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1、 Neurologic & Muscular Disorders 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 Sei
2、zure 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(g) ) - cerebra / pallium / cell number - myelinization: fetal period 4yrs. 2. Spinal Co
3、rd - weight: 26g (at birth) - terminal : L3 (fetal); L1(4y) - myelinization: 3y Neurological examination of children A childs nervous system is continuous development Methods of neurological must be adapted to the childs developmental stage Neurological signs are altered by external factors Examinat
4、ion reveals presence of abnormalities, locations of lesions and clues of etiology I. General observation1. General observation: Hyperactivity, attention, emotional state 2. Consciousness: Level; Quality 3. Speech & language: Eye to eye contact ; Gestures Articulation; Understanding; Expression4. Fac
5、ies and Head: Size, shape of head; Fontanelle, size & tension; Bruit, transillumination of head5. Neck: Movement, deformity, signs of meningeal irritation6. Skin: Cafe au lait spots, telangiectasis, haemangiomas II. Cranial nerves1. Smell2. Vision-field, acuity, abnormal eye movement3. Pupil size, r
6、eactions4. Fundi5. Ocular movement, squint, nystangmus, ptosis, sun-set sign6. Jaw movement, jaw jerk, facial sensation & corneal reflex7. Ear examination, hearing, vestibular function8. Paltal movement, gag reflex9. Rotate head, elevate shoulders, extend neck10. Tongue-protrusion, atrophy, fascicul
7、ation, percussion-myotonia III. Motor Functions1. Observe spontaneous posture & movement: Lying, sitting, standing, walking, running, climbing & descending, grasping, manipulation.2. Muscle bulk, consistency3. Muscle tone fasciculation, myotonia4. Muscle power, joint by joint5. Ataxia Truncal while
8、sitting & standing Limds: Reaching, Finger-nose, Heel-knee Rapid alternating movements6. Involuntary movement Chorea, athetosis, dystonia tremor, myoclonus, at rest and on movement VI. Sensation1. Superficial: touch, pain, temperature2. Proprioceptive: position joint, vibration3. Cortical: stereogno
9、sis, graphaesthesia, 2 point discrimination, texture, shape, weight4. Special: hearing( and comprehension), taste, Sight ( and comprehension ), smell5. Sensorimotor co-ordination V. Reflexes1. Tendox reflexes2. Superficial anal, plantar3. Clonus4. Babinski, Gordon, Chaddock, Oppenheim, Hoffmann5. Me
10、ningeal 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
11、microbes: viral, bacterial, tuberculous, cryptococcus1. Infectious Disease of CNS Neurofibromatosis 17q11.2 ; 22q11 （1:3000; 1:3300040000） Tuberous sclerosis 9q34 ; 16p13.3 （ 1:9500 1:20000） Sturge-Weber syndromes (Encephalofacial angiomatosis) 2. Neurocutaneous syndromes (1) Neurofibromatosis Skin:
12、 Cafe-au-lait Axillary freckles Peripheral neurofibromas Eye: Pigmented bumps on the iris (Lisch nodules) Brain: Plexiform neurofibromas Optic pathway glioma Epilepsy NeurofibromatosisNeurofibromatosis (2) Tuberous sclerosis Skin: hypomelanotic macules ungual fibroma facial angiofibroma Shagreen pla
13、que Brain: mental retardation seizures Eyes: Retinal depigmented spots Brain CT: Cortical tubers, subependymal nodules, subependymal giant cell astrocytomasTuberous sclerosis Tuberous sclerosis (3) Sturge-Weber syndrome Skin: Facial angioma or Port-wine stain Facial angiona Brain: Seizures Hemiplegi
14、a Hemianopsia Leptomeningeal venous angiomatos Eyes: Choroidal angioma GlaucomaSturge-Weber syndrome3. Cerebral Palsy Causes：Antenatal (80%), Intrapartum (10%), Postnatal (10%) Clinical features:1) Non-progressive lesion of the developing brain ( 1 month )2) Delayed motor milestone3) Clinical examin
15、ation 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%) hypoton
16、ic Mixed (10%) Cerebral palsy 4. Progressive muscular dystrophy Causes:x-linked recessive disease (male 1:4000), Xp21 Clicical features: Pseudohypertrophy 0f calf muscles Positive Growers sign (evident at 3-5 years) Progressive degeneration of muscle (25-30) Investigations: Serum CK / LDH level (10-
17、20 times normal) EMG suggests myopathy Muscle biopsy (muscular dystrophies) DNA analysis (identification of mutations in the dystrophin gene)Duchenne muscular dystrophy课间休息课间休息! Part II： Epilepsy I. General Considerations of Epilepsy Definition: a chronic disorder of the brain characterized by recur
18、rent, unprovoked epileptic seizures. ( motor / sensory / autonomic / psychic ) Prevalence：36 Prognosis: 50% Full remission (no seizure, no drugs) 2030% Conditional remission (no seizure, on drugs) 1020% Therapy resistance Investigations: EEG AEEG VEEG MRI MRA SPECT PET fMRI MRS Other investigations
19、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. Diagnosis1. To d
20、istinguish 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 la
21、nguage 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. Co
22、mplex (with impaired consciousness) - beginning as simple partial seizure - with only impairment of consciousness - with automatisms C. Secondarily generalized2. Generalized seizures A. Absence seizures B. Myoclonic seizures C. Clonic seizures D. Tonic-seizures E. Tonic-clonic seizures F. Atonic sei
23、zures 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 occi
24、pital 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
25、 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 li
26、mbs: symmetric Postictal confusion or sleep Recovery Generalized Tonic- Clonic SeizuresGeneralized seizures 1) Age of onset: 312yrs 2) Clinical Symptoms: staring, eye blinking, loss of consciousness 3) Duration: seconds 4) Frequency: many in a day 5) EEG: 3Hz spike and wave ( generalized ) 6) Etiolo
27、gy: genetic Absence seizuresAbsence 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
28、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
29、 6) Etiology: may be structural Complex partial seizureInfantile spasms (West syndrome) Ninety percent begin in the first year of life; (the peak age of onset is 46m) Infantile spasms syndrome is defined by the following: 1) Jack-knife seizures in clusters 2) Hypsarrhythmic EEG 3) Mental retardation
30、 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
31、 Syndrome Beningn Rolandic epilepsy 1) Begins from 212 years (usually 510yrs.) 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 bil
32、ateral 4) Positive family history of abnormal EEGs (AD) Benning childhood epilepsy with centro-temporal spike Non-epileptic seizures (Differential) Masturbation Tourettes syn. Breath-holdind attacks Migraine Pseudoseizures Sleep disorders Benign nocturnal myoclonus Syncope IV. Management of epilepsy
33、 Principles of Anticonvulsant Therapy1) Treat with the drug appropriate to the clinical situation2) Monotherapy will achieve (7080%)3) Start with one drug in conventional dosege4) Monitoring the side Effects of antiepileptic drugs 5) Continue anticonvulsant treatment6) Discontinue anticonvulsants gr
34、adually7) 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 !
