Download Approach to Common Consults - R Benini 08 04

Emergency Lecture Series
Approach to
Common Pediatric
Neurology Consults
A Case-Based
Approach
Ruba Benini
Pediatric Neurology (PGY2)
McGill University
4/August/2010
Outline
 Febrile seizures
 Afebrile Seizures (Childhood epilepsy syndromes)
 Headaches
 Ataxia
 Hypotonia
Case 1 :
14mo bb girl, history of irritability and lethargy for 3days. Brought to ER by
parents because of sudden episode of body stiffening followed by limpness
and fine shaking of all extremities for 1min. In ER, BP=75/50; HR= 150/min;
RR=40/min; T=38.6C rectal; O2 sat=98% RA.
Case 2:
14mo bb girl, history of irritability and lethargy for 3days. Brought to ER by
parents because of sudden episode of body stiffening followed by limpness
and fine shaking of right arm and leg lasting 20min. In ER, BP=75/50; HR=
150/min; RR=40/min; T=38.6C rectal; O2 sat=98% RA.
Case 3:
14mo bb girl, ex-34weeker, known seizure disorder, on Frisium, history of
irritability and lethargy for 3days. Brought to ER by parents because of
sudden episode of body stiffening followed by limpness and fine shaking of
all extremities for 1min. In ER, BP=75/50; HR= 150/min; RR=40/min;
T=38.6C rectal; O2 sat=98% RA.
Approach to
Febrile Seizures
 Febrile seizures are defined as seizures that occur in association with fever, in the
absence of CNS infection (meningitis, encephalitis) and in patients with no history of
previous afebrile seizures
 Occur in 3-4% of children between 3months – 6 years (peak age 18-24months)
 High recurrence (30-40%)
 10% of children experience  3 febrile seizures
 Factors that increase risk of occurrence include:




Young age at time of first febrile seizure (<18months)
Family history of in first degree relative
Low degree of fever while in the emergency department
Brief duration between onset of fever and the first seizure
 Etiology – genetic predisposition
 40% concordance rate for monozygotic twins versus 7% for dizygotic twins
 8% if sibling with febrile seizures, 22% if sibling + parent
 Mode of inheritance: polygenic vs autosomal dominant with variable penetrance
Approach to
Febrile Seizures
Classification
Simple (typical)
Complex (atypical)
•Generalized
•Focal
•<15min in duration
•>15min in duration
(status epilepticus)
•No recurrence in a
24hr period
•Normal
neurological status
before seizure
•Multiple episodes in
a 24hr period
•Abnormal
preexisting
neurological status
before seizure
 Risk of developing epilepsy in general population: ~1%
 Not increased with simple febrile seizures except might be mildly increased if multiple
episodes, FHx of epilepsy, and age <12months at first seizure
 Increased to 2.4% with atypical febrile seizures
 Risk of epilepsy increased with the presence of each atypical feature:
•
•
•
•
One atypical feature – 3%
Two atypical features – 6%
Three atypical features – 9%
Four atypical features – 12-15%
Approach to
Febrile Seizures
 Treatment of febrile seizures and prevention of recurrences does not alter risk of later
possible epilepsy - routine use of AEDs not recommended.
 Parents can be advised to use anti-pyretics for comfort care, but there is no evidence
that it prevents recurrence of febrile seizures
 Intermittent benzodiazepine can be used when recurrence is expected; excessive
parental anxiety
 Nitrazepam (Mogadon)
< 2years 1.25mg TID
>2years 2.5mg TID
 What investigations are necessary:
 Simple febrile seizures: nothing
 Complex febrile seizures: EEG ± neuroimaging
 What do parents want to know:





Is this harmful
Will it happen again
Can I prevent it?
Will my child develop epilepsy
Will it go away?
(Minimum 3days or until fever subsides)
Case 4 :
8 year old boy, developmentally normal, with previous history of febrile seizures
(5 febrile seizures since age of 1), presenting with generalized tonic-clonic
seizure lasting 1 minute in the context of a febrile illness.
Case 5:
3year old boy, with history of 5 febrile seizures in the past. First febrile seizure
was atypical, at age of 7months. Subsequent seizures have different
semiology (atonic,myoclonic). Was meeting developmental milestones until
~1.5years ago when he began to deteriorate with regression in
development. Myoclonic jerks at age 18months.
Approach to
Febrile Seizures
 Consider other entities when febrile seizures :
 Occur very frequently; or
 Past the conventional age of 6 years (sometimes 7 or 8 years is used as upper limit); or
 In the context of deteriorating development
Severe Myoclonic Epilepsy of Infancy
(Dravet Syndrome)
•Intractable epilepsy
•Begins in first year of life usually with
prolonged hemiclonic febrile seizures
•Over time seizures evolve into febrile/afebrile
generalized seizure types (myoclonic, atypical
absence and partial complex) which rapidly
become refractory to AEDs
Generalized Epilepsy with Febrile
Seizures Plus (GEFS+)
•Febrile seizures begin in usual age range but
persist beyond 6 years of age
•Different seizure phenotypes may develop:
myoclonic, atonic, astatic, or partial complex
seizure
•Mutations in SCN1A, SCN2A, SCN1B,
GABRG2
•Myoclonic jerks between 12-36months
•Prior to onset of seizures child is
developmentally normal ataxia, psychomotor
regression, mental retardation
•EEG initially normal generalized spike wave
abnormalities
•70% have mutation in SCN1A
Avoid AEDs that block Na channels: lamotrigine, CBZ, oxcarbazepine, phenytoin
Rx: clobazam, VPA
Stafstrom 2009
Approach to
Febrile Seizures
Outline
 Febrile seizures
 Afebrile Seizures (Childhood epilepsy syndromes)
 Headaches
 Ataxia
 Hypotonia
Approach to
Afebrile Seizures
Seizure
Provoked
Unprovoked
•Electrolyte abnormalities
•Infection (meningitis)
•Trauma
•Toxic ingestion
Does it fit any of the
Childhood Epilepsy
Syndromes?
•Vasculitis
•Semiology of seizures
•Inborn error of metabolism
•Age of onset
•CNS tumour
•EEG features
•Clinical features/progression
•History
•Exam
•Investigations: lytes (Glc, Ca, P,
Mg); CBC; LP; tox screen, etc)
•Neuroimaging
•Response to Rx
•Prognosis
Approach to
Afebrile Seizures
Approach to
Afebrile Seizures
History
Serologies/TORCH
Preeclampsia/GDM/Infections
Substance abuse/meds
•Antenatal History
•Birth history
Antenatal U/S
Fetal distress
Apgars, Cord pH
Need for postnatal resuscitation
•Developmental history
Normal vs delayed vs regressed
•Family history
•PMHx (?CNS infections)
•Head trauma
•Seizure description (aura,
trigger, eyewitness
description)
Consanguinity, hx of febrile
seizures, epilepsy, developmental
delay, recurrent miscarriages, IEM
Approach to
Afebrile Seizures
Physical Exam
•Dysmorphism
•Stigmata of Neurocutaneous
disorders
•Neurological exam including
•HC
• developmental
•?Liver, heart involvement (IEM)
Approach to
Afebrile Seizures
Physical Exam
•Dysmorphism
•Stigmata of Neurocutaneous
disorders
•Neurological exam including
•HC
• developmental
•?Liver, heart involvement (IEM)
Approach to
Afebrile Seizures
Physical Exam
•Dysmorphism
•Stigmata of Neurocutaneous
disorders
Shagreen
patch (Tuber Sclerosis)
Hypopigmented macule
(Tuberous sclerosis)
•Neurological exam including
•HC
• developmental
•?Liver, heart involvement (IEM)
Café -au -lait macule
(Neurofibromatosis)
Port Wine Stain (Sturge=Weber)
Developmental Approach to Common Childhood Epilepsy Syndromes
ILAE 2009
Common Childhood Epilepsy Syndromes
http://www.ilae-epilepsy.org/Visitors/Centre/ctf/CTFsyndromes.cfm
Neonate (<28days)
Case 6 :
Called from NICU to rule out seizures in a 5day old baby boy, ex-34 weeker.
Unremarkable antenatal history except baby was born at 34weeks because
of PROM. GBS status unknown. No maternal fever. Mom received
antibiotics 5hrs prior to delivery which was by SVD. BB born with Apgars 7,9.
Cord pH 7.24. On DOL 1 baby started having apneic episodes lasting
10secs, associated with bradycardia and desaturation. Might have had one
episode of generalized tonic-clonic movements of extremities lasting 3secs.
Common Childhood Epilepsy Syndromes
Neonatal Period (<28 days)
 Seizures in newborns are often difficult to distinguish from normal activity
 Most commonly occur within the first week of life
 2/3 of neonatal seizures are due to Hypoxic-ischemic encephalopathy (HIE)
 Other causes: infection, electrolyte abnormalities, inborn errors of metabolism, structural
 The clinical and electroencephalographic features of neonatal seizures differ
considerably from those in older children and adults.
 Some seizures can be quite subtle making diagnosis difficult
 Important to note that in neonates 50%-80% of prolonged epileptiform discharges on EEG
are not associated with visible clinical changes
 This electroclinical dissociation is due to the Incomplete myelination of white matter tracts
and immaturity of regional brain interconnectivity
 Leads to only modest behavioural manifestations of seizures and explains why unlikely to get
tonic-clonic seizures in newborns
Feinichel
Common Childhood Epilepsy Syndromes
•Sudden jerking movements
during sleep only
•Can be stopped with gentle
restraint
•Normal EEG
•No Rx
•Excessive response to
stimulation
•Low frequency, high
amplitude shaking of limbs
and jaw in response to touch,
noise or motion
•Low threshold for Moro reflex
Feinichel
Common Childhood Epilepsy Syndromes
•Almost never a seizure
manifestation unless associated
with eye deviation, tonic stiffening
•Prolonged apnea without
bradycardia & with tachycardia is
a seizure until proven otherwise
•Often associated with
HIE
ILAE 2009
Common Childhood Epilepsy Syndromes
Approach to Neonatal Seizures
Hypoxic-Ischemic Encephalopathy
Epilepsy syndromes
Infection
Electrolyte abnormalities
Structural
Inborn errors of metabolism
Benign
Epileptic encephalopathies
Stroke
Feinichel
Common Childhood Epilepsy Syndromes
Neonatal Period (<28 days)
Benign Familial Neonatal Seizures
Benign Familial Neonatal-Infantile
Seizures
•FHx of seizures in first weeks of life
with no epilepsy or neurologic
abnormalities
•Onset between 6days of life to
3months
•Autosomal dominant, mutations in
voltage-gated K channels
•Seizures are partial in onset then
become generalized
•Brief multifocal clonic seizures
during the first week ±apnea
•Seizures stop spontaneously by age
12months
•Seizures stop spontaneously within
6weeks
•Healthy newborn, normal interictal
EEG, clinical events are associated
with flattening of the EEG
•Rx: Phenobarbital, then taper off
when seizure free for 4weeks
Feinichel
Common Childhood Epilepsy Syndromes
Neonatal Period (<28 days)
Epileptic encephalopathies :
seizures lead to severe cognitive and
behavioral impairment
Early Myoclonic Encephalopathy
•Erratic/fragmentary myoclonus that
typically is not associated with an
EEG correlate
•EEG shows burst suppression
pattern
•Usually normal MRI findings
Ohtahara Syndrome
(Early Infantile Epileptic Encephalopathy)
•Frequent extensor tonic spasms
•EEG shows burst suppression pattern
•Usually abnormal MRI findings
(lissencephaly, focal cortical dysplasia,etc)
•Medically intractable seizures
•Sometimes associated with certain
inborn errors of metabolism ex.
Nonketotic hyperglcemia, Menkes
disease, proprionic acidemia, etc
Chapman and Rho
Infant (<2yrs)
Case 7 :
8mo bb girl, developmentally normal, presents to ER with 3 weeks history
intermittent sudden jerky movements of the head and upper extremities, lasting
1-2secs, worsening over the course of the past 3 weeks. Multiple episodes a
day, sometimes in clusters. Resumes activity right after jerk with no apparent
alteration. No other unusual movements. Unremarkable perinatal history. No
FHx of epilepsy or other seizure disorders. Exam normal except for myoclonic
jerks noted. Video-EEG normal, with no associated changes during myoclonic
episodes.
Case 8 :
8mo bb girl, developmentally delayed, presents to ER with episodes of stiffening of
upper extremities and abduction of arms. Multiple episodes a day, sometimes
in clusters lasting 5-10min since 6months of age. Exam abnormal – unable to
sit without support, truncal and lower extremity weakness. Flexor spasms of
upper extremities noted. One hypopigmented macule on back. EEG shows
hypsarrhythmia with electrodecrimental changes associated with spasms. MRI
shows subcortical tubers.
Common Childhood Epilepsy Syndromes
Infancy (<2yrs)
Benign myoclonus of infancy
Benign myoclonic epilepsy
West Syndrome (infantile spasms)
Severe Myoclonic Epilepsy of
Infancy (Dravet syndrome)
ILAE 2009
Common Childhood Epilepsy Syndromes
Infancy (<2yrs)
Benign
myoclonus
of infancy
Benign
myoclonic
epilepsy
Age of
onset
Seizures
EEG pattern
Clinical
features
Rx
4 to
7months
Similar to infantile
spasms
Occur in clusters usually
around mealtime
Worsen over course of
next weeks/months then
stop spontaneously
Normal
Normal exam
None required
Myoclonic jerks
Spike & wave
(3cps)
4months2yrs
(head noddingsevere
enough to throw child
onto floor)
Normal
development
Resolves by age
2yrs
Polyspike & wave
(3cps)
Normal exam
VPA
Levetiracetam
Normal
development
Resolves by age
2yrs
Infantile
spasms
4 to
7months
Brief symmetric
contractions of neck,
trunk, extremities (flexor,
extensor, mixed)
Hysarrhythmia
Slow spike &
wave
Burstsuppression
Abnormal exam
ACTH
Vigabatrin
Abnormal
development
*Tuberous sclerosis
ILAE 2009
Common Childhood Epilepsy Syndromes
Infancy (<2yrs)
West Syndrome (infantile spasms)
•Triad of infantile spasms, hypsarrythmia on EEG,
and developmental arrest/regression
•Peak age of onset 3-7months
•Most common epileptic encephalopathy
•Etiologies:
•Cerebral dysgenesis
•Tuberous sclerosis
•Preexisting injury 2o ischemia, infection or
trauma
•Down syndrome
•IEM
http://www.youtube.com/watch?v=fEgAjCv7VQo&NR=1
ILAE 2009
Common Childhood Epilepsy Syndromes
Child (2yrs - adolescence)
Case 9 :
Healthy 7 year old boy, brought to ER because parents noticed unusual event after
patient went to bed. Heard gurgling noises from his room, found him sitting in
bed with right lower face jerking, excessive drooling and unable to speak.
Lasted 2min and was completely back to baseline. Developmentally normal.
Exam normal. EEG shows …
Case 10 :
Healthy 6year old girl, brought to ER because parents noticed unusual event.
Patient hurt herself whilst playing outside. Came indoors to mom, crying +++
then suddenly she stopped crying, eyes staring ahead, some blinking
movements. Lasted 5secs then she snapped out of it and continued crying.
Developmentally normal except parents report she is often “dans la lune”. Also,
teachers complain that her grades have dropped during this academic year and
that she continuously “stares off into space”. Exam completely normal.
Common Childhood Epilepsy Syndromes
Childhood
BECTS
Childhood Absence Epilepsy
Lennox-Gastaut
Landau-Kleffner
ILAE 2009
Common Childhood Epilepsy Syndromes
Childhood (2yrs – adolescence)
Benign Epilepsy with Centrotemporal spikes (BECTS/Rolandic epilepsy)
•Most common form of idiopathic epilepsy in childhood
•Peak age of onset: 5-10years (range 3yrs-13yrs)
•Developmentally & intellectually normal
•Strong genetic predisposition
•Seizures:
•brief (1-2min)
•infrequent
•10% of children will only have one seizure  Majority (70%) will seize 2-6x
•Majority have nocturnal seizures only
•Hemifacial clonic movements, speech arrest, dysarthria and excessive drooling
•Preceding paresthesias in mouth, gum, cheeks or lips may occur
•May have involvement of ipsilateral limbs or even generalization
ILAE 2009
Common Childhood Epilepsy Syndromes
Childhood (2yrs – adolescence)
Benign Epilepsy with Centrotemporal spikes (BECTS/Rolandic epilepsy)
•EEG
•Normal background in awake and sleep
•Epileptiform discharges: focal, diphasic spike-and-slow-wave discharges over
rolandic/centrotemporal regions; unilaterally or independentally bilaterally
•Horizontal dipole with maximum spike negativity over central/temporal regions and maximum
positivity over frontal region.
•Rx:
•Often not necessary unless frequent and disruptive to child’s life
•Carbamazepine, Clobazam
•Spontaneous resolution by adulthood (18yrs)
•*Neuroimaging if EEG findings are focal
ILAE 2009
Common Childhood Epilepsy Syndromes
Childhood (2yrs – adolescence)
Childhood Absence Epilepsy
•Idiopathic generalized epilepsy syndrome
•Age of onset: 4yr to 10 yrs (peak 5-7yrs)
•Onset before age 3yrs associated with an increased likelihood of neurodevelopmental
abnormalities & probably represents another epilepsy syndrome
•More frequent in girls
•Developmentally and intellectually normal children
•Seizures are brief (4-20secs) abrupt onset of impaired consciousness and unresponsiveness
•Typically sudden onset and interruption of activity with blank stare
•Abrupt end and child continues ongoing activity unaware that a seizure occurred
•If other seizure types present (myoclonic, atonic, tonic-clonic) then not CAE!
•Frequent (up to 100s/day)
•Provoked by hyperventilation in 90% of children
ILAE 2009
Common Childhood Epilepsy Syndromes
Childhood (2yrs – adolescence)
Childhood Absence Epilepsy
•EEG: ictal events show generalized symmetric 3HZ spike-wave discharges
•Prognosis – excellent
•Complete remission 2-6yrs after onset
•Rx: Ethosuximide, VPA
•However,
•Up to 30% can continue into adulthood, and these have a greater chance (40%) to get
generalized tonic-clonic seizures
•CAE can precede juvenile myoclonic epilepsy in 11-18% of cases
•Must be differentiated from Juvenile Absence Epilepsy (JAE)
•Older age of onset : 10yrs to 16yrs
•Infrequent absences with longer duration (>20secs)
•More likely to experience generalized tonic-clonic seizures
•EEG: 3.5Hz to 4Hz generalized spike-wave discharges
•Good response to Rx, but usually lifelong
http://www.youtube.com/watch?v=H3iLQi6wt94&feature=related
ILAE 2009
Common Childhood Epilepsy Syndromes
Childhood (2yrs – adolescence)
Lennox-Gastaut syndrome
•Intractable pediatric epilepsy
•Onset: 2 to 8yrs (peak 3 to 5years)
•Male predominance
•2/3 of cases are symptomatic i.e. have pre-existing brain abnormalities
•1/3 of cases have history of infantile spasms
•1/3 are cryptogenic affecting children who are initially developmentally & neurologically normal
•Classic triad:
•Multiple generalized seizure types (tonic, atonic, myoclonic, atypical absence)
•Interictal EEG: diffuse slow spike-wave discharges
•Cognitive dysfunction (which may not be present at onset)
•Poor response to AEDs (VPA, lamotrigine, topiramate)
•Ketogenic diet: significant reduction in seizures in 50% of patients
•Prognosis: poor with mental handicap in 80% of cases
ILAE 2009
Common Childhood Epilepsy Syndromes
Childhood (2yrs – adolescence)
Electrical Status Epilepticus in slow sleep (ESES):
•Comprises of 2 clinically related syndromes: Continous spike-wave in sleep (CSWS) and Landau
Kleffner syndrome
•Age of onset: 3 to 8 years
•Usually history of normal development with regression in preschool years
•CSWS: global regression, decreased intellectual level, poor memory, hyperkinesis, motor
impairment, psychosis
•LKS: acquired auditory agnosia
•EEG:
•CSWS: frontal and multifocal sharp waves that become continuous during sleep
•LKS: centrotemporal sharp waves that increase during sleep (85% or more of sleep)
•These entities are believed to represent the severe spectrum of BECTs
•If clinical suspicion, need to admit for 24hr telemetry
•Rx: oral steroids and high dose diazepam
ILAE 2009
Adolescence
Case 11 :
15year old girl, previously healthy and developmentally normal, experienced a
2minute generalized tonic-clonic seizure in the morning while on vacation
with parents. Admitted to staying up later than usual. Denied
alcohol/substance abuse. Mom reports that for the past couple of years, has
had episodes when she would drop her dishes. Also reported early morning
limb jerks. Otherwise, developmentally normal. Exam normal.
Teaching Point 2: Common Childhood Epilepsy Syndromes
Adolescent
Juvenile Myoclonic Epilepsy
(JME)
Progressive myoclonic epilepsies
(PME)
•Encompass various metabolic and
neurodegenerative conditions that present with
progressive myoclonus, gen. tonic-clonic and
other seizures, with mental deterioration and
cerebellar dysfunction.
•Onset: infancy to adulthood
•Etiologies: MERRF, Lafora body disease,
Neuronal ceroid lipofuscinosis
ILAE 2009
Common Childhood Epilepsy Syndromes Childhood (2yrs – adolescence)
Juvenile Myoclonic Epilepsy (JME)
•Most common form of idiopathic generalized epilepsy
•Age of onset: 12 to 18years (peak 15yrs)
•Neurological and developmentally normal
•Typically first seizures noted are early morning generalized tonic-clonic seizures precipitated by slep
deprivation
•Often there is a preceding history of: Myoclonic jerks and absence seizures
•EEG: 4Hz to 6Hz generalized atypical spike and polyspike-and-wave discharges with normal
background
•Photosensitivity in 30-90% of cases
•Triggers
•Sleep deprivation
•Alcohol consumption
•Menstruation
•Prognosis: excellent response to AEDs (VPA) but lifelong Rx necessary
•Avoid carbamazepine, phenytoin and gabapentin as these exacerbate myoclonus
ILAE 2009
Common Childhood Epilepsy Syndromes Childhood (2yrs – adolescence)
Show videos
Not all that shakes or stiffens is seizures ….
Case 11 :
You’re asked to see a 6month old baby girl who was admitted for ALTE (Altered
life-threatening event) to “rule out seizure”. Parents describe an episode
lasting ~2min when the baby became “blue and limp”, lost consciousness
and had trembling of her arms and legs. Episode was preceded by intense
crying. No FHx of epilepsy. Developmentally normal. Exam Normal. EEG was
done: Normal.
Case 12 :
5month old bb boy, developmentally normal, presenting with episodes of arching,
lasting a few seconds. Occur several times during the day. Mostly related to
feeds. ROS: Negative, except baby is known for frequent regurgitation of
feeds.
Nonepileptic Paroxysmal events
 Nonepilepic paroxysmal events in childhood are common and pose a diagnostic
challenge
 Key to diagnosis is a detailed history and careful observation
DiMario 2006
Nonepileptic Paroxysmal events
DiMario 2006
Nonepileptic Paroxysmal events
Nonepileptic Paroxysmal events
Breathholding spells
•Represent a prolonged expiratory apnea
•Inciting event provokes emotional upset/crying in child
•Followed by noiseless pause
•Change in colour (pale or cyanotic)
•Severe spells can have loss of consciousness  loss of postural tone  opisthotonic posturing with
myoclonic jerks
•In 15% of children, can have a generalized convulsion  anoxic epileptic seizure
•BHS can be divided into:
•Pallid BHS: pallor with rapid progression to loss of consciousness
•Cyanotic BHS: protracted crying prior to LOC
•Age of onset 6-12months with worsening in second year of life
•Resolution between 3yrs to 8 yrs
•BHS can be exacerbated by anemia
•Parental counseling to reduce anxiety
http://www.youtube.com/watch?v=2bKVHSe6hVQ
http://www.youtube.com/watch?v=-ne9i2a0lqk&feature=related
Nonepileptic Paroxysmal events
Gastroesophageal reflux disease (Sandifer syndrome)
•Can present as ALTE
•Neck and head extension with opisthotonic posturing associated with GER (Sandifer syndrome)
•Typically associated with feeding and vomitting
•Treatment of reflux with anti-reflux medications reduces frequency of episodes
Outline
 Febrile seizures
 Afebrile Seizures (Childhood epilepsy syndromes)
 Headaches
 Ataxia
 Hypotonia
Approach to Headaches in Pediatric population
Approach to Headaches in Pediatric population
Approach to Headaches in Pediatric population
Migraine
Brain Tumour
Infection
(meningitis)
Primary
Secondary
Headache
Tension
headaches
SAH
Vasculitis
Cluster
headaches
Head injury
Headache
Sinus disease
↑ICP
(pseudotumour
cerebri)
Approach to Headaches in Pediatric population
Red Flags:
•Worse headache ever/onset with
exertion/thunderclap headache
•Fever, nuchal rigidity, behavioural
changes
•Headade worse in
morning/straining/change in head
position
•Associated posterior fossa signs
(diplopia, facial weakness, hearing loss,
dysarthria, dysphagia, ataxia,
dysmmetria
•Papilledema
•Worsening or changing quality
Brain Tumour
Infection
(meningitis)
SAH
Secondary
Vasculitis
Head injury
Headache
Sinus disease
↑ICP
(pseudotumour
cerebri)
•Protracted vomiting
•B symptoms
Investigations tailored towards
suspected etiology
Approach to Headaches in Pediatric population
•Migraine with aura
•Migraine without aura
•Migraine equivalents
Migraine
•Acute confusional
migraine
•Basilar migraine
Primary
Headache
•Cyclic vomitting
•Hemiplegic migraine
Tension
headaches
Cluster
headaches
•Opthalmoplegic
migraine
•Benign paroxysmal
vertigo
Approach to Headaches in Pediatric population
Lewis D et al 2004
Approach to Headaches in Pediatric population
Abortive
Prophylactic/Preventative
Agents
•NSAIDs
(Ibuprofen)
•Flunarizine (Ca
channel blocker)
•Acetominophen
•Topiramate
•Triptans (nasal
sumatriptan)
•Amitryptyline
Behavioural
interventions
Avoid triggers
VITAMIN B2
•Valproic acid
•Beta blockers
(pronalolol)
•Cyproheptadine
Lewis D et al 2004
Outline
 Febrile seizures
 Afebrile Seizures (Childhood epilepsy syndromes)
 Headaches
 Ataxia
 Hypotonia
Approach to
Ataxia
Case 13 :
3year old girl, previously healthy, brought to ER by mother because for the past
24 hrs she has been unsteady on her feet and walking like a “drunk”. PMHx
is unremarkable except for low grade fever and cold symptoms 2 weeks
prior to presentation. O/E: VSS and afebrile. Patient alert and sitting up in
bed. Neck supple. Language appropriate. CN exam normal except for
nystagmus on lateral gaze. Truncal ataxia. Dysmmetria (upper and lower
extremities). Wide-based ataxic gait.
Approach to
Acute
•Toxic ingestion
•CNS Infections (rhomboencephalitis)
•Post-infectious/immune
•Acute cerebellar ataxia
•Miller-Fisher
•ADEM
•Myoclonus-opsoclonus
•Migraine (Basilar, BPV)
•Trauma
•Vascular
•cerebellar hemorrhage, PCA
stroke)
•Genetic
•Episodic Ataxia 1/2
•Dominant recurrent ataxia
•MSUD
•PD deficiency
Childhood ataxia
Chronic/Progressive
Investigations:
•Urine toxicology screen, drugs levels,
CBC, LFTs, lytes
•LP: CSF cell counts, protein, glucose,
bacterial culture ± PCR testing for
varicella, mycoplasma pneumonia or
other viruses
•Neuroimaging (CT head; MRI with and
without gadolinum to rule out
structural, demyelinating and
infectious etiologies
•Metabolic workup for IEM
Approach to
Childhood ataxia
Acute
Chronic/Progressive
•Neoplastic
•Cerebellar astrocytomas
•Cerebellar hemangioblastomas
•Medulloblastoma
•Ependymoma
•Congenital malformation
•Cerebellar aplasia
•Dandy-Walker malformation
•Chiari malformation
•Hereditary ataxia
•Autosomal dominant
•Machado-Joseph
•Olivopontocerebellar
•Autosomal recessive
•Abetalipoproteinemia
•Ataxia-telengiectasia
•Fredreich ataxia
•X-linked adrenoleukodystrophy
Outline
 Febrile seizures
 Afebrile Seizures (Childhood epilepsy syndromes)
 Headaches
 Ataxia
 Hypotonia
Approach to
Hypotonia
Case 6 :
6month old baby boy who was admitted on the ward for FTT and feeding
difficulties. Neurology consulted by pediatric’s team who was concerned
about the gross motor development of this baby. At 6months, he still cannot
support his head, is not sitting, even with support. On exam, high prominent
forehead, narrow bifrontal diameter, downslated fissures, almond-shaped
eyes, downturned corners of the mouth, micrognathia, dysplasic ears and
diminished spontaneous activity of limbs; profound axial and appendigeal
hypotonia. Reflexes bilaterally symmetrical 2+, upgoing plantars. No
fasciculations. No muscle atrophy.
Approach to
Hypotonia
Central Nervous System
Spinal Cord
Anterior Horn cell
Peripheral Nerve
Neuromuscular junction
Muscle
Approach to
Hypotonia
Central Nervous System
•Benign congenital hypotonia
•Genetic syndromes (Prader-Willi,
trisomies)
•Hypoxic-ischemic encephalopathy
•Cerebral malformations
•Cortical migration abnormalities
(lissencephaly, schizencephaly)
•Inborn errors of metabolism
(leukodystrophies)
•History (traumatic birth HIE)
•Seizures
•Cognitive delay
•Dysmorphism
•Hemiparesis
•Hyperreflexia
•Limb spasticity
Approach to
Hypotonia
Spinal cord
•Trauma
•Spinal cord ischemia
Approach to
Hypotonia
Anterior Horn Cell
•Spinal muscle atrophy
•Neonatal poliomyelitis
•Profound weakness
•Areflexia
•Feeding difficulties
•Respiratory difficulties
•Tongue fasciculations
•No sensory deficits
•Alert, interactive
Approach to
Hypotonia
Peripheral Nerve
•Hereditary motor and sensory
neuropathies
•Acute inflammatory demyelinating
polyneuropathy
•Familial dysautonomia syndromes
•Giant axonal neuropathy
•Inborn errors of metabolism
•Distal > proximal
weakness
•Hyporeflexia
•Facial weakness
unusual
•Sensory deficits
Approach to
Hypotonia
Neuromuscular Junction
•Infantile botulism
•Transient neonatal
myasthenia gravis
•Congenital myasthenia gravis
•Generalized weakness
•Fatiguability
•Hyporeflexia
•Feeding problems
•Respiratory compromise
•Ptosis
Approach to
Hypotonia
Muscle
•Congenital myopathy
•Congenital muscular dystrophy
•Syndromic and nonsyndromic
•Congenital myotonic dystrophy
•Metabolic myopathy
•History of poor fetal
movement/polyhydramnios
•Proximal muscle weakness
•Hyporeflexia
•Feeding problems
•Respiratory compromise
•Facial diplegia
•Arthrogryposis/bilateral club feet
•Other organ involvement (ex. Heart in
Pompe disease)
Approach to
•Head/spine imaging
Hypotonia
•Genetic testing
•Karyotype
Central Nervous System
•Prader-Willi (methylation
15q11-13)
•SMA testing
Spinal Cord
•CSF evaluation
•EMG/NCS
•Muscle/nerve biopsy
•Tensilon testing
•Metabolic w/u:
•Lactate/pyruvate
•Plasma a.acids
Anterior Horn cell
Peripheral Nerve
•Urine organic acids
•Acyl carnitine profile
Neuromuscular junction
Muscle
•VLCFA
References

Febrile seizures: clinical practice guideline for the long-term management of the child with simple
febrile seizures. Pediatrics. 2008 Jun;121(6):1281-6.

Stafstrom CE. (2009) Severe epilepsy syndromes of early childhood: the link between genetics
and pathophysiology with a focus on SCN1A mutations. J Child Neurol. 2009 Aug;24(8
Suppl):15S-23S.

DiMario FJ Jr.(2006) Paroxysmal nonepileptic events of childhood. Semin Pediatr Neurol. 2006
Dec;13(4):208-21.

Fenichel GM (2005). Clinical Pediatric Neurology – A signs and symptoms approach.

Guberman A and Bruni J (1999) Essentials of Clinical Epilepsy. Chapter 3.

Lewis D, Ashwal S, Hershey A, Hirtz D, Yonker M, Silberstein S; American Academy of Neurology
Quality Standards Subcommittee; Practice Committee of the Child Neurology Society. Practice
parameter: pharmacological treatment of migraine headache in children and adolescents: report of
the American Academy of Neurology Quality Standards Subcommittee and the Practice
Committee of the Child Neurology Society. Neurology. 2004 Dec 28;63(12):2215-24. Review
References

To download protocols from MUHC portal