Neurology Flashcards
When do infantile spasms present?
Infantile Spasms
• 90% present in first year (peak 4-6
months)
What do spasms look like?
Frequent clusters of flexor, extensor, or
mixed spasms
What is the EEG pattern for infantile spasms?
EEG pattern hypsarrhythmia
- Chaotic, high amplitude background
- Multifocal spikes
How do you treat infantile spasms?
Treated with vigabatrin (retinal toxicity) or ACTH (irritability, central adrenal axis suppression)
or high dose Prednisone
What conditions are associated with Infantile Spasms?
Tuberous Sclerosis (e.g., hypopigmented macules) or Down Syndrome
What is sandifer syndrome?
Sandifer Syndrome
• Abnormal movements (often axial stiffening) occurring due to GERD
• Usually occur with or after feeds in “spitty” baby
What does benign myoclonus of infancy look like?
Benign Myoclonus of Infancy
• AKA Shuddering Attacks
• Sudden brief symmetrical axial flexor spasms of trunk and head lasting 1-2 s OR “vibratory” tonic flexion of neck
• May be provoked by excitement/fear
• Normal exam
• Spontaneous remission by 5 years of life
Need to R/O Infantile spasms
What is the EEG finding for benign myoclonus of infancy?
Normal
How old are children when they have breath holding spells
• Present from 6-18 months of age
What do breath holding spells look like and what are the two types?
- ~1 min episodes of LOC
- Cyanotic: Apnea and cyanosis after agitation
- Pallid: Limpness, diaphoresis and pallor after injury
What is the treatment for breath holding spells?
- 100% will resolve by 8 years of age
* Reassure parents and consider treatment with iron supplementation
What condition is breath holding spells associated with?
• Association with iron deficiency anemia
How old are children with infantile masturbation?
Infantile Masturbation
• Often starts within first year of life
• More common in girls
• Most have spontaneous remission by 3 years of life
What do episodes of infantile masturbation look like?
More common in girls
Characterized by episodes of:
• Repetitive pelvic rocking
• Adduction of legs
reduced responsiveness - but distractible…may return to behaviour
can get some autonomic symptoms with this may happen
• Pelvic pressure (hands or on object (e.g., car seat))
How old are children when Childhood absence epilepsy starts?
Childhood Absence Epilepsy
• Present in first decade (peak 6-7 years)
What does Childhood absence epilepsy look like clinically?
• Typical absence seizures hundreds of times/day
• Otherwise patient is essentially norma
- May be doing poorly in school….frequent seizures
What do you treat childhood absence epilepsy with?
Treat with ethosuximide: First Line
valproic acid or lamotrigine
What is the prognosis of Childhood Absence Epilepsy?
70% of patients will outgrow seizures in
adolescence
What should you NOT treat childhood absence epilepsy with?
oxcarbazamine should NOT be used in these patients - can make it worse
What is the typical age of onset for benign rolandic epilepsy?
4-10 years
What do seizures in BRE look like?
• Nocturnal focal seizures of face lasting 1-2 minutes with no loss of consciousness
- Often 2-3 hours after falling asleep.
- often involves vocal cord movement as well - so cannot speak unable to speak or swallow, but can communicate and can follow commands will see a lot of drooling
- Usually only have seizures at night
• May have less than 10 events total
What is the prognosis for BRE?
Overall a BENIGN condition • Most outgrow in puberty • Likely do not require treatment • If treat, Keppra (levetiracetam) appears to be best
What medication can you NOT use for BRE?
for those who require treatment (frequent seizures)
oxcarbazapine can make it worse in this case
phenytoin avoided because of long-term consequences
Would treat with carbamazepine
What anti epileptics are used in children <2
Children < 2 years • Phenobarbital • Good for generalized or focal • Major adverse effect = sedation • Reversible effects on IQ
- Second line
- Levetiracetam • Topiramate
What anti epileptics should you not use in children <2
Children < 2 years
• Don’t use…
• Valproate – increased risk of toxicity (hyperammonemia)
• Carbamazepine or oral phenytoin – poor absorption
What anti epileptics do you tend to use in children >2
- Valproate is never wrong (can use for generalized or focal): Unless the patient has an underlying metabolic disease (e.g., mitochondrial, glycogen storage disease)
- Avoid in teenage girls
What are side effects of valproic acid
• Valproate is never wrong • Often not first choice simply because of many risks associated with use • Sedation • Hair thinning • Weight gain • Tremor • Thromobocytopenia • Bone health • Pancreatitis • Hepatitis
Child > 2 with focal seizures…best anti epileptic?
Children > 2 years
• Focal onset
• Carbamazepine/oxcarbazepine
• Levetiracetam
Child > 2 with generalized seizures…best anti epileptic?
- Generalized onset
- Levetiracetam
- Lamotrigine
- Ethosuximide (absence)
What are the No-Nos of Antiepileptics?
No No’s
• Do not use carbamazepine/oxcarbazepine or phenytoin with absence or myoclonic seizures
• NEVER give phenytoin IM (can cause burns, necrosis
but you can give fosphenytoin IM)
• Do not use valproic acid in child with potential metabolic disease
Indications for Imaging a Headache
Definite
• New associated neurological findings (e.g., seizures, persistent abnormal gait)
• New focal abnormalities on neurological
exam
• Papilledema
Questionable
• Sudden onset of severe headache (worst pain of life)
• Pain that wakes patient from sleep
• Pain consistently worst in mornings
• Recent head injury
• Change in headache type
• Occipital location (think Chiari malformation)
• Pain worse with cough or valsalva
• Poorly defined pain (does not fit any
classic headache type)
• Persistent morning time vomiting with headache
Diagnostic Criteria for Paediatric Migraine
SULTANS Criteria: 1. 5 or more attacks n a year 2. Each lasts 1-72 hrs •Headache has 2 of the following characteristics... Severity (moderate-severe pain) UniLateral (or BL) Throbbing Aggravated by activity
• Plus at least one of…
Nausea/vomiting
Sensitivities = photophobia/phonophobia
• Not better explained by another condition
What does a hemiplegic migraine look like?
• Hemiplegic migraine
• Ca++ channelopathy
• Transient hemiplegia followed by headache
Family history of migraine
What is an abdominal migraine?
• Abdominal migraine • Non-specific abdominal symptoms • Usually in young children • Eventually develop classic migraine Usually a family history of migraine
What does a basilar migraine look like?
• Basilar migraine
• Transient ataxia and/or cranial nerve
deficits
posterior foss affected
What does a migraine with Benign paroxysmal vertigo look like?
• Transient episodes of severe vertigo lasting min-hrs +/- headache
- Family history of migraines
sudden attacks of falling to the ground
What does a Retinal migraine look like?
• Transient episodes of blindness or scotoma
Visual Vision loss with subsequent headache
Abortive Management of paediatric migraine.
Abortive
• Ibuprofen 10 mg/kg q 6 hrs (may require double strength at first dose)
• Triptans (sumatriptan, rizatriptan, zolmitriptan) – more adverse effects
• Acetaminophen (high dose)?
What are the preventative treatments for paediatric migraine?
Proven
• Avoid caffeine
• At least one hour of exercise per day
• Placebo
• Nutraceuticals (magnesium, riboflavin, butterbur, coenzyme Q10)
• Flunarizine 5 mg daily
Others: valproic acid, amitriptyline, topiramate, propranolol
Possible
• Non-pharmacological (regular meals & sleep, avoid food triggers, stress management)
if asthma is in the question, do NOT use propranolol can mask complications in patients who have asthma
What is the clinical presentation of intracranial hypertension or pseudotumor cerebra?
• Pressure type headache (e.g., morning time, worse after laying down, better with standing, papilledema)
- vomiting
- Transient visual obscuration and diplopia
- Most patients are alert and lack constitutional symptoms.
Examination:
- bulging fontanel
- a “cracked pot sound” or MacEwen sign (percussion of the skull produces a resonant sound)
- Papilledema with an enlarged blind spot
- An inferior nasal visual field defect may be detected
LP…Opening pressure >30
Causes of pseudotumor cerebri
• Idiopathic form – young obese females
• Secondary forms – tetracyclines (minacycline), venous sinus thrombosis
Growth hormone
Vitamin A
Treatment for IIH
**The key objective in management is recognition and treatment of the underlying cause.
Pseudotumor cerebri can be a self-limited condition, but optic atrophy and blindness are the most significant complications of untreated pseudotumor cerebri.
- weight loss regimen
- drug is thought to be responsible, it should be discontinued.
- serial monitoring of visual function is required.
- Serial determination of visual acuity, color vision, and visual fields is critical in this disease.
- Serial optic nerve examination is essential as well.
- Serial visual-evoked potentials are useful if the visual acuity cannot be reliably documented.
- The initial lumbar tap that follows a CT or MRI scan is diagnostic and may be therapeutic. Several additional lumbar taps and the removal of sufficient CSF to reduce the opening pressure by 50% occasionally lead to reso- lution of the process.
- Acetazolamide, 10-30 mg/kg/24 hr
- Corticosteroids are not routinely administered
- Sinus thrombosis is typically addressed by anti- coagulation therapy.
What are tension type headaches like?
everything that migraine is not
• Bilateral, pressure, mild intensity, not worse with activity
Tension Headache
• Bilateral location
•Pressing/tightening quality
•Mild-moderate intensity
• Not aggravated by routine physical activity
• No nausea/vomiting
• No more than one of photophobia or phonophobia
What is a Trigeminal Autonomic Cephalalgias?
- Includes cluster headache (and others)
- Rare in children
- Unilateral, severe, and associated with prominent autonomic phenomena (e.g., tearing, swelling)
What does SMA Type 1 look like clinically?
Spinal Muscular Atrophy
• Disease of anterior horn cell (motor neuron)
• Proximal weakness, hypotonia, areflexia (because the anterior horn cell can not conduct this reflex)
- severe hypotonia
- generalized weakness
- thin muscle mass
- absent tendon stretch reflexes
- involvement of the tongue, face, and jaw muscles; and sparing of extraocular muscles and sphincters.
- Diaphragmatic involvement is late.
- contractures, ranging from simple clubfoot to arthrogryposis
- infants lie flaccid with little movement, unable to overcome gravity
More than 65% of children die by 2 yr of age, and many die early in infancy.
What does SMA 2 look like?
- affected infants are usually able to suck and swallow, and respiration is adequate in early infancy.
- Nasal speech and problems with deglutition
- Scoliosis
Many survive into the school years or beyond, although confined to an electric wheelchair and severely handicapped.
The outstretched fingers of children with SMA often show a characteristic tremor owing to fasciculations and weakness.
Myalgias are not a feature of SMA.
The heart is not involved in SMA.
Intelligence is normal
Lab findings for SMA
CK level may be normal but more commonly is mildly elevated in the hundreds.
Results of motor nerve conduction studies are normal (an important feature distinguishing SMA from peripheral neuropathy)
Inheritance of Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy
• X-linked recessive – found in boys
Clinical Presentation of DMD
• Progressive destruction of muscle over time – does not present in infancy
• Proximal weakness, Gower’s, calf pseudohypertrophy (not atrophy)
- Poor head control in infancy may be the first sign of weakness.
- In later childhood, a “transverse” or horizontal smile may be seen.
- Walking is often accomplished at the normal age of about 12 mo, but hip girdle weakness may be seen in subtle form as early as the 2nd year.
- A Trendelenburg gait, or hip waddle, appears at this time.
- Common presentations in toddlers include delayed walking, falling, toe walking and trouble running or walking upstairs, developmental delay, and, less often, malignant hyperthermia after anesthesia.
- After the calves, the next most common site of muscular hypertrophy is the tongue, followed by muscles of the forearm.
- Cardiomyopathy, including persistent tachycardia and myocardial failure
Myotonic Dystrophy Clinical picture
Myotonic Dystrophy
• Trinucleotide repeat disorder (>50 CTG)
• Classically associated with “myopathic facies” (bilaterally non-fatigable ptosis, tented mouth)
• Present with weakness – myotonia later
• Multiple systems involved (cataracts, cardiac arrhythmias, balding, etc.)
h/o polyhydramnios, hypotonia, weakness involving face and limbs, contractures
• Severe respiratory issues (25% die in neonatal period)
What does Guillain-Barre Syndrome Look like?
• Post-infectious, sub-acute polyneuropathy
• Length dependent symptoms the longest nerves are affected first - they will accumulate injury first
- (“glove and stocking” by the time you have your stocking on (half way up your leg), you start to have arm involvement)
Must have:
• Progressive motor weakness of more than one limb
• Areflexia or marked hyporeflexia
Supportive:
• Progression over days to a few weeks
• Relative symmetry
• Mild sensory loss
• Onset with extremity pain or discomfort
• Cranial nerve involvement
• Onset of recovery 2-4 weeks after halt of progression
• Autonomic dysfunction
• Initial absence of fever
• Elevated CSF protein after 1 week of symptoms
• Abnormal nerve conduction studies with slowed conduction or prolonged F waves
Classic Infections associated with Guillain barre
- Classically after infection with campylobacter jejuni
* H. Influenzae is second most common in axonal GBS
Treatment for Guillain Barre Syndrome
• Treat with IVIG
Spastic hemiplegia usually presents how?
Spastic hemiplegia often isn’t seen until after 6 months of age
– presents with early hand preference
What type of CP is PVL associated with?
Spastic diplegia is associated with bilateral periventricular leukomalacia (PVL)
• PVL only occurs between 24-32 weeks gestation
What is Syndeham Chorea associated with?
- After group A strep infections, patients can present with Sydenham chorea
- Almost constant chaotic movements of limbs
- Behavioural changes
Signs and Symptoms of UMN lesion
• Upper Motor Neuron
– spasticity ( tone)
– hyperreflexia
– no fasciculations, no atrophy
Signs and Symptoms of LMN Lesion
• Lower Motor Neuron – low tone – hyporeflexia – atrophy – fasciculations
Peripheral Nerve Lesion Findings
• peripheral nerve
– motor or sensory to specific distribution (focal neuropathy, mononeuritis) or diffusely, but legs > arms
– weakness is distal > proximal
– LMN findings
Neuromuscular junction lesion findings
– pure motor problems – random or generalized distribution - Fatiguable weakness - normal or dec tone - normal reflexes
Muscle problem findings
– motor only
– weakness proximal > distal
– preserved reflexes (until late)
– atrophy
What is the most common type of paediatric seizure?
Febrile Seizure
Age of Febrile Seizures
- 3months–5years
* 2-4% of children will have a febrile seizure before the age of 5 years
What do febrile seizures look like?
• 80% simple, 20%complex
Simple/Typical Febrile Seizures
• generalized
• last less than 15 minutes (majority last 3-6 min)
• not recurring w/in 24hrs
• no post-ictal abnormalities(i.e.,no association with Todd’s paralysis)
Complex/Atypical Febrile Seizures
• not meeting any of the above criteria
How many children will have recurrence of febrile seizure?
- 1/3 of patients will have recurrence
- more common in Asian countries
- slightly more common in males
Risk Factors for developing febrile seizures?
• 30% if child has 2 or more of... – first or second degree relative with a history of febrile seizures (10-20% if sib, greater if parent) – developmental delay – attendance at day care – hx of >28 days in NICU
What increases your risk of recurrence of febrile seizures?
Risk of Recurrence • young age (50% recurrence when <12months) • family history of febrile seizures • initiated by low fever • persistent neurologic abnormalities • first febrile seizure was complex
Management of Febrile Seizure
No EEG
Imaging Generally Not needed
LP if <1.5 and concerned about meningitis
Long-Term Management
• antipyretics?
– no evidence for prevention
• anticonvulsants?
– phenobarbital and valproate are effective BUT are not indicated
– could be considered if patient is very medically fragile and further seizures could be life threatening
Risk of developing epilepsy after having febrile seizure
Risks for Developing Epilepsy
• general population= 0.5%
• simple febrile seizure = 1% (2x baseline)
• complex febrile… increased risk
- presence of developmental delay or family history of epilepsy also independent risk factors
- 15-20% of children with epilepsy have a history of febrile seizures
- febrile convulsions lasting >90 minutes associated with increased risk of developing mesial temporal lobe sclerosis
Risk of Recurrence from unprovoked seizure
• risk of recurrence after 1 unprovoked seizure=
40%; after 2 unprovoked = 80%
What is the strongest predictor of recurrence of unprovoked seizure?
abnormal neurologic examination
What is the inheritance and pathophysiology of benign familial neonatal convulsions?
• autosomal dominant
-potassium channelopathy
What does benign familial neonatal convulsions look like?
• usually begin on day 3 of life • 2-3 minute tonic seizures occurring 20-30 times per day • normal pregnancy, delivery, exam, EEG - Can be focal or generalized • 80-90% remission within 6 months • no AEDs needed Normal imaging • Usually positive family history of similar events
What are benign neonatal convulsions?
Benign Neonatal Convulsions • AKA “Fifth Day Fits” • usually begin on day 5 of life • 2-3 minute clonic seizures occurring frequently over hrs to days • may require acute treatment for status • generally do not have recurrence
What are some treatable neonatal seizures?
Treatable Neonatal Seizures • pyridoxine dependant seizures • pyridoxal phosphate dependant seizures • folinic acid responsive seizures • glucose transporter type 1 syndrome
Management of Status Epilepticus
- benzodiazepine x 2 doses if needed
- phenytoin 20mg/kg OR phenobarbital 20mg/kg
- midazolam infusion in ICU
- if cannot get IV–consider rectal benzo (if hasn’t already been given) or paraldehyde
What is the most common type of CP?
Spastic Diplegia
What is Spastic Diplegia and what is it caused by?
- spasticity in lower limbs bilaterally
- caused by periventricular leukomalacia– damages fibres running closest to ventricles (legs closer than arms)
- PVL due to watershed injury between GA 26 and 30 weeks. prenatal or in prems
- not generally associated with MR
What is Spastic Quadriplegia and what is it caused by?
Spastic Quadriplegia
• spasticity in both upper and lower limbs bilaterally
• often associated with other neurological deficits (e.g., cognitive deficits, epilepsy, visual deficits)
• multiple causes– extensive PVL, IVH grade IV, diffuse cerebral malformation
• may be caused by prenatal, perinatal, or postnatal brain injury
What is Spastic Hemiplegia and what is it caused by?
Spastic Hemiplegia
• unilateral spasticity and motor deficit in upper and lower limb
• 75% associated with prenatal insult (often in utero MCA stroke)
• often not noticed until end of 1st year (due to immature myelination)
• look for early hand preference
• 20-50% associated with epilepsy and/or MR
What is dyskinetic CP and what is it caused by?
Dyskinetic CP
• minority of cases–10% of CP population
• most associated with perinatal distress or kernicterus
• global hypoperfusion in perinatal period - injury to basal ganglia and thalamus
• associated with abnormal movements– dystonia, chorea, athetosis
• may not display full extent of problems until 2 years – may look like progressive disease
• may have normal IQ
What is the gene effected in Duchenne Muscular Dystrophy?
Duchenne Muscular Dystrophy
• Xp21
– dystrophin – structural myocyte protein
– deletion: in-frame = Becker’s; out-of-frame = DMD
What are some of the early signs of DMD
• present at 3-4 years with... – toe-walking – waddling (Trandelenberg) gait – hyperlordosis – difficulties arising from floor/walking up stairs
• on exam, look for…
– Gower’s sign
– gastrocnemius pseudohypertrophy
What lab findings would be a clue to DMD?
• CPK>10,000
Abnormally elevated AST
What do you treat DMD with?
• treat with deflazacort 0.9mg/kg/day
What are the complications of DMD?
• complications... – scoliosis – respiratory failure – osteopenia – end-stage cardiomyopathy
• previously, wheelchair by 10, bedridden by 15, death by 20
What is Congenital Myotonic Dystrophy and how does it present?
• often associated with polyhydramnios due to impaired
swallowing in utero
• present with hypotonia, feeding difficulties, and
respiratory impairment
• may also have hyporeflexia, athrogryposis, talipes, and elevated right diaphragm
• 25% die in neonatal period due to respiratory problems
• >75% have cognitive deficits
• if make it past neonatal period, muscle function improves then worsens again in second or third decade of life
• check mother for evidence of myotonia (frontal balding, diabetes, hand myotonia, dull congition)
What is the Inheritance of NF1?
• autosomal dominant
most common AD disorder
What gene is affected in NF1?
–17q12 (number of letters in neurofibromatosis)
– tumour suppressor gene
100% penetrance by 5 years of age
What is the diagnostic criteria of NF 1?
Diagnosis • have 2 of the following... • C–café au lait macules (Six or more café-au-lait macules over 5 mm in prepubertal individuals and over 15 mm in postpubertal individuals). • R–relative with NF (1st degree) • O–optic nerve glioma • P–pseudoarthrosis • L–Lisch nodules (2 or more) • A–axillary freckling (or inguinal) • N–neurofibromas (>2 typical or 1 plexiform) • D–dysplasia of the sphenoid
What is NF 1 associated with (other medical issues/conditions)
– macrocephaly (50%)
– learning disabilities (33%)
– short stature (33%)
• higher incidence of…
– Moya Moya disease
– leukemia, other CNS tumours (ependymoma, astrocytoma, pheochromocytoma)
• MRI shows FASI (focal areas of signal intensity)
• need to follow and monitor optic nerve glioma
What is the inheritance of TS?
• autosomal dominant
–TSC1 (9q34), TSC2 (16q13)
tumor suppressor gene
What is the diagnostic criteria for TS?
diagnosis= 2 major features or 1 major and 2 minor
Major Criteria
• mnemonic–“a la grass hut”
• A–adenoma sebaceum
- L–lymphangiomyomatosis
- A–ash leaf spots– > 3 hypopigmented macules
- G–giant cell subependymal astrocytomas
- R–rhabdomyoma in heart
- A–angiomyolipoma of the kidney
- S–shagreen patch
- S–subependymal nodules
- H–hamartomas of the retina
- U–ungual fibromas
- T–tubers
Minor Criteria • cerebral white matter radial migration lines • retinal achromic patch • gingival fibromas • dental pitting • “confetti” skin lesions • non renal hamartomas • hamartomatous rectal polyps bone cysts • multiple renal cysts
What conditions are associated with TS?
- developmental delay (10-15%)
- autism
- seizures (80-90%; infantile spasms, GTC)
- cardiac failure (usually present in prenatal period or in infancy)
- renal failure
What is the inheritance of Sturge weber?
sporadic
What is the pathophysiology of Sturge Weber Syndrome
- facial capillary malformation (port-wine stain)
- abnormal blood vessels of the brain (leptomeningeal angioma)
- abnormal blood vessels of the eye leading to glaucoma.
Typically see: Port wine stain, glaucoma, developmental delay, seizures
How do you diagnose Sturge Weber?
- MRI with contrast: to see the leptomeningeal angioma in SWS.
- White matter abnormalities are common and are thought to be a result of chronic hypoxia.
Ophtho eval for glaucoma is also necessary.
What other features are associated with Sturge Weber Syndrome?
- intractable seizures (90% by 3 years)
- stroke-like episodes
- hemiparesis (25-60%)
- hemianopsia (40-45%)
- vascular headaches (40-60%)
- developmental disabilities (more common when bilateral) – (50-75%)
- buphthalmus (70%)
- glaucoma (30-70%)
- choroidal hemangiomas (40%)
What are some types of infratentorial tumours
Infratentorial Tumors (70%) • Pilocytic Astrocytoma • Medulloblastoma • Brainstemglioma • Ependymoma • Choroid Plexus Papilloma • Hemangioblastoma
What are some examples of supratentorial tumours?
Supratentorial Tumors (30%) • Ganglioglioma • DNT • PNET • Teratoma
How do supratentorial tumours present?
– signs of increased ICP (headache, N/V, ̄ LOC)
– seizures
How do infratentorial tumours typically present?
– slowly progressive cranial nerve deficits (e.g.,
diplopia, facial palsies, slurred speech) = brainstem
– clumsiness, increased falls, abnormal eye movements (e.g., nystagmus) = cerebellum or brainstem
What movement disorder is associated with GAS infection?
Sydenham’s Chorea
• post-infectious–occurs several months after acute rheumatic fever associated with GAS infection – molecular mimicry
• children 5-15 yo–highest in teenage girls
• lasts 2-4 months (avg)
• 20-70% relapse rate if not treated with antibiotics – generally within 2 years
What does Sydenham’s chorea look like?
– chorea – chaotic, rapid, non-stereotyped movements, often incorporated into “intentional movement”
– behavioural disturbances
– OCD
– tics
– ?PANDAS?? – or is this a separate entity?
Work up for Sydenham’s Chorea
- check throat swab, ASOT (both non-specific)
- consider CSF for anti-BG antibodies (90%sens)
- echocardiogram (complications from RF)
Management for Sydenham’s chorea
• management…
– no evidence based studies
– most advocate penicillin V for 10 days acutely and then penicillin G (q month) or V (daily) for prevention of relapse (until early adulthood)
– if antibodies present, some consider IVIG
– treat symptomatically if needed
• natural history is that of spontaneous resolution without treatment after 2-4 months
Work up for an Unprovoked seizure/
- CBC, glucose, lytes, Ca, Mg, PO4, and toxicology screen should be considered (case specific)
- LP should be done in children <6 months of age and in any children with a question of meningitis
- EEG
- epileptiform activity = 54% vs. 25% recurrence
- Timing? Less helpful if completed immediately following seizure (w/in 24 hours)
Differential for baby with shuddering attacks
Colic GERD Infantile Spasms Myoclonic epilepsy Benign Infantile Myclonus
EEG pattern with Childhood Absence Epilepsy
• EEG shows 3-Hz spike and wave
What does Juvenile Myoclonic Epilepsy Look like?
Juvenile Myoclonic Epilepsy
• Onset in late childhood/early adolescence
• Usually present with jerking in morning (myoclonus)
• Later present with GTC sz. and can also have absence seizures
How do you treat JME?
- Treatment: Valproic Acid (or Lamotrigine) Keppra
- Discuss pros and cons of either
• Prognosis: Life-long epilepsy requiring treatment, however seizures easily controlled (controversial)
Teen with new epilepsy: counsel
Good sleep: can be trigger No substances Good compliance with meds No driving for 6 months Girls should be on OCPs if teratogenic AED Safety, helmets, supervised swimming etc
What are some side effects of valproic acid?
• Valproic acid = weight gain, hair loss, tremor, PCOS, increased LFT’s, pancreatitis, thrombocytopenia, hyperammonemia
What are side effects of phenytoin?
• Phenytoin = gingival hyperplasia, ataxia,SJS, bone, liver
What are side effects of carbamazepine?
• Carbamazepine = SJS, agranulocytosis, ataxia, SIADH
What are the side effects of Ethosuximide?
• Ethosuximide = agranulocytosis
What are the side effects of topamax?
• Topamax = kidney stones, cognitive slowing, weight loss, metabolic acidosis
What are the side effects of lamotrigine?
• Lamotrigine = SJS
What are the side effects of keppra?
• Keppra = Behavioural disturbance, suicidal ideation
What are some characteristic features of Lennox-Gastaut Syndrome?
Lennox-Gastaut (nocturnal tonic sz, GTCS, myoclonic sz, MR, slow-spike wave 1-2 Hz generalized epilepetic encephalopathy)
What are some characteristic features of Landau Kleffner Syndrome?
Landau-Kleffner
aphasia with convulsive disorder
(acqd epileptic aphasia, language regression in pre-school age children, CSWS or ESES pattern on EEG, sporadic seizures)
What does Paroxysmal torticollis of infancy look like
Migraine variant irritability vomiting prolonged persistent dystonia to one side of the head
Treatment for status migranosus
- Severe migraine without aura for > 72 hrs
- Management…
- Dark quiet room, IV fluids, sedation
- IM/IV Ketoralac (Toradol)- if no NSAID in previous 6 hours
- Anti-emetics (metoclopramide/Maxeran 10mg/kg) •
Modified Raskin Protocol:
Dihydroergotamine + metochlopramide
• IV steroids (methylpred 1mg/kg/dose, dex 0.25- 0.5mg/kg/dose)
Medication Overuse Headache?
• Similar in character to tension headache
• Often presents as chronic daily headache
• Patient taking analgesics on > 15 days per month for >
3 months
• May develop rebound headaches when medications are withdrawn
• Need to withdraw slowly or give po steroids as transition for abrupt withdrawal
Better Marker for Neonatal Asphixia.
• Umbilical cord pH and lactate are better indicators for perinatal asphyxia
Work up for kid with Developmental Delay
- Hearing and vision testing!!
- B/W: CBC, lytes, LFT, RFT
- Metabolic screen not recommended unless clinically indicated (low diagnostic yield)
- Genetic testing: Karyotype, Fragile X, Rett’s/MECP2 mutation (in females)
- Microarray if 2 or more congenital malformations
- MRI
Diagnostic Test for Myasthenia Gravis
Edrophonium test- for MG
What infectious organism is found in honey?
Botulism
• Infectious intestinal toxemia form of human botulism
• Ingested spores of C. Botulinum (or rarely neurotoxigenic C. Butyricum or C. baratii) colonize the large intestine and produce botulinum toxin in lumen
• 7 antigenic variants of C. Botulinum(type A-G) but most A or B
• Spores found in soil, honey
• Toxin blocks the release of acetylcholine at the neuromuscular junction and other peripheral cholinergic synapses
What Does Infant Botulism Look like?
• Symmetric descending paresis/paralysis over hours to a few days (acute flaccid paralysis: beginning with the cranial nerve musculature) • Constipation • Lethargy • Poor feeding , weak suck, feeble cry - obstructive apnea •Generalized weakness • Decreased head control • Hypotonia •Diminished DTR’s • Hypoventilation • CN palsies
**associated with meckels
In older children with food-borne or wound botulism, the onset of neurologic symptoms follows a characteristic pattern of diplopia, blurred vision, ptosis, dry mouth, dysphagia, dysphonia, and dysarthria, with decreased gag and corneal reflexes.
toxin acts only on motor nerves, paresthesias are not seen in botulism, sensorium remains clear
Illness usually begins 12-36 hr after ingestion of the contami- nated food but can range from as little as 2 hr to as long as 8
Diagnosis of Botulism
- Isolation of toxin or organism in stool or serum
- EMG: incremental response with high-rate repetitive nerve stimulation at 30 Hz.
- Rule out other causes of generalized weakness
Treatment of Infant Botulism
Treatment
- Supportive care
- Botulism Immune Globulin Intravenous (BIG-IV)
- BabyBIGR available only through the CDHS Botulism Treatment and Prevention Program (www.infantbotulism.org)
- Treat within 72 hours of hospitalization in single dose most effective
Investigations with Guillain Barre
CSF studies are essential for diagnosis. The CSF protein is elevated to more than twice the upper limit of normal, glucose level is normal, and there is no increased WBC.
CSF bacterial cultures are negative, and viral cultures rarely isolate specific viruses.
MRI findings include thickening of the cauda equina and intrathecal nerve roots with gadolinium enhancement. These finds are fairly sensitive and are present in >90% of patients.
Motor Nerve Conduction Velocities are greatly reduced, and sensory nerve conduc tion time is often slow.
Electromyography (EMG) shows evidence of acute denervation of muscle.
Serum creatine kinase (CK) level may be mildly elevated or normal.
Antiganglioside antibodies, mainly against GM1 and GD1, are sometimes elevated in the serum in Guillain-Barré syndrome
Muscle biopsy is not usually required for diagnosis; specimens appear normal in early stages and show evidence of denervation atrophy in chronic stages.
Serologic testing for Campylobacter and Helicobacter infections helps establish the cause if results are positive but does not alter the course of treatment. Results of stool cultures are rarely positive because the infection is self-limited and only occurs for about 3 days, and the neuropathy follows the acute gastroenteritis.
Things that would cause doubt for a diagnosis of GBS?
- Marked, persistent asymetry of weakness
- Persistent bladder or bowel dysfunction
- Bladder or bowel dysfunction at onset
- Mononuclear leukocytosis in CSF > 50/uL
- Sharp sensory level
Treatment of Guillain Barre
Rapidly progressive ascending paralysis is treated with IVIG, administered for 2, 3, or 5 days.
Plasmapheresis and/or immunosuppressive drugs are alternatives if IVIG is ineffective.
Steroids are not effective.
Supportive care, such as respiratory support, prevention of decubiti in children with flaccid tetraplegia, and treatment of secondary bacterial infections, is important.
What is the inheritance of Incontinentia Pigmenti>
X-linked dominant gene that is lethal in males (IKK-gamma/NEMO gene). The paucity of affected males, the occurrence of female-to-female transmission, and an increased frequency of spontaneous abortions in carrier females support this supposition.
What are the phases of Incontinentia Pigmenti
1st phase: evident at birth or in the 1st few weeks of life, erythematous linear streaks and plaques of vesicles that are most pronounced on the limbs and circumferentially on the trunk.
- Blood eosinophilia
- resolves by 4 mo of age
2nd phase, as blisters on the distal limbs resolve, they become dry and hyperkeratotic, forming verrucous plaques.
- generally involute within 6 mo.
Epidermal hyperplasia, hyper- keratosis, and papillomatosis are characteristic.
3rd or pigmentary stage is the hallmark of incontinentia pigmenti.
- develops over weeks to months and may overlap the earlier phases
Hyperpigmentation is more often apparent on the trunk than the limbs and is distributed in macular whorls, reticulated patches, flecks, and linear streaks that follow Blaschko lines. GROIN and AXILLA
The pigmented lesions, once present, persist throughout childhood. They generally begin to fade by early adolescence
4th stage, hairless, anhidrotic, hypopigmented patches or streaks occur as a late manifestation of incontinentia pigmenti
List Other Associated Features with Incontinentia Pigmenti
- Alopecia
- Hair may be lusterless, wiry, and coarse.
- Dental anomalies (late dentition, hypodontia, conical teeth, and impaction).
- CNS manifestations, including motor and cognitive developmental retardation, seizures, microcephaly, spasticity, and paralysis
- Ocular anomalies
Diagnosis of Incontinentia Pigmenti
Clinical grounds
Wood lamp examination may be useful in older children and adolescents to highlight pigmentary abnormalities.
Clinical molecular testing is available, and in 80% of the affected patients a deletion that removes exons 4 through 10 of NEMO can be detected.
What is the presumed diagnosis in a child with a focal neurological deficit?
The acute onset of a focal neurologic deficit in a child is stroke until proven otherwise.
What is the most common presentation of stroke in a child?
The most common focal presentation is hemiparesis but acute visual, speech, sensory, or balance deficits also occur.
Children with these presentations require urgent neuroimaging and consultation with a child neurologist as emergency interventions may be indicated.
Best modality of neuroimaging for Arterial Ischemic Stroke?
AIS is a clinical and radiographic diagnosis.
CT imaging can demonstrate larger mature AIS and exclude hemorrhage, however MRI identifies early and small infarcts and is therefore required to exclude ischemic stroke.
What are the most common etiologies of Arterial ISchemic Stroke?
Often idiopathic
Three main categories of etiology should be considered: arteriopathic
cardiac
hematological (iron deficiency anemia, sickle cell, Coagulation disorders: factor V Leiden, antiphospholipid antibodies, prothrombotic states and prothrombotic medications: oral contraceptives and asparaginase chemotherapy).
Additional AIS risk factors include migraine, acute childhood illnesses, chronic systemic illnesses, illicit drugs and toxins, and rare inborn errors of metabolism.
Treatment of Arterial Ischemic Stroke?
Antithrombotic strategies depend on the suspected cause but include anticoagulation with heparins or antiplatelet strategies such as aspirin.
Neuroprotective strategies: control of blood glucose, temperature, and seizures and aggressive maintenance of cerebral perfusion pressure, with systolic blood pressures maintained in the high normal range.
emergency surgical decompression can be lifesaving.
Disease-specific treatments include transfusion therapy in SCA, immunosuppression in vasculitis, and revascularization surgery in moyamoya disease.
Long-term treatment goals include secondary stroke prevention, including antiplatelet therapy or, for cardiogenic causes, anticoagulation.
What do perinatal strokes present with?
- seizures alone.
- gradual evolution of hemiparesis in later infancy and remote AIS on neuroimaging.
Etiologies: cardiac and prothrombotic conditions discussed earlier, but additional maternal, prenatal, perinatal, placental, and neonatal factors must also be considered.
What is the main difference when treating a perinatal stroke?
Antithrombotic agents are only provided for cardiogenic embolism.
Clinical presentation of cerebral sinovenous thrombosis
In CSVT, thrombotic occlusion of these venous structures can create increased intracranial pressure, cerebral edema, and, in 50% of cases, venous infarction (stroke).
CSVT may be more common in children than in adults, and risk is greatest risk in the neonatal period.
Neonates typically present with diffuse neurologic signs and seizures.
Children may present with progressive headache, papilledema, diplopia secondary to 6th nerve palsies (frequently misdiagnosed as idiopathic intracra- nial hypertension), or acute focal deficits.
Seizures, lethargy, and confusion are common.
Imaging Modality to see CSVT
Non- enhanced CT is very insensitive for CSVT, and contrast CT venography (CTV) is usually necessary to demonstrate filling defects in the cerebral venous system
However MRI includes diffusion imaging of the brain parenchyma and modern MR venography (MRV) can be comparable to CTV in accuracy. Intraventricular hemorrhage in term infants suggests CSVT.
Clinical Presentation of Hemorrhagic Stroke?
Acute hemorrhages may feature instantaneous or thunderclap headache, loss of consciousness, and nuchal rigidity in addition to focal neurologic deficits and seizures.
HS can be rapidly fatal.
In bleeds associated with vascular malformations, pulsatile tinnitus, cranial bruit, macrocephaly, and high-output heart failure may be present.
Diagnosis of Hemorrhagic Stroke
Diagnosis relies on imaging, and CT is highly sensitive to acute HS. However lumbar puncture may be required to exclude subarachnoid hemorrhage.
Modern MRI is highly sensitive to even small amounts of acute hemorrhage and it images residual blood products long-term following most parenchymal bleeds
What is the most common cause of epidural hematoma?
Epidural hematoma is nearly always due to trauma, including middle meningeal artery injury typically associated with skull fracture.
What is the most common cause of a subdural hematoma?
Subdural hematoma can occur spontaneously in chil- dren with brain atrophy due to stretching of bridging veins
Causes of Hemorrhagic stroke
Causes of HS include vascular malformations and systemic disorders
Arteriovenous malformations (AVM) are the most common cause of childhood subarachnoid and intrapa- renchymal HS and may occur anywhere in the brain.
A common cause for HS is bleeding from a preexisting brain tumor.
Arterial diseases that usually cause ischemic stroke can also predispose to HS including the central nervous system (CNS) vasculitides and moyamoya disease.
Treatment for Hemorrhagic Stroke
- emergent neurosurgical intervention
- Reversal of anticoagulant therapy may be required (e.g., vitamin K, fresh frozen plasma)
Best imaging modality for neonatal stroke
- Cranial ultra- sound can detect most significant neonatal bleeds. In the preterm infant, germinal matrix bleeding and intraventricular hemorrhage are common.
Subarachnoid and subdural blood may be imaged in up to 25% of normal term newborns.
