volume 1 Flashcards
1
Q
What headache types are considered primary
A
migraine, tension-type, cluster
2
Q
What headache types are considered secondary
A
- medication overuse
2. intracranial pathology - ie IIH, pseudotumor cerebri, CHiari, meningitis
3
Q
Is trigeminal neuralgia common in children
A
no
4
Q
What are two differences between childhood and adult migraine?
A
in children, less likely to be unilaterall and shorter in duration
5
Q
Please name 5 red flags for increased ICP as the cause of headache
A
chronic progressive headaches may indicated increased ICP
1. new headache, change in pattern
2. very severe that wakes from sleep
3. worse in the morning
4. worse with coughing and straining
5. nausea or vomiting
always do fundoscopy in patients with headache
(distinguish between chronic progressive (more worrisome) and chronic non progressive
6
Q
What are two causes of chronic non progressive headaches
A
- chronic tension-type headache
- chronic daily migraine
- stress
- medication overuse
7
Q
What questions should you ask for a headache history
A
number and type location character duration frequency aura photo/phonophobia nausea/vomigin alleviating factors -ie sleep exacerbating factors -dehydration, skipping meals caffeing intake ** exercise frequency, sleep schedule, medication use, relationship to menses, family history
8
Q
A child has been having daily headaches for the past 7 months, they have not gotten worse, there are no red flags. the neuro exam including fundoscopy and blood pressure are normal. The 10 year olds mother has migraines. Do you image them?
A
Oski says - >6 month history of headaches with normal neuro exam including fundoscopy and blood pressure, and positive family history of migraine (no indication to image)->i.e. you can treat as migraine
9
Q
Please name 3 migraine variants in children
A
- cyclical vomiting
- abdominal migraine
- benign paroxysmal verigo
10
Q
Please describe treatment of migraine
A
- lifestyle factors - i.e. sleep, caffeine, meds, hydration etc - start by addressing those
- abortive therapies - NSAIDS (ibuprofen or naproxen) or a triptan (nasal sumatriptan) **hoever triptans NOT approved for children < 17 years, and may interact with SSRIS
- prophylactic treatment; consider if frequent and disruptive (not easily treated or missing school), consider the following options:
- young children : cyproheptadine
- teenagers : amitriptyline
- overweight : topiramate
- boys without weight issues or with mood problems - >valproic acid at bedtime
- beta blockers and calcium channel blockers can also be used in children
11
Q
Please name 5 signs of cerebellar dysfunction
A
- truncal ataxia - i.e. wide-based gait - when severe can include head bobbing (aka titubation)
- dysmetria -
- nystagmus
- vertigo
- scanning speech - (words separated into syllables)
**watch for CN involvement - could suggest schema in the posterior circulation of the brain (off the vertebral arteries)
time course impotent - acute vs gradual, episodic vs continuous
12
Q
A child presents with acute onset ataxia. What is your differential?
A
acute onset:
intoxication - ie phenytoin overdose
infection - ie bartonella
post infectious - i.e. toddler with recent URTI, before lots after VZV infection
post vaccination
Demyelinating events:
- ADEM, childhood MS, Miller-Fisher variant of GBS (should have associated eye movement abnormalities and areflexia)
migraine (vestibular migraine can present with ataxia and vertigo, not always associated with headache
13
Q
A child presents with subacute onset ataxia, what is your differential?
A
- cerebella hemorrhage or ischemic stroke
- encephalitis
- acute labyrinthitis (vestibular neuritis)
- posterior fossa tumours
- paraneoplastic - opsoclonus-myoclonus with multidirectional chaotic eye movements
14
Q
A child presents with chronic and progressive ataxia. Differential/
A
- Developmental defects
- tumours
- paraneoplastic
- Genetic aetiologies:
- spinocerebellar ataxias
- Friedreicha ataxia
- Ataxia telangiectasia
15
Q
What are causes of recurrent ataxia?
A
- Episodic ataxias (EA1 and EA2 with AD inheritance)
- metabolic disorders:
- mitochondrial, Hartnup disease (affects absorption of tryptophan), urea cycle defects, maple syrup urine disease (intermittent forms)
16
Q
Which type of imaging is bet to look at posterior fossa lesions?
A
MRI is better for posterior fossa lesions or demyelination
CT is a good primary study to rule out hemorrhage
for ataxia may consider also doing a tox screen, LP if infectious consideration
17
Q
What is the typical age of onset for tics?
A
typical age of onset around 7 years old often wax and wane worse with stress and fatigue some kids will have a premonitory sensation (i.e. sense of an "itch" relieved by tic) involuntary
18
Q
What are two common co-morbidities of tic disorders?
A
OCD
ADHD
19
Q
How long does someone need to have a motor or vocal tic to be considered chronic?
A
> 1 year
20
Q
What is the criteria to diagnose Tourette’s
A
- combo of motor (i.e. blinking, shrugging shoulders) and vocal (grunting coughing) tics
- onset before age 18
- at least 1 year in duration
- causing distress or impairment in functioning
21
Q
What are two first line treatments for tic disorders?
A
treat if physical discomfort or psychosocial distress.
1st line: clonidine or guanfacine
2nd line: haloperidol, pimozide
22
Q
How many cases of tic disorders will remit or be substantially better by adulthood?
A
2/3
1/3 will persist
23
Q
Which has a earlier age of onset, stereotypes or tics?
A
stereotypes earlier onset (ie hand flapping) MORE when child is relaxed or engrossed associated with autism - also seen in normal children reassure the parents
24
Q
What is spasmus nutans?
A
odd head positions, head bobbing and nystagmus
benign self-limited condition during infancy
should do brain imaging to rule out optic pathway and thalamic gliomas
https://www.youtube.com/watch?v=K0RjK2aMSwU
25
Are tremors at rest common in children?
nope, tremors at rest are rare in children
| need to distinguish between tremor at rest and action tremor
26
Name two meds that can cause a tremor
valproic acid
lithium
cause enhanced physiologic tremor
27
What is the inheritance pattern of familial essential tremor?
autosomal dominant
worsens with age
alcohol improves it for some
usually don't treat till adulthood (with beta-blocker such as propanolol) as long as they can write and feel themselves
28
Please name 5 causes of chorea
1. kernicterus
2. juvenile huntington disease
3. choreoathetoid CP
4. Wilson disease
chorea, random movements that flow with each other
can occur with athetosis (twisting/writhing movements of the distal extremities)
29
What are some treatment options for chorea and how do they work?
mechanism: increased GABA or block dopaminergic signalling
| valproic acid, carbamazepine, diazepam, haloperidol
30
What are 3 potential neurological side effects of atypical neuroleptics?
1. tadive dyskinesia - after prolonged use, involuntary mouth movements (including tongue)
2. withdrawal dyskinesias from abrupt withdrawal
3. akathisia - urge to move constantly
31
A child presents with random movements that flow into one another. They have a recent history of sore throat and fever. What is the likely diagnosis?
Sydenham chorea - immune mediated response following group A strep infection
one of the major criteria of acute rheumatic fever
if suspect it, send ASO tiger and DNase B
Treatment: penicillin, steroids may hasten recovery (CPS statement on this, use that for treatment answer etc)
32
What are 2 imaging findings of head imaging in Tuberous sclerosis ?
1. calcifications adjacent to the walls of the lateral and third ventricles (CT best)
2. multiple gliotic nodules - hamartomas
can also get tumours, which complicate the picture**note from Zitellli, combined sources
presenting factor - most common is seizures (i.e. infantile spasms)
other findings: ash leaf spots, fibromas, shagreen patch , adenoma sebaceous
33
Causes of pseudo tumour cerebra
| treatment
```
Causes:
- Medications: topical retinoic acid, tetracycline, OCP, steroids, nitrofurantoin, high vitamin A
- Obesity
- Hyperthyroid, hypoparathyroid, Cushing
- Thrombosis
- OM, with thrombosis
Treatment
1. remove the drug
2. lose weight
3. acetazolamide/topamax
4. serial LP
```
34
Factors that increase the chance of being seizure free from absence seizures?
1. no generalized tonic-clonic
2. developmentally normal
3. normal neuro exam
4. no family history of seizures
5. normal EEG
35
83. Young child with failure to thrive, delayed speech, voracious appetite, hugs you on first visit:
```
Diencephalic syndrome
Emaciation
Euphoria
Emesis
**PREP question
```
36
What are causes of megalencephaly
```
megalencephaly - increase in brain substance
Causes:
1. Soto syndrome
2. achondroplasia
3. neurocutaneous syndromes
4. lipidoses
5. leukodystrophies
6. mucopolysaccharidoses
```
37
What are the different causes of macrocephaly?
macrocephaly > 2 SD of the mean for age gender and gestation
DDx:
hydrocephalus
mass
thickening or enlargement of the skull (primary skeletal dysplasia)
true increase in brain substance (megalencephaly)
**see chart pg 597 Zitelli
38
What are the cardinal manifestations of brainstem glioma?
cranial nerve palsies
contralateral hemiplegia
ataxia
increased ICP is NOT AN EARLY FEATURE
39
What is the major identifiable cause of infantile spasms
Tuberous sclerosis is the major single/identifiable cause of infantile spasms, 7-25% of cases
EEG: hysarrhythmia, burst suppression in sleep
40
What is the most common cause of chorea in children
Sydenham chorea, weeks-months after strep infection, also have emotional lability and hypotonia, can have effect on school
recurrences may be triggered by new episodes of streptococcal infection, pregnancy or OCP
Other less common causes: wilson disease, Huntington disease, SLE and hyperthyroidism
41
name 6 factors that can contribute to neural tube defects
hyperthermia, drugs (valproic acid), malnutrition, chemicals, maternal obesity or diabetes, genetic determinants can adversely affect CNS development
abnormal maternal nutrition or exposure to radiation
42
When does the neural tube close
between 3rd and 4th week of development (rostral, day 23, caudal day 27)
nervous system originates fom ectoderm (which also makes the skin)
fist, open at both ends, then closes outwards (for a bit, it is open to the amniotic cavity)
43
What are two biochemical markers of an open neural tube
1. alpha fetoprotein
2. acetyl cholinesterase
prenatal screening of maternal serum for AFP in the 16th-18th week is an effective method to ID pregnancies at risk of fetuses with neural tube defects
44
True or false - most patients with spin bifida occult are asymptomatic
true - common anomaly of mideline defect of vertebral bodies, without protrusion of the spinal cord or meninges, normal spinal cord
45
What are some manifestations of occult spinal dysraphism?
cutaneous manifestations:
hemangioma, discolouration of the skin, pit, lump, dermal sinus or hairy patch
occult spinal dysraphism is a clinically more significant form of spin bifid a occulta. no abnormality of meninges, spinal cord or nerve roots . defect in closure of the posterior vertebral arches and lamina at L5-S1
associated with: syringomyelia, riastematomyelia and tethered cord
46
What is a meningocele
when the meninges herniate through a defect in the posterior vertebral arches
usually NORMAL spinal cord (can have tethering, syringomyelia or diastemetaomelia)
fluctuant midline mass that might transilluminate
most are well covered
47
What is the best test to investigate occult spinal dysraphism? (i.e. a child has a hair patch at the base of the spine)
1. best test MRI
| 2. initial test in neonate - US
48
A patient is found to have a meningocele and is being prepared for surgical correction. What are steps in your investigation?
most are well covered, no immediate threat
complete neurological exam very important
if kids are asymptomatic, sometimes can delay or not perform repair
Exams: X ray, US and MRI to look at neural tissue involvement
Urology - CMG - to look for neurogenic bladder
CT/MRI head: association with hydrocephalus in some cases
49
What are indications for immediate surgery in meningocele?
1. leaking CSF
2. thin skin covering
to prevent meningitis
50
What are the symptoms of an anterior meningocele?
projects into pelvis
1. constipation
2. bladder dysfunction
female patients->may have associated anomalies of the genital tract - rectovaginal fistula, vaginal septa
51
Which is the most severe form of spinal dysraphism?
Myelominingocele
1/4000 births
open form, includes the vertebral column and spinal cord
52
A mother of your patient with myelomeningocele is considering getting pregnant again. What is her chance of having another child with myelomeningocele?
3-4% after one affected child
10% with 2 prior affected children
**genetic predisposition exists
epidemiologic evidence and presence of family hx of anencephaly, myelomeningocele and cranioachischisis indicate heredity
53
How much does taking folic acid reduce the incidence of NTDs?
by at least 50% (CPS says 60-70% old statement)
should take folic acid before conception and continue until at least the 12th week of gestation, when neurulation is complete
54
When is the neural tube done forming?
12th week - neurulation is complete, so need to take folic acid until at least then
dose is 0.4 mg folic acid daily
55
Your patient above wants to know how much folic acid she should take.
4 mg of folic acid daily, starting 1 month before planned conception for high risk women
(not high risk, 0.4 mg folic acid daily) starting before conception until week 12
diet provides about half the daily requirement of folic acid (since we have fortification since 1998)
56
Which drugs can increase the risk of myelomeningocele
1. TMP antagonize folic acid)
2. antiseizure meds: carbamazepine, phenytoin, phenobarbital, primidone (since these antagonize folate)
3. valproic acid - causes NTDs in 1-2% of pregnancies when administered during pregnancy
57
What are the symptoms of a low sacral myelomeningocele
bowel and bladder incontinence, anesthesia in the perineal area, no impairment of motor function
amount of symptoms for myelomeningocele depends on the location, lumbosacral are 75%
58
What will you see on physical exam of a mid lumbar/high lumbothoracic myelomeningocele
1. flaccid paralysis of the lower extremities
2. absent DTRs
3. lack of response to touch and pain
4. high incidence of lower extremity deformities
- clubfeed, ankle/knee contractors, subluxation of the hips
5. GI/GU: - drbbling and relaxsed anal sphincter, others don't leak and have high pressure bladder
above the mid lumbar/high lumbothoracic region - >lower motor neurone - disturb the conus medullar is and above spinal cord structures
as goes into thoracic region, can get
6. kyphotic gibbus
59
True or false - myelomeningocele in the upper thoracic or cervical region have significant neurologic deficit and hydrocephalus
false - on place says more symptoms higher up, another says less - they usually have minimal neurologic deficit, usually no hydrocephalus
can have neurogenic bladder and bowel
60
How many patients with myelomeningocele will develop hydrocephalus?
malformation in 80% in association with CHiari II malformation lower risk of hydrocephalus if the deformity is lower down
61
A 6 month old with a history of myelomeningocele presents to ER with bulging anterior fontanel, dilated scalp beings, sun-setting eyes , irritability and vomiting, as well as increasing head circumference. What diagnosis must you consider?
hydrocephalus must always be considered
| no matter what the spinal level of the myelomeningocele
62
What are symptoms of hindbrain dysfunction
difficulty feeding, choking, stridor, apnea, vocal cord paralysis, pooling of secretions and spasticity of the upper extremities ->can lead to death if untreated
occurs in 15% of infants with hydrocephalus and Chiari II malformation
63
management of myelomeningocele:
multi D team
Surgical interventions:
surgery within a day or so but can be delayed to help parents (except when leak) t
evaluate for other congenital abnormalities
evaluate for renal function
after repair - shunting for hydrocephalus (in most), if hindbrain dysfunction, early surgical decompression
treat clubfeet, hips
Prevention/chronic issues:
1. bladder issues: teach catheterization - very important, prevent renal disease
use latex free equipment
periodic urine culture and assessment of renal function depending on risk
2. incontinence - doesn't have organ damaging risks, but socially important, occasionally get fecal impaction or megacolon ; can bowel-train with enemas or suppositories
3. ambulation: depends on where the lesion
lumbosacral - most get to functional ambulation2 ambulate with help
higher lesions - 1/
64
A patient with myelomeningocele is having deterioration of ambulatory function at the age of 10. what should you do?
refer for evaluation of tethered spinal cord and other neurosurgical issues, sine he is pre-adolescent
in teenagers, often see deterioration in function because of increased body mass
65
What is the mortality rate of myelomeningocele?
10-15%
| most die before age 4
66
True or false - most survivors with myelomeningocele have normal cognitive function
true 70% of survivors have normal cognitive function
do have increased seizures and learning problems
if someone has lots of infections, negatively affects cognition
67
What is the difference between encephalocele and meningocele
2 forms of skull dysraphism -
meningocele - CSF filled meningeal sc
encephalocele - contains sac plus brain
1/10 as common as those involving the spine
68
A child has a cranial encephaloele, why are they at increased risk of hydrocephalus?
increase risk of hydrocephalus because of
1. aqueductal stenosis
2. chiari malformation
3. dandy-walker syndrome
encephalocele bad prognosis, cranial meningocele reasonable prognosis
69
What are children with encephalocele at increased risk of ?
1. hydrocephalus (poorest prognosis with neural tissue in the sac and associated hydrocephalus)
2. vision problems
3. microcephaly
4. MR
5. seizures
70
What is Meckl-Gruber syndrome:
```
associated with cranial encephalocele
AR condition
occipital encephalocele
cleft lip or palate
microcephaly
microphthalmia
abnormal genitalia
polycystic kidneys
polydactyly
```
71
diagnosis of encephalocele in utero
serum AFP and biparietal diameter
72
Which anomalies are associated with anencephaly?
```
hypoplastic pictuitary
folding of the ears
cleft palate
congenital heart defects - 10-20%
most die within several days of birth
```
73
What is the recurrence risk of anencephaly?
4% with one previous, 10% with 2
74
True or false - anencephaly is associated with polyhydramnios?
true, 50% have associated polyhydramnios
couples with previous anencephaly should have monitoring of successive pregnancy:
1. amnio, AFP levels, ultrasound between 14-16th week
75
Which causes increase the chance of anencephaly
1. low SES
2. nutritional/vitamin deficiency
3. environmental/toxic factors
genetics
overall incidence has been decreasing
76
What are the disorders of neuronal migration?
1. lissencephaly - agyria - absence of cerebral convolutions, looks like a fetal brain ; faulty migration in early life
2. schizencephaly - unilateral/bilateral clefts within the cerebral hemispheres (may be confused with porencephalic cyst)
3. neuronal heterotropias -
4. polymicrogyria = augmentation of small convolutions - associated with epilepsy
5. focal cortical dysplasias - associated with epilepsy
6. porencephaly: cysts/cavities in the brain,
77
What is the clinical presentation of lissencephaly
1. failure to thrive
2. microcephaly
3. marked developmental delay
4. severe seizure disorder
5. Ocular problems: include hypoplasia of the optic here and microphthalmia
associated with miller-Dieker syndrome (chromosome 17)
78
What is the clinical presentation of schizencephaly?
1. MR
2. seizures
3. microcephaly
4. if bilateral:
-get spastic quadriparesis
-septic optic dysplasia
- endocrinologic disorders
**controversial whether genetic causes exist
if unilateral, get congenital hemiparesis
79
What is the clinical presentation of porencephaly?
aka cysts in the brain
1. MR
2. spastic hemiparesis or quad
3. optic atrophy
4. seizures
80
What are risk factors for porencephaly?
1. hemorrhagic venous infarctions
2. thrombophilias - including protein C deficiency, factor V leiden
3. perinatal alloimmune thrombocytopenia
4. cWD
5. maternal warfarin use
6. maternal cocaine
7. congenital infections
8. trauma (including amnio)
9. matneral abdominal trauma
genetics: COL4A1
81
What is Aicardi syndrome?
a genesis of the corpus callosum, chorioretinal lacunae (distinctive), and infantile spasms
MR
abnormal vertebrae
almost all female patients
82
True or false - corpus callosum is always associated with significant neurologic abnormalities
false - it is not
dependson the 'company it keeps"
when accompanied by migration defects - hav significant abnormalities, when isolated, may be normal
83
true or false - all patient with holoprosencephaly have severe outcomes
false - not always
originates from defective formation of the prosencephalon, and inadequate induction of forebrain structures
spectrum of severity
in severe caess - other issues with median facial structures - i.e. one eye, one tooth, etc
alobar type is bad, the others are n't as bad
associated with chromosomal abnormalities, sonic hedgehog gene
84
What are the components of the posterior fossa
1. brainstem
2. cerebellum
3. CSF spaces
85
What is the most common posterior fossa malformation?
Chiari malformation - most common of the posterior fossa and hindbrain
herniation of the cerebellar tonsils through the foramen magnum
often also associated small posterior fossa (because of skull shape)
86
What are some complications of Chiari malformation
can be asymptomatic or symptomatic
symptoms in late childhood when they happen
1. brainstem complression ->increased ICP, diplopia, oropharyngeal dysfunction, tinnitus and verigo
2. obstructive hydrocephalus/syringomyelia (spinal cord cyst)
87
Name the posterior fossa disorders
1. CHiari
2. Dandy-Walker
3. Arachnoid cysts
4. Joubert syndrome
5. Rhomboencephalosynapsis - absent or small vermis
6. Lhermitte-Duclos disease
7. Pontocerebella hypoplasia
88
What is Dandy-Walker malformation
1. continuum of posterior fossa anomalies, include cystic dilation of the fourth ventricle, hypoplasia of the cerebella vermis, hydrocephalus and enlarged posterior fossa
2. extracranial anomalies
3. neuo impairment varies
89
What is the aetiology of Dandy-Walker malformation?
1. chromosomal abnormalities
2. single gene disorders
3. exposure to teratogens
90
How may arachnoid cysts of the posterior fossa present?
can be associated with hydrocephalus
91
A child presents with hypotonia, ataxia, episodic apnea and hyperpnea, global developmental delay, nystagums, strabismic and oculomotor apraxia, as well as liver fibrosis and congenital heart disease What diagnosis dose this suggest?
Joubert syndrome
- autosomal recessive disorder
- cerebell vermis hypoplasia
pontomesencephalic"molar tooth sign".
presents as described
can also have associated systemic features including:
progressive retinal dysplasia, coloboma, congenital heart disease, micro cystic kidney disease, liver fibrosis, polydactyly, tongue protrusion, and soft tissue tumors of the tongue
92
What type of disorder is Walker-Warburg syndrome
pontocerebellar hypoplas - a group of diseases with impairment of cerebella and pontine development
93
What is the definition of microcephaly
>3 SD below mean for age and sex
Primary - genetic
Secondary - non genetic
94
Syndromes with microcephaly
Down syndrome, edward (T18), Cri Du chat, Cornelia de Lange, Rubinstein Taybi, Smith-Lemli-Opitz
95
Drugs with microcephaly
| Infections with microcephaly
alcohol
dilantin
Infections: TORCH infections
96
Which of the primary genetic causes of microcephaly is associated with severe MR?
familial (autosomal recessive ) is associated with bad seizures and severe MR
the autosomal dominant form only has mild MR< and readily controlled seizures
97
True or false - a 2.5 year old sustains a significant anoxic brain injury. They are likely to be microcephalic later in life
false - it is usually an insult before age 2 that is most likely to cause microcephaly
98
True or false- high phenylalanine levels can lead to microcephaly
true - if can't determine cause of microcephaly, do this test because high phenylalanine in mom can cause brain damage in otherwise normal kid
99
Which children with a first febrile seizure should have an LP done?
<12 months - should do it, may not have other signs of meningitis
consider it for 12-18 month olds
if older, only if other signs
seizures are the major sign of meningitis in 13-15% of children presenting with it, and 30-35% of children have no other meningeal signs
100
Risk factors for recurrence of febrile seizures
Major: age <24 hour, fever 38-39 C
Minor: fhx of febrile seizure/epilepsy, complex febrile seizure, day care, male gender, lower serum sodium
101
A child has a simple febrile seizure. they are developmentally nomad. What is their chance of subsequently developing epilepsy.
1% risk of subsequent epilepsy with simple febrile seizure
| 4% risk with recurrent febrile seizure (see table 586-6
102
What is the risk of recurrent febrile seizure
30% after 1st episode, 50% after 2 or more episode, 50% in <1 year old
103
If an EEG is indicated after a febrile seizure, when should you do it?
ideally, you should do it >2 weeks after, since within 2 weeks of febrile seizure EEG often shows non specific slowing
should do it with wakefulness AND sleep
104
work up of febrile seizure (simple)
do LP if t need EEG, neuroimaging or bloodwork routinely
105
True or false - antipyretics reduce the chance of febrile seizure
false - they don't because the seizure occurs as the temp is rising
106
true or false - iron deficiency is associated with increased risk of febrile seizures
true - so screening and treating for it seems appropriate
107
name 2 syndromes associated with febrile seizures
```
generalized epilepsy with febrile seizures
Dravet syndrome (aka severe myoclonic epilepsy of infancy)
```
108
What is the most common type of craniosynostosis
sagital
| more common in males, can have CPD
109
What suture is most commonly craniosynotsed in Apert syndrome
coronal sutuer
| this is also the one involved in Crouzon disease
110
How much CSF in an infant? in an adult
50 ml in infant, 150 in adult
produce 20 ml/hr of CSF
hydrocephalus - communicating (not blocked, more fluid) or non communicating (i.e. blocked)
111
Which type of Chiari malformation more likely to present in infancy and is associated with hydrocephalus?
type II associated with hydrocephalus and
also have myelomeningocele with these
Type 1; symptoms in adolescence or adult life, not associated with hydrocephalus. recurrent headache, neck pain, urinary frequency and progressive lower extremity spasticity.
112
A patient has hydrocephalus and multiple cafe au lair spots. what is the likely type of hydrocephalus
non communicating from aqueductal stenosis (this is associated with neurofibromatosis)
113
3 historical factors that can suggest aetiology for hydrocephalus
1. prematurity with IVH (SAH apparently most common cause)
2. meningitis
3. mumps encephalitis
can have some familial cases
114
A child has hydrocephalus and a cranial bruit. What is the diagnosis
vein of galen malformation
| blocks the drainage - non communicating hydrocephalus
115
A child has hydrocephalus and chorioretinitis. What does this suggest?
suggests inter uterine infection (i.e. todo) as the cause
116
True or false - papilledema is a significant sign of ICP in infants
false - rare in infants because the sutures will separate with increased pressure
117
True or false- should have a big head in Sotos syndrome
true - most common cause of megalencephaly (i.e. too much brain)
other characteristics:
high forehead with frontal bossing, sparse hair, down slanting palpebral tissues, hypertelorism (apparent), long narrow face, prominent mandible, malar flushing
hypotonia, poor coordination and speech delay are common
most have MR (mild->severe)
118
true or false - cause of craniosynostosis usually known?
false-usually unknown, genetic in 10-20%
119
Definition of Epilepsy:
2 or more seizures separated by at least 24 hours
120
What is the side effect of vigabatrin
retinal toxicity
visual field defecs
can also get hyperactivity
treamtent for infantile spasms (also used ACTH)
121
Treatment for focal seizures/epilepsies
1st line oxcarbazepine and carbamazepine
122
treatment of absence seizures
ethosuximide
alternative: valproate, lamotrigine
EEG better to monitor therapy
123
treatment for juvenile myoclonic epilepsy
valproate and lamotrigine, rufinamide (new)
124
treatment of dravet syndrome
valproate
| benzos is clonazepam
125
Which children are at increased risk of liver toxicity from valproic acid
<2 year old
polytherapy
metabolic disorders (if suspecting these, consider a different drug, and rule out metabolic first)
Side effects of valproic acid: hepatic and PANCREATIC toxicity, low platelets
Other: weight gain, hyperammonemia, tremor, alopecia, menstrual irregularities
126
Side effects of carbamazepine
Serious: SJS, agranulocytosis, aplastic anemia, liver toxicity
Annoying: tics, transient leukopenia, hyponatremia, weight gain, nausea/dizzy
table586-13
127
Side effects of lamotrigine
Serious: SJS (rarely liver toxicity)
Nuisance: CNS side effects, headache, ataxia, dizzy, tremor (usually less than other AED)
128
Side effects of levetiracetam:
CNS: somnolence, asthenia, dizzy ; in adults depressive mood, in children behavioural symptoms
129
Side effects of phenobarb
serius: liver toxicity, SJS, Other: Neurotoxicity
130
Side effects of phenytoin
gingival hyperplasia, coursing of facies, hirsutism, cerebellovestibular syndrome
SEs: SJS, liver toxicity
131
Side effects of Topiramate
serius: glaucoma
| Other; cognitive dysfunction, weight LOSS, renal calculi, fever , hypohydrosis
132
Monitoring for patient started on AED
1. SJS in the immediate time - more in chinese
2. bone health important - can get rickets with chronic AED treatment, counsel about sun and vitamin D
3. montior for severe hepatic injuries and death
4. FDA - increased suicide in adolescents with AEDs
5. consider interactions with other drugs
133
When in life are seizures most common
neonatal seizures most common
134
What types of seizures can be made worse with carbamazepine and/or phenytoin?
myoclonic and absence seizures can be made worse by these
135
side effects of ethosuximide
liver
rash
bone marrow suppression
136
treatment for partial seizure
```
carbamazepine
clobazam
phenytoin
phenobarb
gabapentin
```
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Treatment of generalized seizures
1. valproic acid
2. lamotrigine
3. keppra - aka leviteracetam
4. topamax- aka topiramate
