Neurologic & Muscular Disorders
Zhou Shuizhen (周水珍 )
Department of Neurology
Children’s Hospital of FuDan University
Part I,General Consideration
? Anatomical and physiology features of the child CNS
? Neurological examination of children
? Key facts about neurological disorders in children,
– Infections of the CNS
– Neurocutaneous syndromes
– Cerebral palsy
– Progressive muscular dystrophy
– Seizure disorders (epilepsies & non-epilepsy seizures)
– Convulsions & Weakness (PBL)
Physiologic and anatomical features
of the child CNS
1,Brain
- weight, at birth 6m 1y 2y 4-6y adult
370 700 900 1000 1300 1500 (g) -
cerebra / pallium / cell number …
- myelinization,fetal period ~ 4yrs.
2,Spinal Cord
- weight,2~6g (at birth)
- terminal, L3 (fetal); L1(4y)
- myelinization,3y
Neurological examination of children
?A child’s nervous system is continuous development
?Methods of neurological must be adapted to
the child’s developmental stage
?Neurological signs are altered by external factors
? Examination reveals presence of abnormalities,
locations of lesions and clues of etiology
I,General observation
1,General observation,Hyperactivity,attention,emotional state
2,Consciousness,Level; Quality
3,Speech & language,Eye to eye contact ; Gestures
Articulation; Understanding; Expression
4,Facies and Head,Size,shape of head; Fontanelle,size &
tension; Bruit,transillumination of head
5,Neck,Movement,deformity,signs of meningeal irritation
6,Skin,Cafe au lait spots,telangiectasis,haemangiomas
II,Cranial nerves
1,Smell
2,Vision-field,acuity,abnormal eye movement
3,Pupil size,reactions
4,Fundi
5,Ocular movement,squint,nystangmus,ptosis,sun-set sign
6,Jaw movement,jaw jerk,facial sensation & corneal reflex
7,Ear examination,hearing,vestibular function
8,Paltal movement,gag reflex
9,Rotate head,elevate shoulders,extend neck
10,Tongue-protrusion,atrophy,fasciculation,
percussion-myotonia
III,Motor Functions
1,Observe spontaneous posture & movement:
– Lying,sitting,standing,walking,running,climbing
& descending,grasping,manipulation.
2,Muscle bulk,consistency
3,Muscle tone – fasciculation,myotonia
4,Muscle power,joint by joint
5,Ataxia – Truncal while sitting & standing
– Limds,Reaching,Finger-nose,Heel-knee
Rapid alternating movements
6,Involuntary movement – Chorea,athetosis,dystonia
tremor,myoclonus,at rest and on movement
VI,
Sensation
1,Superficial,touch,pain,temperature
2,Proprioceptive,position – joint,vibration
3,Cortical,stereognosis,graphaesthesia,
2 point discrimination,texture,shape,weight
4,Special,hearing( and comprehension),taste,
Sight ( and comprehension ),smell
5,Sensori–motor co-ordination
V,Reflexes
1,Tendox reflexes
2,Superficial – anal,plantar
3,Clonus
4,Babinski,Gordon,Chaddock,Oppenheim,Hoffmann
5,Meningeal irritation – stiff neck,Kerning/Brudzinsk signs
? Clinical Findings:
– fever,malaise,hypothermia
– headache,mental status,seizures,focal deficits
– meningeal irritation(+) / a bulging fontanelle
Babinski,Gordon,Chaddock,Oppenheim (+)
? Laboratory Findings,CSF / EEG / CT & MRI (+)
? Differential microbes:
– viral,bacterial,tuberculous,cryptococcus……
1,Infectious Disease of CNS
? Neurofibromatosis 17q11.2 ; 22q11
（ 1:3000; 1:33000~40000）
? Tuberous sclerosis 9q34 ; 16p13.3
（ 1:9500 ~ 1:20000）
? Sturge-Weber syndromes
(Encephalofacial angiomatosis)
2,Neurocutaneous syndromes
(1)Neurofibromatosis
? Skin,
– Cafe’-au-lait – Axillary freckles
– Peripheral neurofibromas
? Eye:
Pigmented bumps on the iris (Lisch nodules)
? Brain,
– Plexiform neurofibromas
– Optic pathway glioma – Epilepsy
Neurofibromatosis
Neurofibromatosis
(2) Tuberous sclerosis
? Skin,– hypomelanotic macules – ungual fibroma
– facial angiofibroma – Shagreen plaque
? Brain,– mental retardation – seizures
? Eyes,– Retinal depigmented spots
? Brain CT,– Cortical tubers,subependymal nodules,
subependymal giant cell astrocytomas
Tuberous sclerosis
Tuberous sclerosis
(3) Sturge-Weber syndrome
? Skin:
– Facial angioma or Port-wine stain Facial angiona
? Brain:
– Seizures – Hemiplegia – Hemianopsia
– Leptomeningeal venous angiomatos
? Eyes:
– Choroidal angioma – Glaucoma
Sturge-Weber syndrome
3,Cerebral Palsy
? Causes,Antenatal (80%),Intrapartum (10%),Postnatal (10%)
? Clinical features:
1) Non-progressive lesion of the developing brain ( <1 month )
2) Delayed motor milestone
3) Clinical examination show abnormalities of,
Tone – hypertonia or hypotonia;
Power – hemiparesis
Reflexes – brisk tendox reflexes or persistence primitive reflexes
Abnormal movements & posture or gait
? Classification:
Spastic (70%) – hemiplegic,diplegic,quadriplegic
Dyskinetic(10%) – athetoid,dystonic
Ataxic (10%) – hypotonic
Mixed (10%)
Cerebral palsy
4,Progressive muscular dystrophy
? Causes:x-linked recessive disease (male 1:4000),Xp21
? Clicical features:
– Pseudohypertrophy 0f calf muscles
– Positive Grower’s sign (evident at 3-5 years)
– Progressive degeneration of muscle (<25-30)
? Investigations:
– Serum CK / LDH level (10-20 times normal)
– EMG suggests myopathy
– Muscle biopsy (muscular dystrophies)
– DNA analysis (identification of mutations
in the dystrophin gene)
Duchenne muscular dystrophy
课间休息 !
Part II,Epilepsy
I,General Considerations of Epilepsy
? Definition,a chronic disorder of the brain characterized
by recurrent,unprovoked epileptic seizures,
( motor / sensory / autonomic / psychic )
? Prevalence,3～ 6 ‰
? Prognosis,50% Full remission (no seizure,no drugs)
20～ 30% Conditional remission (no seizure,on drugs)
10～ 20% Therapy resistance
? Investigations,– EEG AEEG VEEG
– MRI MRA SPECT PET fMRI MRS
– Other investigations
II,Etiology
? Idiopathic,( the cause is unknown or
presumed to be genetic )
? Symptomatic,( the cause is identified or presumed )
– Central nervous system malformations
– Metabolic disorders – Meningitis
– Birth asphyxia – Brain tumor
? Cryptogenic,(the cause is presumed to be Symptomatic)
III,Diagnosis
1,To distinguish between an epileptic seizure and epilepsy?
2,To identify the types of seizure & epilepsy syndrome?
3,To identify the causes of epilepsy?
4,Developmental assessment?
(– Motor, gross motor,fine manipulation,equilibrium…
– Sensation and perception
– Sensori-motor co-ordination
– Speech and language
– Psycho-social and Cognitive)
EEG
International classification of epileptic seizures (I)
1,Partial ( focal,local ) seizures
A,Simple (without impaired consciousness)
- with motor symptoms
- with somatosensory or special sensory
symptoms
- with autonomic symptoms
- with psychic symptoms
B,Complex (with impaired consciousness)
- beginning as simple partial seizure
- with only impairment of consciousness
- with automatisms
C,Secondarily generalized
2,Generalized seizures
A,Absence seizures
B,Myoclonic seizures
C,Clonic seizures
D,Tonic-seizures
E,Tonic-clonic seizures
F,Atonic seizures
3,Unclassified epileptic seizures
Epilepsies and syndromes (II)
1,Partial (focal,local)
A,idiopathic:
– benign children epilepsy with centrol-temporal spike
– children epilepsy with occipital paroxysms
B,symptomatic:
– temporallobe epilepsies
– forntal,lobe epilepsies
– parietallobe epilepsies
– occipital lobe epilepsies
C,crytogenic
2,Generalized
A,idiopathic,– benign neonatal familial convulsion
– benign myoclonic epilepsy in infancy
– children absence seizures
– juvenile myoclonic epilepsy
B,symptomatic or crytogenic:
– infantile Spasms (West syndrome)
– Lennox-Gastaut Syndrome
3,Special syndromes
– Febrile Seizures
– Seizures occuring only some condition
– Others
1) Age of onset can be any time beyond the neonatal period
2) Tonic stiffening,loss of consciousness,apnea,with or
without bladder or bowel incontinence and tongue biting
3) After these,the following occur:
– Clonic activity in four limbs,symmetric
– Postictal confusion or sleep
– Recovery
? Generalized Tonic- Clonic Seizures
Generalized seizures
1) Age of onset,3~12yrs
2) Clinical Symptoms,
staring,eye blinking,loss of consciousness
3) Duration,seconds
4) Frequency,many in a day
5) EEG,3~Hz spike and wave ( generalized )
6) Etiology,genetic
? Absence seizures
Absence seizures
? Simple Partial Seizures
1) Seen at any age
2) Little or no warning
3) Focal limb movement or focal sensory
4) No loss of consciousness
5) MRI,rule out structural lesion
6) EEG,focal spikes or sharp waves
in 40% to 85% of patients
Simple partial seizure
? Complex Partial Seizures
1) Onset at any age
2) Aura,present
– Upset stomach or nausea
– Unpleasant smells or tastes
– Auditory or visual hallucinations
– Intense fear
3) Staring with automatisms
4) Postictal state,consists of confusion and sleep
5) EEG,temporal sharp waves and rhythmic temporal or alpha
6) Etiology,may be structural
Complex partial seizure
Infantile spasms (West syndrome)
? Ninety percent begin in the first year of life;
(the peak age of onset is 4~6m)
? Infantile spasms syndrome is defined by the following:
1) Jack-knife seizures in clusters
2) Hypsarrhythmic EEG
3) Mental retardation
? Etiology,Symptogenic
Infantile spasm
? Lennox-Gastaut Syndrome
1) Appears from 1-7 years of age
2) Tonic,atonic,myoclonic,atypical absence seizures
3) Frequent daily seizures
4) Mental retardation,progressive
5) EEG,slow spike and wave;
Activated during drowsiness and slow sleep
Lennox- Gastaut Syndrome
? Beningn Rolandic epilepsy
1) Begins from 2~12 years (usually 5~10yrs.)
2) Most common partial epilepsy in children
Noctural,secondarily generalized tonic-clonic seizures
3) EEG,spike or spike wave in the midtemporal and
central sylvian regions with phase reversals;
may be unilateral or bilateral
4) Positive family history of abnormal EEGs (AD)
Benning childhood epilepsy with centro-temporal spike
Non-epileptic seizures (Differential…)
? Masturbation ? Tourette’s syn.
? Breath-holdind attacks ? Migraine
? Pseudoseizures ? Sleep disorders
? Benign nocturnal myoclonus ? Syncope
IV,Management of epilepsy
?Principles of Anticonvulsant Therapy
1) Treat with the drug appropriate to the clinical situation
2) Monotherapy will achieve (70~80%)
3) Start with one drug in conventional dosege
4) Monitoring the side Effects of antiepileptic drugs
5) Continue anticonvulsant treatment
6) Discontinue anticonvulsants gradually
7) Monitoring the blood levels of antiepileptic drugs
? Ketogenic diet
? Surgery (corticectomy,hemisherectomy……)
? Psychological and educational implication
(self-esteem,anxiety,depression,learning difficulties)
?Objective:
- To achieve complete seizures
- To improve the quality of life of children with epilepsy
Welcome !
szzhou@shmu.edu.cn
Zhou Shuizhen (周水珍 )
Department of Neurology
Children’s Hospital of FuDan University
Part I,General Consideration
? Anatomical and physiology features of the child CNS
? Neurological examination of children
? Key facts about neurological disorders in children,
– Infections of the CNS
– Neurocutaneous syndromes
– Cerebral palsy
– Progressive muscular dystrophy
– Seizure disorders (epilepsies & non-epilepsy seizures)
– Convulsions & Weakness (PBL)
Physiologic and anatomical features
of the child CNS
1,Brain
- weight, at birth 6m 1y 2y 4-6y adult
370 700 900 1000 1300 1500 (g) -
cerebra / pallium / cell number …
- myelinization,fetal period ~ 4yrs.
2,Spinal Cord
- weight,2~6g (at birth)
- terminal, L3 (fetal); L1(4y)
- myelinization,3y
Neurological examination of children
?A child’s nervous system is continuous development
?Methods of neurological must be adapted to
the child’s developmental stage
?Neurological signs are altered by external factors
? Examination reveals presence of abnormalities,
locations of lesions and clues of etiology
I,General observation
1,General observation,Hyperactivity,attention,emotional state
2,Consciousness,Level; Quality
3,Speech & language,Eye to eye contact ; Gestures
Articulation; Understanding; Expression
4,Facies and Head,Size,shape of head; Fontanelle,size &
tension; Bruit,transillumination of head
5,Neck,Movement,deformity,signs of meningeal irritation
6,Skin,Cafe au lait spots,telangiectasis,haemangiomas
II,Cranial nerves
1,Smell
2,Vision-field,acuity,abnormal eye movement
3,Pupil size,reactions
4,Fundi
5,Ocular movement,squint,nystangmus,ptosis,sun-set sign
6,Jaw movement,jaw jerk,facial sensation & corneal reflex
7,Ear examination,hearing,vestibular function
8,Paltal movement,gag reflex
9,Rotate head,elevate shoulders,extend neck
10,Tongue-protrusion,atrophy,fasciculation,
percussion-myotonia
III,Motor Functions
1,Observe spontaneous posture & movement:
– Lying,sitting,standing,walking,running,climbing
& descending,grasping,manipulation.
2,Muscle bulk,consistency
3,Muscle tone – fasciculation,myotonia
4,Muscle power,joint by joint
5,Ataxia – Truncal while sitting & standing
– Limds,Reaching,Finger-nose,Heel-knee
Rapid alternating movements
6,Involuntary movement – Chorea,athetosis,dystonia
tremor,myoclonus,at rest and on movement
VI,
Sensation
1,Superficial,touch,pain,temperature
2,Proprioceptive,position – joint,vibration
3,Cortical,stereognosis,graphaesthesia,
2 point discrimination,texture,shape,weight
4,Special,hearing( and comprehension),taste,
Sight ( and comprehension ),smell
5,Sensori–motor co-ordination
V,Reflexes
1,Tendox reflexes
2,Superficial – anal,plantar
3,Clonus
4,Babinski,Gordon,Chaddock,Oppenheim,Hoffmann
5,Meningeal irritation – stiff neck,Kerning/Brudzinsk signs
? Clinical Findings:
– fever,malaise,hypothermia
– headache,mental status,seizures,focal deficits
– meningeal irritation(+) / a bulging fontanelle
Babinski,Gordon,Chaddock,Oppenheim (+)
? Laboratory Findings,CSF / EEG / CT & MRI (+)
? Differential microbes:
– viral,bacterial,tuberculous,cryptococcus……
1,Infectious Disease of CNS
? Neurofibromatosis 17q11.2 ; 22q11
（ 1:3000; 1:33000~40000）
? Tuberous sclerosis 9q34 ; 16p13.3
（ 1:9500 ~ 1:20000）
? Sturge-Weber syndromes
(Encephalofacial angiomatosis)
2,Neurocutaneous syndromes
(1)Neurofibromatosis
? Skin,
– Cafe’-au-lait – Axillary freckles
– Peripheral neurofibromas
? Eye:
Pigmented bumps on the iris (Lisch nodules)
? Brain,
– Plexiform neurofibromas
– Optic pathway glioma – Epilepsy
Neurofibromatosis
Neurofibromatosis
(2) Tuberous sclerosis
? Skin,– hypomelanotic macules – ungual fibroma
– facial angiofibroma – Shagreen plaque
? Brain,– mental retardation – seizures
? Eyes,– Retinal depigmented spots
? Brain CT,– Cortical tubers,subependymal nodules,
subependymal giant cell astrocytomas
Tuberous sclerosis
Tuberous sclerosis
(3) Sturge-Weber syndrome
? Skin:
– Facial angioma or Port-wine stain Facial angiona
? Brain:
– Seizures – Hemiplegia – Hemianopsia
– Leptomeningeal venous angiomatos
? Eyes:
– Choroidal angioma – Glaucoma
Sturge-Weber syndrome
3,Cerebral Palsy
? Causes,Antenatal (80%),Intrapartum (10%),Postnatal (10%)
? Clinical features:
1) Non-progressive lesion of the developing brain ( <1 month )
2) Delayed motor milestone
3) Clinical examination show abnormalities of,
Tone – hypertonia or hypotonia;
Power – hemiparesis
Reflexes – brisk tendox reflexes or persistence primitive reflexes
Abnormal movements & posture or gait
? Classification:
Spastic (70%) – hemiplegic,diplegic,quadriplegic
Dyskinetic(10%) – athetoid,dystonic
Ataxic (10%) – hypotonic
Mixed (10%)
Cerebral palsy
4,Progressive muscular dystrophy
? Causes:x-linked recessive disease (male 1:4000),Xp21
? Clicical features:
– Pseudohypertrophy 0f calf muscles
– Positive Grower’s sign (evident at 3-5 years)
– Progressive degeneration of muscle (<25-30)
? Investigations:
– Serum CK / LDH level (10-20 times normal)
– EMG suggests myopathy
– Muscle biopsy (muscular dystrophies)
– DNA analysis (identification of mutations
in the dystrophin gene)
Duchenne muscular dystrophy
课间休息 !
Part II,Epilepsy
I,General Considerations of Epilepsy
? Definition,a chronic disorder of the brain characterized
by recurrent,unprovoked epileptic seizures,
( motor / sensory / autonomic / psychic )
? Prevalence,3～ 6 ‰
? Prognosis,50% Full remission (no seizure,no drugs)
20～ 30% Conditional remission (no seizure,on drugs)
10～ 20% Therapy resistance
? Investigations,– EEG AEEG VEEG
– MRI MRA SPECT PET fMRI MRS
– Other investigations
II,Etiology
? Idiopathic,( the cause is unknown or
presumed to be genetic )
? Symptomatic,( the cause is identified or presumed )
– Central nervous system malformations
– Metabolic disorders – Meningitis
– Birth asphyxia – Brain tumor
? Cryptogenic,(the cause is presumed to be Symptomatic)
III,Diagnosis
1,To distinguish between an epileptic seizure and epilepsy?
2,To identify the types of seizure & epilepsy syndrome?
3,To identify the causes of epilepsy?
4,Developmental assessment?
(– Motor, gross motor,fine manipulation,equilibrium…
– Sensation and perception
– Sensori-motor co-ordination
– Speech and language
– Psycho-social and Cognitive)
EEG
International classification of epileptic seizures (I)
1,Partial ( focal,local ) seizures
A,Simple (without impaired consciousness)
- with motor symptoms
- with somatosensory or special sensory
symptoms
- with autonomic symptoms
- with psychic symptoms
B,Complex (with impaired consciousness)
- beginning as simple partial seizure
- with only impairment of consciousness
- with automatisms
C,Secondarily generalized
2,Generalized seizures
A,Absence seizures
B,Myoclonic seizures
C,Clonic seizures
D,Tonic-seizures
E,Tonic-clonic seizures
F,Atonic seizures
3,Unclassified epileptic seizures
Epilepsies and syndromes (II)
1,Partial (focal,local)
A,idiopathic:
– benign children epilepsy with centrol-temporal spike
– children epilepsy with occipital paroxysms
B,symptomatic:
– temporallobe epilepsies
– forntal,lobe epilepsies
– parietallobe epilepsies
– occipital lobe epilepsies
C,crytogenic
2,Generalized
A,idiopathic,– benign neonatal familial convulsion
– benign myoclonic epilepsy in infancy
– children absence seizures
– juvenile myoclonic epilepsy
B,symptomatic or crytogenic:
– infantile Spasms (West syndrome)
– Lennox-Gastaut Syndrome
3,Special syndromes
– Febrile Seizures
– Seizures occuring only some condition
– Others
1) Age of onset can be any time beyond the neonatal period
2) Tonic stiffening,loss of consciousness,apnea,with or
without bladder or bowel incontinence and tongue biting
3) After these,the following occur:
– Clonic activity in four limbs,symmetric
– Postictal confusion or sleep
– Recovery
? Generalized Tonic- Clonic Seizures
Generalized seizures
1) Age of onset,3~12yrs
2) Clinical Symptoms,
staring,eye blinking,loss of consciousness
3) Duration,seconds
4) Frequency,many in a day
5) EEG,3~Hz spike and wave ( generalized )
6) Etiology,genetic
? Absence seizures
Absence seizures
? Simple Partial Seizures
1) Seen at any age
2) Little or no warning
3) Focal limb movement or focal sensory
4) No loss of consciousness
5) MRI,rule out structural lesion
6) EEG,focal spikes or sharp waves
in 40% to 85% of patients
Simple partial seizure
? Complex Partial Seizures
1) Onset at any age
2) Aura,present
– Upset stomach or nausea
– Unpleasant smells or tastes
– Auditory or visual hallucinations
– Intense fear
3) Staring with automatisms
4) Postictal state,consists of confusion and sleep
5) EEG,temporal sharp waves and rhythmic temporal or alpha
6) Etiology,may be structural
Complex partial seizure
Infantile spasms (West syndrome)
? Ninety percent begin in the first year of life;
(the peak age of onset is 4~6m)
? Infantile spasms syndrome is defined by the following:
1) Jack-knife seizures in clusters
2) Hypsarrhythmic EEG
3) Mental retardation
? Etiology,Symptogenic
Infantile spasm
? Lennox-Gastaut Syndrome
1) Appears from 1-7 years of age
2) Tonic,atonic,myoclonic,atypical absence seizures
3) Frequent daily seizures
4) Mental retardation,progressive
5) EEG,slow spike and wave;
Activated during drowsiness and slow sleep
Lennox- Gastaut Syndrome
? Beningn Rolandic epilepsy
1) Begins from 2~12 years (usually 5~10yrs.)
2) Most common partial epilepsy in children
Noctural,secondarily generalized tonic-clonic seizures
3) EEG,spike or spike wave in the midtemporal and
central sylvian regions with phase reversals;
may be unilateral or bilateral
4) Positive family history of abnormal EEGs (AD)
Benning childhood epilepsy with centro-temporal spike
Non-epileptic seizures (Differential…)
? Masturbation ? Tourette’s syn.
? Breath-holdind attacks ? Migraine
? Pseudoseizures ? Sleep disorders
? Benign nocturnal myoclonus ? Syncope
IV,Management of epilepsy
?Principles of Anticonvulsant Therapy
1) Treat with the drug appropriate to the clinical situation
2) Monotherapy will achieve (70~80%)
3) Start with one drug in conventional dosege
4) Monitoring the side Effects of antiepileptic drugs
5) Continue anticonvulsant treatment
6) Discontinue anticonvulsants gradually
7) Monitoring the blood levels of antiepileptic drugs
? Ketogenic diet
? Surgery (corticectomy,hemisherectomy……)
? Psychological and educational implication
(self-esteem,anxiety,depression,learning difficulties)
?Objective:
- To achieve complete seizures
- To improve the quality of life of children with epilepsy
Welcome !
szzhou@shmu.edu.cn
