really has a medical meaning. Convulsion suggests rhythmic motor activity, but that’s about it. The implication of most of these is that there is excessive abnormal, involuntary muscle contraction, usually bilateral. But more broadly, some involuntary, usually sudden and self terminating episode of abnormal (or at least non-purposeful) activity and/or impaired awareness. Can be sustained or interrupted.
Nottingham RCPCH approved guideline distinguishes:
Most commonly Febrile convulsions ie age related, benign. Beware complex (multiple seizures in same illness, focal features, prolonged >15 mins) and any abnormal findings eg neck stiffness, bulging fontanelle, prolonged illness, abnormal cognition before/after.
Important differentials are:
May represent first evidence of epilepsy.
Horner’s syndrome = small pupil, ipsilateral ptosis +/- reduced sweating. Compare Holmes Adie pupil.
Anhidrosis localizes lesion to preganglionic branch.
Turn down the lights to make it more obvious! Look for associated Klumpke’s.
In babies usually congenital or related to birth trauma, rarely it can be due to:
Other cranial nerve involvement clearly points to brainstem problem.
[British Journal of Ophthalmology 1998;82:51-54. ]
Caused (mostly) by absence of maternal contribution to a region of the 15q chromosome. Paternal uniparental disomy is one way this can happen, although mostly there is de novo maternal deletion. The same region is also responsible for Beckwith-Wiedemann syndrome, but this syndrome is the result of a paternal deletion.
Characteristically “happy puppet” –
[https://www.omim.org/clinicalSynopsis/105830]
Definition is sudden unexpected death with or without seizures, after exclusion of status epilepticus, where PM does not identify another cause. Cases almost exclusively in symptomatic epilepsy.
SPEN response to determination of Sheriff Duff (that SUDEP should be discussed with all patients with epilepsy) –
Berg AT, Shinnar S, Testa FM, Levy SR, Smith SN, Beckerman B. Mortality in childhood-onset epilepsy. Arch Pediatr Adolesc Med. 2004 Dec;158(12):1147-52.
Camfield CS, Camfield PR, Veuglers PJ: Death in children with epilepsy: a population-based study. Lancet 2002;359:1891-1895
Weber P, Bubl R, Blauenstein U, Tillmann BU, Lütschg J. Sudden unexplained death in children with epilepsy: a cohort study with an eighteen-year follow-up. Acta Paediatr. 2005 May;94(5):564-7.
In UK, driving is forbidden after a single epileptic seizure. If seizure happens after age of 5, permanent ban on driving HGV, passenger service vehicles, racing.
Reinstatement of license depends on seizure free period, and whether seizures have occurred only during sleep or not. You can reapply if you haven’t had an attack for at least a year. If you had a seizure because your doctor changed or reduced your anti-epilepsy medicine, you can reapply when:
If your seizures have only been during sleep, you need at least 12 months seizure free. If seizures have been when awake as well as in sleep, then must have been 3 years with only seizures in sleep.
If however generalized spike and wave activity on EEG, then reinstatement cannot occur. DVLA seem to retain the right to decide on individual basis.
SUDEP (sudden unexpected death in epilepsy) should be discussed at or around the time of diagnosis. There is a tendency for professionals to avoid talking about it. Evidence from review of cases is that deteriorating seizure control in preceding 3-6 months common, as is lack of regular clinic review.
Discuss safety esp bathing, swimming, cycling.
There are numerous devices and tools available. Unfortunately, no single type of monitor (movement, breathing, ECG, EEG) likely to be sensitive. But important to have balanced approach – consider risk of events, likelihood of false alarms, and the fact that no device can guarantee that SUDEP will not occur.
The best way to prevent SUDEP is to stop seizures occurring in the first place!
EpSMon is a patient app.
Another useful source of objective information is the latest Cochrane Review on SUDEP interventions.
Other things to consider:
In a UK review of epilepsy deaths. 15% related to status epilepticus, 15% SUDEP. Majority due to co-existing morbidities. 24% considered preventable, usually related to fragmentation of care, support for families in responding to emergencies, and hospital response to acutely unwell child (incl status). [BPS poster]
Women taking anticonvulsants and oral contraceptives have 25 times the risk of pill failure as normally expected, due to action of some anticonvulsants (eg phenytoin, phenobarbitone, primidone, carbamazepine, and ethosuximide) on the hepatic microsomal enzyme system, resulting in a dramatic decrease of circulating oestrogens. Discuss with pharmacist, as complicated!
Contraception also important if potential teratogenic effect esp valproate.
ICD-10 defines autism spectrum disorder as
Sensory behaviour may be meltdown or withdrawal or other challenging behaviour when too much information or sensation is experienced. There can be hyper (or hypo) sensitivity to lighting, problems with depth perception, noises or crowds, smells (or licking), pain, taste/textures.
SIGN guidance is that (145):
Assessment
Types
ARCH, REACH and National Autistic Society
Where children present with abnormal movements, consider:
Stereotypies are repetitive non-functional movements, typically hand flapping or twisting, body rocking, head banging/nodding, grimacing, arm flapping. As with tics, there is often a family history, and there is an association with obsessive compulsive tendencies.
They can be present in children with normal development, but are a feature of neurological disorders especially autism spectrum disorder and sensory impairment. In these children, the movements are part of a period of introspective absorption, they make prefer such activity to conventional social interactions.
There are a number of differences from tics, although they can co-exist:
Excitement and stress are triggers for both. Over time, the child usually becomes aware of social disapproval and may suppress the behaviour except in secret!
[Ulster Med J 2014;83(1):22-30]