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.
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:
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.
Levetiracetam or Lamotrigine first line, the former (Keppra) can be loaded more quickly though.
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.
Previously Severe myoclonic epilepsy of infancy. Charlotte Dravet described in 70s. Characterised by:
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.
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:
Any lesion in the vicinity of the pituitary may also cause raised prolactin so not specific.
High levels can also be due to presence of “macroprolactin“, antibody complex polymers without biological action – usually less than 30% of the total – lab can check and give true monomeric value.
Thought to be congenital but often only picked up in adulthood when symptoms develop.
Type 1 most common, where cerebellar tonsils protrude into spinal canal, potentially putting pressure on brainstem, spinal cord and cause obstruction to flow of cerebrospinal fluid.
Can be found incidentally. Symptoms however include:
Can be complicated by upper spinal syringomyelia.
Rarely familial.
Alpha-galactosidase defect, one of the lysosomal storage disorders, with accumulation in various tissues.
X-linked but females get disease, so not correct to call them carriers.
Classically, “pain attacks”, affecting the extremities. In the abdomen, can mimic appendicitis. Due to accumulation in nerves. Since nothing to really see on examination, easily misdiagnosed as functional.
Other features:
[Omim]
Amino acid homocysteine is converted to methionine (“remethylated”) – cobalamin is involved in some of these processes, folate metabolism also important.
Various disorders.
Variety of presentations, at different ages:
Start intramuscular B12 (hydroxocobalamin) as soon as samples collected, to prevent end organ damage.
Betaine should be started if high homocysteine with low methionine found, helps push conversion to methionine.
Autosomal recessive condition of high homocysteine in blood and urine, causing similar neurological problems, thrombosis, Marfanoid appearance, downward subluxing lenses.
Needs low methionine diet. Betaine supplements help.
= scarring in hippocampal area of temporal lobe. Commonly found on MRI in focal epilepsy (although focal EEG changes not always indicative of MRI abnormality, and other MRI lesions can account for temporal lobe epilepsy).
Often a history of febrile convulsions but unclear which comes first. Brain injury in early years from viral encephalitis or other cause often explains it.
Adjacent to language areas (assuming same side as language areas, which are usually on the left side in people who are right handed, but can be either side in people who are left handed) so seizures may affect speech. Also close to memory area so may not remember afterwards.
In people with drug resistant temporal lobe epilepsy, surgery can be useful.
Well recognised condition where regular long term use of pain killers eg paracetamol leads to chronic headaches. Tends to be dull, particularly in the morning. And you might still get your migraine on top!
Of course, might be difficult to differentiate from chronic daily migraine (defined as more than 15 days in a month) or other headache that is not well controlled! It appears the majority of those with chronic migraine do not take or are not offered appropriate preventive medication.
To exclude, always have a day free of analgesia (including triptans) after any day where it has been used, and use a maximum of 3 days per week [Dr Abu-Arafeh’s advice] or else maximum 10 days per month.