【正文】 Neurologic amp。 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 amp。 nonepilepsy seizures) – Convulsions amp。 Weakness (PBL) Physiologic and anatomical features of the child CNS 1. Brain weight : at birth 6m 1y 2y 46y 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 amp。 language: Eye to eye contact 。 Gestures Articulation。 Understanding。 Expression 4. Facies and Head: Size, shape of head。 Fontanelle, size amp。 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. Visionfield, acuity, abnormal eye movement 3. Pupil size, reactions 4. Fundi 5. Ocular movement, squint, nystangmus, ptosis, sunset sign 6. Jaw movement, jaw jerk, facial sensation amp。 corneal reflex 7. Ear examination, hearing, vestibular function 8. Paltal movement, gag reflex 9. Rotate head, elevate shoulders, extend neck 10. Tongueprotrusion, atrophy, fasciculation, percussionmyotonia III. Motor Functions 1. Observe spontaneous posture amp。 movement: – Lying, sitting, standing, walking, running, climbing amp。 descending, grasping, manipulation. 2. Muscle bulk, consistency 3. Muscle tone – fasciculation, myotonia 4. Muscle power, joint by joint 5. Ataxia – Truncal while sitting amp。 standing – Limds: Reaching, Fingernose, Heelknee 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 prehension), taste, Sight ( and prehension ), smell 5. Sensori–motor coordination 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 amp。 MRI (+) ? Differential microbes: – viral, bacterial, tuberculous, cryptococcus…… 1. Infectious Disease of CNS ? Neurofibromatosis 。 22q11 （ 1:3000。 1:33000~40000） ? Tuberous sclerosis 9q34 。 （ 1:9500 ~ 1:20220） ? SturgeWeber syndromes (Encephalofacial angiomatosis) 2. Neurocutaneous syndromes (1) Neurofibromatosis ? Skin: – Cafe’aulait – 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) SturgeWeber syndrome ? Skin: – Facial angioma or Portwine stain Facial angiona ? Brain: – Seizures – Hemiplegia – Hemianopsia – Leptomeningeal venous angiomatos ? Eyes: – Choroidal angioma – Glaua SturgeWeber syndrome 3. Cerebral Palsy ? Causes： Antenatal (80%), Intrapartum (10%), Postnatal (10%) ? Clinical features: 1) Nonprogressive lesion of the developing brain ( 1 month ) 2) Delayed motor milesto