神经系统疾病解释.pptVIP

? Neurofibromatosis 17q11.2 ; 22q11 （1:3000; 1:33000~40000） ? Tuberous sclerosis 9q34 ; 16p13.3 （ 1:9500 ~ 1:20000） ? Sturge-Weber syndromes (Encephalofacial angiomatosis) (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 (2) 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 I. General Considerations of Epilepsy II. Etiology III. Diagnosis International classification of epileptic seizures (I) 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) 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 Non-epileptic seizures (Differential…) ? Masturbation ? Tourette’s syn. ? Breath-holdind attacks ? Migraine ? Pseudoseizures ? Sleep disorders ? Benign nocturnal myoclonus ? Syncope 我劝一个草率结