Neurology Flashcards
Most common location for spina bifida, most common type.
L3 and below 92%
Lumbosacral junction [L4] 42%
Most common type = open
- Meningoceles (bone + meninges) = 6% SB, 11% survivors
- Myelomeningocele (bones + meninges + nerves) = 94% SB, 89% survivors
Predictor of spina bifida patient achieving continence as adult?
Perineal sensation big predictor of achieving continence as an adult
Dx on this MRI?
Lissencephaly
Characterised by absence of cerebral convolutions + poorly formed sylvian fissure
(cortical thickness 10-20mm)
Sx: FTT, Microcephaly, Developmental delay , Seizure disorder
Syndromes
Miller-Dieker syndrome
Present in 15% of cases
Deletion of LIS-1 gene
Walker Warburg variant
Dx on this MRI?
Schizencephaly
Unilateral or bilateral clefts within the cerebral hemispheres due to abnormal morphogenesis
Borders of cleft surrounded by abnormal brain – microgyria
Symptoms
Bilateral: Severe ID, Seizures, Microcephaly, Spastic quadriparesis
Unilateral: Congenital hemiparesis
Dx on this MRI?
Porencephaly
- Cyst/cavity due to developmental defects/acquired- infarct/infection
- True: in sylvian fissue region, communicate with subarachnoid space/ventricular system
- Pseudo: perinatal/posttnatal, unilateral, do not communicate
- Neuronal migration- microcrphaly/abnormal gyri/ encephalocoele
Sx:
ID, seizures, quad/hemiparesis
Dx on this MRI?
Polymicrogyria
- Assoc intractable seizures
Dx on this MRI?
Heterotopia
- Assoc intractable seizures
Distinguish Type 1,2 & 3Arnold Chiari malformations, Dandy-Walker malformation
Arnold Chiari
- Type 1: Abnormal cerebellar tonsils, displaced FM
- Onset adolescence, ataxia/CN palsies/ headache
- Type 2: Displaced cerebellar vermis & tonsils, beaked midbrain, myelomeningiocoele (L/S)
- Progressive Sx in infancy
Type 3 (rare): Small posterior fossa & encephalocoele
- High mortality, ID, hypotonia
Dandy-Walker
- Dilation of 4th ventricle, cerebellar vermis hypoplasia, hydrocephalus
Dx of this MRI?
ADEM
Diagnosis:
- inflammatory or demyelinating cause
- acute or subacute onset
- multifocal areas of the CNS
The clinical presentation is polysymptomatic AND
Must include encephalopathy that may consist of one or more of the following
Behavioral change eg. irritability, lethargy
Alteration in consciousness eg. somnolence, coma
Causes of bacterial meningitis by age group
Children >2 months
Streptococcus pneumoniae
Neisseria meningitidis
Hib (unimmunized children)
Children <2 months
GBS
E. coli and other GN bacteria
Listeria monocytogenes
Immunodeficient
Pseudomonas
Staphylococcus aureus, CONS
Salmonella, Listeria
Fungal – Cryptococcus
Risk factors for developing MS with ADEM/ATM/NMOD
Optic neuritis/NMO
Rates of progression to MS in children vary from 13-46% (OVERALL = 30%)
Highest risk is within the first 2 years after diagnosis
Risk factors
Abnormal MRI brain at presentation = strongest risk for developing MS (ie. demyelination outside the visual system)
Age > 12 years
Presence of oligoclonal bands in the CSF
Idiopathic ATM = risk of MS diagnosis low
Up to 10 % in paediatric myelitis cohorts
ADEM Risk of subsequent diagnosis of multiple sclerosis is low (2-10%)
Causes of eosinophilic meningitis
Parasites
-Angiostrongylus cantonesis
-Baylisascaris procyonis
-Gnathostoma spinigerum
Bacteria
Virus
Fungus – Cocciodes
Malignancy – NHL, Hodgkin, Eosinophilic leukaemia
Drugs – ibuprofen, ciprofloxacin, intraventricular antibiotics
Others – VP shunts, hypereosinophilic syndrome
Indications for surgical drainage of CNS abscess
Neurosurgical intervention
Abscess >2.5 cm
Gas is present in the abscess
Multiloculated
Located in the posterior fossa
Fungus suspected
Common bugs in CNS abscess & ABx/duration
Streptococci (anaerobic and aerobic) – 60-70%
Staph Aureus – 10-15%
Anaerobes (Gram pos cocci, bacteriodes, fusobacterium) – 20-40%
Gram negatives (haemophilus spp, enterbactor, E.Coli, Proteus mirabilus, pseudomonas) – 20-30%
Fungi; aspergillus, Cryptococcus, candida (immunosuppressed)
Citerobacter and enterobactor (neonates)
Cefotaxime & metronidazole if neurologically stable, <2.5cm IV 4-6wks
MRI Dx?
Posterior reversible leukoencephalopathy syndrome - MRI shows increased signal intensity in the occipital lobe on T2 weighted images
Can be seen in children without hypertension
In all circumstances manifests with generalised motor seizures, headache, mental state changes, visual disturbances
EEG pattern with benign rolandic epilepsy
Large amplitude spikes or sharp waves maximal over centrotemporal region.
EEG pattern with hepatic encephalopathy
Frequent triphasic wave pattern.
EEG pattern with:
1. Low voltage waves evolving to seizures.
2. Burst supression & isoelectric pattern
- Stage 2 HIE
- Stage 3 HIE
EEG pattern with multifocal spikes and sharp wave pattern (hypsarrythmia)
Infantile spasms
Treatment relationship between valproate,carbemazepine & lamotrigine
- Lamotrigine increases concentration of Carbamazepine (increased SFx) ‘L below C, pushes up’
- Carbamazepine decreases concentration of Lamotrigine (decreased efficacy) ‘C over L, pushes down’
- Valproate increases lamotrigine concentration ‘V below L, pushes up’
EEG pattern in Landau Kleffner
Features: auditory verbal agnosia and speech regression
EEG: electrical status epilepticus in sleep (ESES).
Complications of NF & when do they develop?
- Intracranial neoplasms: Optic pathway gliomas 15% patients <6yrs
- Scoliosis- 6-10yrs 10-25% of patients
- Seizures- 2x general population
- Hypertension- adulthood
Types of CP and causes
Spastic diplegia: PV- prem, ischaemia, infection + metabolic conditions
Spastic hemiplegia- stroke, thrombophilia, infection, congenital
Spastic quadriplegia: PVL, multicystic encephalomalacia
Ataxic CP- less common
Choreathetoid- basal ganglia, asphyxia, kernicterus, mitochondrial disorders
What does the GMFCS score measure
Child’s functional capacity in the home and school settings
- movements such as sitting, walking and use of mobility devices
- current function and aide requirement in future
Most common causes of arterial ischaemic stroke in children, and territory affected.
Arteriopathy 50%
Cardiac disease/cardioembolic stroke 25%
Thrombophilia
MCA most common territory affected
Most common causes of arterial ischaemic stroke in children, and territory affected.
Arteriopathy 50%
Cardiac disease/cardioembolic stroke 25%
Thrombophilia
MCA most common territory affected
DDx stroke, and defining features
Stroke: headache, hemiplegia/focal neurology, speech disturbance, lethargy
Migraine- evolving sx, short duration, FHx, N MRI
Seizure: added symptoms- movement, Todd paresis limited- MRI N or structural abn
Infection: fever, gradual onset, meningism
Demyelination: gradual onset, multifocal symptoms, encephalopathy- MRI multifocal lesions
Hypoglycemia: related to meals
Watershed infarcts: bilat defects, hypotension/CHD/sepsis
Hypertensive encephalopathy: HTN, bilateral visual Sx, encephalopathy
Metabolic Dx: multisystem, abn biochemical Ix, delays/regression
Vestibulopathy: veftigo, imbalance, gradual
Channelopathy: symptoms not localising, syndromic
DDx stroke, and defining features
Stroke: headache, hemiplegia/focal neurology, speech disturbance, lethargy
Migraine- evolving sx, short duration, FHx, N MRI
Seizure: added symptoms- movement, Todd paresis limited- MRI N or structural abn
Infection: fever, gradual onset, meningism
Demyelination: gradual onset, multifocal symptoms, encephalopathy- MRI multifocal lesions
Hypoglycemia: related to meals
Watershed infarcts: bilat defects, hypotension/CHD/sepsis
Hypertensive encephalopathy: HTN, bilateral visual Sx, encephalopathy
Metabolic Dx: multisystem, abn biochemical Ix, delays/regression
Vestibulopathy: veftigo, imbalance, gradual
Channelopathy: symptoms not localising, syndromic
Features of hydrocephalus
- Sunsetting eyes – due to impingement of dilated suprapineal recess on the tectum
- Macrocephaly
- Bulging AF
- Dilated scalp veins
- Brisk DTRs/spasticity- disruption of C/S tracts
Drugs leading to tremor
Amphetamines
Valproate
TCAs
Caffeine
SSRIs
Degenerative diseases causing tremor
Mitochondrial diseases eg. Leigh syndrome
Wilson’s disease
Ataxia telangiectasia
Juvenile PD
SMA
Spasms Nutans
Rx for tremor
Beta blockers
Clonidine Primadone
DBS
Rx for tremor
Beta blockers
Clonidine Primadone
DBS
Rx for dystonia
? AE
? BDZ
Benztropine for neuroleptic-induced
Botox for focal dystonia
L-dopa trial – should be trialed first in case of dopamine responsive dystonia
Artane for torsion dystonia
Anticholinergic agent
May improve dystonia – particularly torsion dystonia
Side effects – urinary retention, mental confusion, blurred vision
Alcohol for torsion dystonia
Rx for dystonia
? AE
? BDZ
Benztropine for neuroleptic-induced
Botox for focal dystonia
L-dopa trial – should be trialed first in case of dopamine responsive dystonia
Artane for torsion dystonia
Anticholinergic agent
May improve dystonia – particularly torsion dystonia
Side effects – urinary retention, mental confusion, blurred vision
Alcohol for torsion dystonia
What condition is most associated with Tourettes
ADHD 50%
OCD 30%
Criteria for Tourettes disease
Multiple motor/vocal tics, most days ?1yr, <3mo tic free
Rx for Tourettes
Antidopaminergic drugs: fluphenazine/ risperidone, tetrabenazine
Alpha adrenergic agonist: clonidine
Topiramate
Botox
Habit reversal training
Pathophys of Freidrich’s Ataxia & symptoms/Rx
AR mutation in GAA triplet repeat encoding mitochondrial protein (FRATAXIN). More rpts = dysfunc. protein, accumulation of iron in mitochondria.
56-1300rpts = disease
Onset 10yrs ataxia- LL>UL, loss vib/prop
Dysarthria
N. Intelligence
Skeletal abnormalities, HOCM, DM
Rx: vit E, CoQ10
Features of opsoclonus-myoclonus. Incidence of neuroblastoma?
Infants: <2yrs, 50% will have neuroblastoma, irritability, ataxia, falling, myoclonus, tremor and drooling
Teenagers: post-infectious/idiopathic, some will have underlying teratoma
Pathophys of anti-NMDA encephalitis, features & Rx
- 2nd most common cause of encephalitis after ADEM
- F>M, >12yrs
- IgG antibodies bind to the NR1 (or less commonly NR2)
- Disinhibit excitatory pathways
- Frontal changes- psychosis/behavior change, movement disorders
- Language/autonomic instability
- 50% have prodromal headache/fever
MRI-B abnormal 35%, CSF findings- pleocytosis/Oc bands, NMDAR1 Ab in CSF most sensitive
40% have underlying teratoma
Also assoc. mycoplasma, HSV
Rx: steroids, IVIG, rituximab
Full recovery 75-80% can be slow
What features distinguish seizure from syncope
- Precipitating events, flaccid (syncope) vs stiff (seizure) when falling, tongue biting more common in seizures, post ictal confusion 2-20min in seizure, <30sec syncope
Convulsions and Incontinence does NOT distinguish
- 80% syncopal events convulse
Mutation in Dravets
> 90% SCN1A
First line AED in infantile spasms with TS?
Vigabitrin
AED to avoid in Dravets
Carbamazepine/ Na+ channel blockers
Therapies for Dravets
- Avoid triggers- hyperthermia, exercise on hot days, vaccinate/antipyretics when sick, minimise photic stimulation
1. Valproate +/- clobazam
2. Topiramate/Keppra
3. Ketogenic diet, cannabinoids, DBS/vagal nerve stim
What AEDs are contraindicated in BECTs (Rolandic epilepsy)
Carbamazepine, lamotragine, phenytoin
Best drug for absence seizures
Ethosuxamide (CCB)
Best drug for absence seizures
Ethosuxamide (CCB)
Effectiveness of non-pharmacological therapies in specific epilepsy syndromes
Surgery (if lesion): infantile spasm, focal epilepsies, Lennox-Gastaut
Ketogenic diet: infantile spasm, Dravets, Doose
Steroids: Infantile spasms, Doose, absence, BECTs, Landau-Kleffner
Vagal Nerve Stimulation: Dravet, Lennox Gastaut, partial epilepsy
What increases risk for future epilepsy in febrile convulsions
Family history of epilepsy
Any neurodevelopmental problem
Atypical febrile convulsions (prolonged or focal)
no RFs = 1%
1 RF = 2%
2 RFs = 10%
Dx on this MRI?
Dx on this MRI?
Type of mutation in Sturge Weber Syndrome
Somatic/sporadic (occurs after conception)
GNAQ gene-controls dev/func of BVs
Tx suggested in SWS
Seizure control
Stroke prophylaxis- aspirin
Cosmetic laser
Glaucoma Rx
VHL- tumors associated, relationship with retinal angiomas & cerebellar haemangioblastoma? Most common cause of death?
Tumors:
- Cerebellar haemangioblastoma
- Retinal angioma
25% of patients with cerebellar haemangioblastoma have retinal angiomas
- Cystic lesions of kidneys, pancreas, liver, epididymis
- Phaeochromocytoma
- Renal cell carcinoma most common cause of death
Screening in VHL
1yr = annual evaluation for neurological symptoms, vision problems, hearing disturbance, BP and opthal examination
5 yrs = annual metanephrines, audiology assessment every 2 years, MRI with contrast of the interval auditory canal in those with repeat ear infections
16 yrs = annual abdominal USS, MRI of the abdomen, brain and spine every 2 years
What condition does this child have? Neurodev. sequelae?
Linear Sebaceous Nevus Syndrome
- Sporadic mutation
- Feint > hyperkeratotic/yellow
- 2/3rds have neurological findings- cortical dysplasia, glial harmatoma
- Epilepsy up to 75%, ID up to 60%
What condition does this child have? Neurodev. sequelae?
IP
- IKBKG gene XLD: Functional mosaicism with X inactivation, lethal in males
4 stages of skin lesion
1. Blistering & erythema 1-18mo
2. Verrucous- lasting 2-3mo
3. Hyperpigmentation- toddler -> adulthood
4. Alopecia- early 20s
Assoc CNS:
- 30% seizures, hemiparesis, ataxia, spasticity
- Seizures
- Dev delay/ID
Dystrophic nails & dental abnormalities
What condition does this child have? Neurodev. sequelae?
PHACE
Posterior fossa abnormalities
Haemangiomas of face (large/complex)
Arterial abnormalities
Cardiac abnormalities- coarctation/carotid aneurysm/stenosis
Eye- glaucoma, cataracts, optic nerve hypoplasia
CNS assoc:
44% language delay
35% gross motor delay
8% fine motor delay
50% abnormal neurological exam
What condition does this child have? Neurodev. sequelae?
Sturge-Weber
- Somatic/sporadic mutation, GNAQ gene
- Port wine stain- unilateral, opthalmic division of trigeminal nerve (only 30% of PWS have SWS)
- Leptomeningeal angiomas
- Abnormal blood vessels of eye
CNS assoc:
- seizures/epilepsy in 75-90%, develop first year of life, TC contralateral to side of lesion, often refractory
- Stroke like episodes/hemiparesis
- Headaches
- Dev delay
What conditions is this lesion associated with?
Lisch nodule: NF1
- 90% by 21yrs
What condition is this lesion associated with?
Axilliary freckling: NF1
What condition is this lesion associated with?
Neurofibromas: NF1, NF2
What condition is this lesion associated with?
Sphenoid wing dysplasia: NF1
What condition is this lesion associated with?
Pseudoarthrosis- NF1
What condition is this lesion associated with?
Forehead plaque: TS
What condition is this lesion associated with?
Facial angiofibroma: TS
What condition is this lesion associated with?
Shagreen patch: TS
What condition is this lesion associated with?
Ash leaf macule: TS
When do each of the NF1 features appear?
At birth:
- cafe au lait (^ in size & number)
- Disfiguring plexiform neurofibromas
- Sphenoid wing dysplasia
- Pseudoarthrosis
3-5yrs:
- Inguinal freckling
- 50% Lisch nodules
- 15% Optic pathway gliomas
- Learning disability
6-13yrs
- 10-25% Scoliosis
- 5% long bone dysplasia
- ADHD
- Headaches
- Increased risk of Ca- sarcomas
Post pubertal:
- 90% Lisch nodules
- 5-13% soft tissue sarcomas, malignant transformation of plexiform > MPNSTs
- HTN
Most common manifestations in TS
CNS
Cortical tuber
90-100%
Subependymal nodule
90-100%
White matter hamartoma
90-100%
Subependymal giant cell astrocytoma
6-16%
Skin
Facial angiofibroma (adenoma sebaceum)
80-90%
Hypomelanotic macule (ash leaf)
80-90%
Shagreen patch
20-40%
Forehead plaque
20-30%
Peri and subungual fibroma
20-30%
Eyes
Retinal hamartoma
50%
Retinal giant cell astrocytoma
20-30%
Hypopigmented iris spot
10-20%
GI
Microhamartomatous rectal polyp
70-80%
Liver hamartoma
40-50%
Other
Angiomyolipoma (kidney)
50%
Cardiac rhabdomyoma
50%
Major criteria for TS diagnosis. Definite, probable & possible criteria.
Definite = 2maj/ 1maj + 2min
Probable = 1mj+1min
Possible = 1 maj/2min
Vaccines, infections associated with increased risk of GBS?
Infections
-GIT = campylobacter jejuni, H pylori
-Respiratory = Myocoplasma pneumoniae
Vaccines
-Rabies vaccine
-Influenza
-Oral polio vaccine
-Conjugated menincoccal C vaccine
Antibodies in GBS
Antiganglioside A
Anti-GM1 🡪 campylobacter associated GBS
Anti-GQ1b 🡪 Miller Fisher syndrome
- opthalmoplegia, ataxia, areflexia (CN6 involvement)
Consider if CN involvement or significant ataxia
Prognosis of GBS and poor prognostic factors
- Children with FBS recover better than adults
- 90% of children fully recover – small number have mild weakness
- Relapses uncommon
- Very small percentage later develop CIDP
Features predictive of poor outcome
Cranial nerve involvement
Intubation
Features/cause of tick paralysis
Ixodes holocyclus
- East coasy
- Ascending symmetrical flaccid paralysis/CN involvement, opthalmoplegia & facial weakness
Changes on NCS for axonal vs demyelinating pathology
Axonal = decreased amplitude, sensory fibres first
Demyelinating = decreased velocity
Differentiate neuropathy & myopathy & dystrophy
Neuropathy (involves LMNs): distal >proximal, decreased DTRs
Myopathy (involves motor unit): proximal > distal, N DTRs, static/slowly progressive, findings only on genetics/ muscle Bx
Dystrophy (destruction of supporting proteins), progressive, elevated CK
Cause of death by respiratory failure in DMD
Restrictive deficit resulting from weak intercostal and associated muscles
VC in early years increases with age and growth
IN the early teens, VC plateaus and then shows a steady decline
Respiratory failure typically occurs in late teens or early 20s – nocturnal hypoventilation and hypoxia
Rx: BIPAP/CPAP- discussions re palliation
Differentiate FSHD/Emery Dreyfuss
FSHD- AD- onset late teens reduc triplet repeat D4Z4- toxic & kills protein, facial + scap/UL weakness- traps first, cannot do sit up/puckered face
- N CK level, Dx on genetic testing
- No treatments
ED- X linked, onset 5-15yrs, FSH weakness, NO facial weakness, DCM/stroke common
- CK elevated
- No Rx
Earliest and most consistent signs pf MS?
Unilateral or bilateral but usually asymmetrical ptosis
Extra-ocular muscle weakness = progressive; NO defect in acuity itself, PEARL
6y/o boy, broad gait, reduced sensation & power, decreased LL DTRs & urinary retention, UL exam normal
Transverse myelitis
Demyelinating neuropathy
Bilateral cord inflammation at a particular spinal level (can involve multiple)
Sx:
- Occurs hrs - weeks
- Sudden onset back pain/weakness/parasthesia & reduced reflexes
- Can procede to urinary retention/bowel incontinence
Ix:
- MRI to diagnose, CSF- pleocytosis/elevated protein, MOG/NMO ABs, serology
Rx: steroids, plasma exchange
4y/o w weakness & funny feeling in their legs. Initially both feet, now whole LL, absent reflexes on exam. Recent gastro infection.
Guillian Barre
Ascending inflammatory polyneuropathy
LL>UL (20%)
Progresses over days-weeks
CN involvement common
Assoc: campylobacter, H.Pylori, mycoplasma
vaccines:
- Rabies
- Flu
- Oral polio
- Conjugated MenC
Features required for diagnosis:
1. Progressive weakness of more than one limb
2. Loss or decrease in deep tendon reflexes within one week of onset
Ix: NCS (axonal or demyelinating), Anti GM1/GQ1b ABs, CSF cytoalbuminologic dissociation, MRI Nerve root enhancement in 90%
Rx: IVIG, supportive
90% fully recover
15y/o girl with tingling sensation in LL, imbalance & urinary retention. Previously has had 2x episodes of painful unilateral visual loss.
Multiple sclerosis
F>M, onset 2nd decade, if <6 (rare), more likely male
Optic neuritis + myelitis
Relapsing/remitting course
MRI- discrete spinal lesions on T2, LP may be N or have raised oligoclonal bands
Rx: steroids acute relapse
DMARDs- IFN beta
2nd line natalizumab, fingolimod- avoid live vaccines & risk of JC virus & PML
SIADH vs cerebral salt wasting?
SIADH
- Increased ADH in response to infection, Ca, drugs
- Low plasma osmolarity/high osmolarity urine
- Euvolaemic hyponatremia
- Meds: SSRI, vincristine, CBZ/valp, cyclophosphamide
- Rx: fluid restriction/high salt, if seizures- 3% saline, demeclocycline can inhibit ADH
Cerebral salt wasting
- Infectious encephalitis, CNS tumors/surgery
- Mimics SIADH however is due to a primary defect
- Hyponatremia, low serum osmolarity/elevated urine osmolarity, polyuria
- Clinical evidence of dehydration distinguishes- ECF depletion- reduced turgor/increased HCT
Sx & MRI changes with metachromic leukodystrophy?
AR- lysosomal storage disorder, most common leukodystrophy
<3yrs, abnormal gait, muscle rigidity & loss of vision & dysphagia
MRI: PV deep white matter- frontal & posterior horns
Looks like car wheels- cant see/drive
Sx & MRI changes with adrenoleukodystrophy?
> 3yrs
Progressive motor, cognitive function impairment + vision & hearing loss
MRI: Deep WM- parieto-occipital
Changes up the back: slow kids sit up the back
Sx & MRI changes with Krabbe Disease?
AR lysosomal storage disease (damage to myelin processing)- mimics other conditions
Behavior change/irritability, cognitive decline, opithsotonus, bulbar palsies
Cerebellar/WM change + PVL
Sx & MRI changes with Leigh?
Subacute necrotising encephalomyelopathy
Movement disorder- Hyperekplexia, describe?
Hyperekplexia = episodes of stiffness/exagerrated startles, retained primative reflexes.
Can be aborted by neck flexion
Movement disorder- Hyperekplexia, describe?
Hyperekplexia = episodes of stiffness/exagerrated startles, retained primative reflexes.
Can be aborted by neck flexion
Paroxysmal kinesigenic dyskinesia- Sx?
- Rare genetic movement disorder
- Dystonia can be elicited by exercise/certain postures
Dopa-responsive dystonia- Sx?
- Onset ~6yrs
- Dystonic posturing of a lower limb
- Responds well to levodopa treatment
Infantile spasms within the 1st yr of life
- chorio-retinal lacunae and
agenesis of the corpus collosum.
Aicardi syndrome
- Resistant to AEDS
- X- linked dominant (lethal in males)
Hypotonia in neonate, tonic spasms in clusters. Burst supression in sleep/wake
Otohara Syndrome
4mo with infantile spasms that usually occur in clusters (particularly in drowsiness or upon arousal), developmental
regression & hypsarrythmia on EEG
West syndrome
5yo with developmental delay,
multiple seizure types. 1-2Hz spike and wave with polyspike bursts in sleep
Lennox Gastaut
5y/o boy previously well, recently noted to have difficulty speaking. 3-4x episodes of seizures.
Landau-Kleffner
Types of myopathy and features
Central core
- Prox weakness
- Malignant hyperthermia (RYR1 mutation)
Nemaline rod
- Most common
- Face, limbs & neck
Myotubular
- Pain during exercise
- Difficulty walking
Dx this EEG?
Landau-Kleffner
Continuous spike & wave during sleep
Epileptiform activity in temporal/parietal regions
Diagnosis and management of septo-optic dysplasia?
Septo-optic dysplasia
Two of:
* Optic nerve hypoplasia
* Pituitary hormone deficiency
* Midline brain defects: absent septum pellucidum +/- corpus callosum
Ix: MRI-B, opthalmology, short synacthen test and growth hormone test to confirm central
Rx: glucocorticoid replacement first, then treat hypothyroid, GH deficiency and DI
What AEDs to avoid in absence/myoclonic seizures?
CARBAMAZEPINE
Other drugs that should not be used are gabapentin, pregabalin, oxcarbazepine and tiagabine
