Emergency Lecture Series Emergency Lecture Series Approach to Common Pediatric Neurology Consults A Case-Based Approach Ruba Benini Pediatric Neurology

Emergency Lecture SeriesEmergency Lecture Series

Approach to Common Pediatric Neurology Consults

A Case-Based Approach

Ruba Benini Pediatric Neurology (PGY2)

McGill University4/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


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%

Simple (typical)

•Generalized

•<15min in duration

•No recurrence in a 24hr period

•Normal neurological status before seizure

Complex (atypical)

•Focal

•>15min in duration (status epilepticus)

•Multiple episodes in a 24hr period

•Abnormal preexisting neurological status before seizure

Classification

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 (Minimum 3days or until fever subsides)

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?

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

•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

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

Stafstrom 2009

Avoid AEDs that block Na channels: lamotrigine, CBZ, oxcarbazepine, phenytoin

Rx: clobazam, VPA


Outline

Febrile seizures


Headaches

Ataxia

Hypotonia

Approach to Afebrile Seizures

Seizure

Provoked •Electrolyte abnormalities

•Infection (meningitis)

•Trauma

•Toxic ingestion

•Vasculitis

•Inborn error of metabolism

•CNS tumour

Unprovoked

•History

•Exam

•Investigations: lytes (Glc, Ca, P, Mg); CBC; LP; tox screen, etc)

•Neuroimaging

Does it fit any of the Childhood Epilepsy

Syndromes?

•Semiology of seizures

•Age of onset

•EEG features

•Clinical features/progression

•Response to Rx

•Prognosis


Approach to Afebrile SeizuresHistory

•Antenatal History

•Birth history

•Developmental history

•Family history

•PMHx (?CNS infections)

•Head trauma

•Seizure description (aura, trigger, eyewitness description)

Serologies/TORCH

Preeclampsia/GDM/Infections

Substance abuse/meds

Antenatal U/S

Fetal distress

Apgars, Cord pH

Need for postnatal resuscitation

Normal vs delayed vs regressed

Consanguinity, hx of febrile seizures, epilepsy, developmental delay, recurrent miscarriages, IEM


Physical Exam

•Dysmorphism

•Stigmata of Neurocutaneous disorders

•Neurological exam including

•HC

• developmental

•?Liver, heart involvement (IEM)


Physical Exam

•Dysmorphism



•HC

• developmental



Physical Exam

•Dysmorphism



•HC

• developmental


Hypopigmented macule (Tuberous sclerosis)

Shagreen patch (Tuber Sclerosis)

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.


Feinichel

Neonatal Period (<28 days)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


•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


ILAE 2009

•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


Feinichel

Approach to Neonatal SeizuresApproach to Neonatal Seizures

Hypoxic-Ischemic Encephalopathy

Infection

Electrolyte abnormalities

Structural

Inborn errors of metabolism

Stroke

Epilepsy syndromes

Benign Epileptic encephalopathies


Feinichel


Benign Familial Neonatal Seizures

•FHx of seizures in first weeks of life with no epilepsy or neurologic abnormalities

•Autosomal dominant, mutations in voltage-gated K channels

•Brief multifocal clonic seizures during the first week ±apnea

•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

Benign Familial Neonatal-Infantile Seizures

•Onset between 6days of life to 3months

•Seizures are partial in onset then become generalized

•Seizures stop spontaneously by age 12months



Early Myoclonic Encephalopathy

•Erratic/fragmentary myoclonus that typically is not associated with an EEG correlate

•EEG shows burst suppression pattern

•Usually normal MRI findings

•Sometimes associated with certain inborn errors of metabolism ex. Nonketotic hyperglcemia, Menkes disease, proprionic acidemia, etc

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

Epileptic encephalopathies : Epileptic encephalopathies : seizures lead to severe cognitive and seizures lead to severe cognitive and

behavioral impairmentbehavioral impairment

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.


ILAE 2009

Infancy (<2yrs)Infancy (<2yrs)

West Syndrome (infantile spasms)

Benign myoclonus of infancy

Benign myoclonic epilepsy

Severe Myoclonic Epilepsy of Infancy (Dravet syndrome)


ILAE 2009


Age of onset

Seizures EEG pattern Clinical features

Rx

Benign myoclonus of infancy

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

Normal development

Resolves by age 2yrs

None required

Benign myoclonic epilepsy

4months-2yrs

Myoclonic jerks

(head noddingsevere enough to throw child onto floor)

Spike & wave (3cps)

Polyspike & wave (3cps)

Normal exam

Normal development

Resolves by age 2yrs

VPA

Levetiracetam

Infantile spasms

4 to 7months

Brief symmetric contractions of neck, trunk, extremities (flexor, extensor, mixed)

Hysarrhythmia

Slow spike & wave

Burst-suppression

Abnormal exam

Abnormal development

*Tuberous sclerosis

ACTH

Vigabatrin


ILAE 2009


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

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.



ILAE 2009

Childhood Absence Epilepsy

BECTS

Lennox-Gastaut

Landau-Kleffner

Childhood Childhood


ILAE 2009

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

Childhood (2yrs – adolescence)Childhood (2yrs – adolescence)


ILAE 2009

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


•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


•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

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

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


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

ILAE 2009

AdolescentAdolescent

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

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



Show videos


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.

Not all that shakes or stiffens is seizures ….Not all that shakes or stiffens is seizures ….

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


DiMario 2006



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


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


Headaches

Ataxia

Hypotonia

Approach to Headaches in Pediatric population



Secondary

Headache

Brain Tumour

Sinus diseaseHead injury

Infection (meningitis)

Vasculitis

SAH

↑ICP (pseudotumour

cerebri)

Primary

Headache

Migraine

Cluster headachesTension

headaches


Secondary

Headache

Brain Tumour

Sinus diseaseHead injury

Infection (meningitis)

Vasculitis

SAH

↑ICP (pseudotumour

cerebri)

Red Flags: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

•Protracted vomiting

•B symptoms

Investigations tailored towards suspected etiology


Primary

Headache

Migraine

Cluster headachesTension

headaches

•Migraine with aura

•Migraine without aura

•Migraine equivalents

•Acute confusional migraine

•Basilar migraine

•Cyclic vomitting

•Hemiplegic migraine

•Opthalmoplegic migraine

•Benign paroxysmal vertigo

Lewis D et al 2004


Lewis D et al 2004


AbortiveAbortive Prophylactic/Preventative Prophylactic/Preventative AgentsAgents

Behavioural Behavioural interventionsinterventions

•NSAIDs (Ibuprofen)

•Acetominophen

•Triptans (nasal sumatriptan)

•Flunarizine (Ca channel blocker)

•Topiramate

•Amitryptyline

•Valproic acid

•Beta blockers (pronalolol)

•Cyproheptadine

Avoid triggers

VITAMIN B2

Outline

Febrile seizures


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 Childhood ataxia

•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

Acute Chronic/Progressive

Investigations: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

•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

Acute Chronic/Progressive

Outline

Febrile seizures


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.


Central Nervous System

Spinal Cord

Anterior Horn cell

Peripheral Nerve

Neuromuscular junction

Muscle



•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


Spinal cord

•Trauma•Spinal cord ischemia


Anterior Horn Cell

•Spinal muscle atrophy•Neonatal poliomyelitis

•Profound weakness

•Areflexia

•Feeding difficulties

•Respiratory difficulties

•Tongue fasciculations

•No sensory deficits

•Alert, interactive


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


Neuromuscular Junction

•Infantile botulism•Transient neonatal myasthenia gravis•Congenital myasthenia gravis

•Generalized weakness

•Fatiguability

•Hyporeflexia

•Feeding problems

•Respiratory compromise

•Ptosis


Muscle•Congenital myopathy•Congenital muscular dystrophy

•Syndromic and non-syndromic

•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)



Spinal Cord

Anterior Horn cell

Peripheral Nerve

Neuromuscular junction

Muscle

•Head/spine imaging

•Genetic testing

•Karyotype

•Prader-Willi (methylation 15q11-13)

•SMA testing

•CSF evaluation

•EMG/NCS

•Muscle/nerve biopsy

•Tensilon testing

•Metabolic w/u:

•Lactate/pyruvate

•Plasma a.acids

•Urine organic acids

•Acyl carnitine profile

•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

Documents

Emergency Lecture Series Emergency Lecture Series Approach to Common Pediatric Neurology Consults A Case-Based Approach Ruba Benini Pediatric Neurology