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Home , Alternating hemiplegia, Brain herniation, Wolfram syndrome

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Supplementary ­Information

Index – 731

© Springer International Publishing AG, part of Springer Nature 2018 Y. M. Awaad, Absolute Pediatric , https://doi.org/10.1007/978-3-319-78801-2 731 A

Index

Adrenomyeloneuropathy 90, 96, Astatic 245 A 132, 134 Astrocytoma 574 AACG, see Acute angle closure Adults with viral 312 Ataxia telangiectasia (AT) 47, 115, glaucoma (AACG) Advanced neurological imaging 144, 566 Abetalipoproteinemia 87, 140 techniques 35 Atenolol 369 –– clinical presentation 426 AED prophylaxis 212, 254, 281 460 Absence 211 AHC, see Alternating hemiplegia of Atomexetine 27 Absence seizures 200, 308 childhood Attention-deficit hyperactivity Absolute neutrophil count (ANC) 400 Aicardi syndrome 73, 308 disorder (ADHD) 18, 22, 24, 25, 44 Acetominophen 354 AIP, see Acute intermittent porphyria Auditory seizures 304 Acetylcholine receptor (AChR) 645 Alexander disease 68, 142 Autism 25 –– antibody-positive disease 512 Alice in Wonderland Autism Diagnostic Interview-Revised Achilles tendons 515, 517 syndrome 366, 375 (AID-R) 9 Acid alpha-glucosidase 42 Almotriptan (Axert) 370 Autism Diagnostic Observation Acquired developmental skills Alpha-dystroglycanopathies 45 Schedule (ADDOS) 9 (neuro-regression) 419 Alpha L iduronidase deficiency 425 Autism spectrum disorder Acquired hemophilia (Acquired factor Alpha-N-acetylgalactosaminidase (ASD) 22, 65 VIII deficiency) 723 deficiency 60 –– catatonia-like episodes 11 Acquired / 568 Alternating hemiplegia of childhood –– child’s language delay 6, 7 Activité moyenne 277 (AHC) 250, 260 –– clinical presentation 9 Acute angle closure glaucoma American Academy of Pediatrics 336 –– 16p11.2 deletion/duplication 2 (AACG) 240 Amitryptiline 285, 349, 369 –– developmental delay evaluation 2 Acute demyelinating encephalomy- Amoxapine 684 –– diagnosis 2 elopathy, see Acute disseminated Andersen-Tawil syndrome 532 –– emotionless 8 (ADEM) Anencephaly 606 –– environmental factors 2 Acute disseminated encephalomyeli- Angelman syndrome (AS) 42, 176, –– with epilepsy in children and tis (ADEM) 147, 150, 387 196, 263 adolescents 4 Acute dystonic reaction 353 Anosognosia 608 –– genetic/environmental risk Acute hepatic failure 493 Antidepressant medications 675 factors 3, 4 Acute inflammatory demyelinating Anti-endomysial antibodies 494–496 –– loss 2 polyneuropathy (AIDP) 146, 517 Antiepileptic drug (AED) 151, –– identification of 9 Acute intermittent porphyria 212, 254 –– language acquisition delay 14, 15 (AIP) 110, 256, 428, 429 Anti-microbial therapy 399 –– management 10 Acute ischemic 75 Anti-phospholipid antibody –– odd behavior 6 –– in children 728 syndrome (APLS) 723 –– older paternal age 4 27 Antisocial behavior 21 –– restrictive and repetitive Acute optic neuritis 153 Apgar scores 666 behaviors 6 Acute pain 696 Applied behavioral analysis –– social interaction 6 Acute postinfectious cerebellitis 405 (ABA therapy) 7, 10 –– symptoms 6 Acute rheumatic fever (ARF), Arginase deficiency 430, 663 –– thalidomide 5 Sydenham’s 447 Argininosuccinic aciduria 423 –– topiramate 5 Acute serous 390, 391 Aripiprazole 175 –– treatment interventions 10 Acute transverse Arm flapping 463 –– TSC1 mutations 13 (ATM) 655, 657 Arnold Chiari II malformation 658 –– tuberous sclerosis 11 Adenoma sebaceum 477 Arrhinencephaly 95, 114 –– valproic acid 5 ADHD, see Attention-deficit/ Arteriovenous malformation Autistic behaviors 242 hyperactivity disorder (AVM) 709 Autistic spectrum disorder (ASD) 58 ADNFLE, see Autosomal dominant ARX mutations 38 Autoimmune thyroiditis 412 nocturnal epilepsy Asceptic 397, 398 Autonomic 286 Adrenocorticotropic hormone ASD, see Autism spectrum disorder Autosomal dominant familial (ACTH) 216 Ash leaf spot 58 paroxysmal 239 Adrenoleukodystrophy (ALD) 90, 96, Asperger’s syndrome 3, 6, 9, 10 Autosomal dominant GTP cyclohydro- 134, 421 Assent 338 lase deficiency 448 732 Index

Autosomal dominant nocturnal Benign Rolandic Epilepsy 193, 602 –– oxcarbazepine 680, 683, 685 frontal lobe epilepsy Benzodiazepines 273, 371, 676 –– toxicity 669 (ADNFLE) 244, 251, Beta-hexosaminidase A activity 56 Carbamoyl phosphate synthetase 270, 272, 276, 281, 640 BFNC, see Benign familial neonatal deficiency 423 Autosomal mosaicism for aneu- convulsions Cardiac conduction deficits 507 ploidy 483 BHS, see Breath-holding spells Cardiac musculature 534 Axillary neuropathy 700 Bilateral auditory information 722 Cardiac rhabdomyoma 11, 469–470 Axon Sports Computerized Cognitive Bilateral optic neuritis 155 Cardiomyopathy 94 Assessment Tool 696 Bilateral rhythmic contractions, Carditis 452 central tegmental tract 593 Carnitine palmitoyltransferase 1A Bilateral stenosis 721 (liver) (CPT1A) 426 B Biotinidase deficiency 439 Cavernous sinus thrombosis 407, 726 –– biotin levels 433 CDKL5 mutations 179, 243 Bacterial meningitis 338, 386, Blood- barrier, cell types 604 Celiac disease 463, 495 387, 400 Blood-nerve barrier 678 Central cholinergic synapses, –– Bacterial Meningitis Score 400 Blood test 60 haloperidol 613 –– in children 398 BNFS, see Benign familial neonatal Central core myopathy 541 –– with predominance of neutro- seizures Central , myelina- phils 402, 403 Bone marrow transplantation 421, tion 599, 600 Balance Error Scoring System 440 Centrocaecal scotoma 586 (BESS) 696 Borrelia burgdorferi 385 Centro-nuclear/myotubular Ballismus 460 Botulinum toxin type A 671 myopathy 540, 548 Bardet-Biedle syndrome 71 Botulism immune globulin 509 Centrotemporal spikes 264, 273 Bartonella infections 381 Brachial plexus birth palsy Cerebellar abnormalities 660 612 (BPBP) 644, 652 Cerebellar astrocytoma 370 –– pathology 593 Brain herniation 697 , acquired Basilar meningitis, neurologic and Brain metastases 579, 580 causes 462, 463 radiographic findings 379 injury 697 Cerebellar atrophy 616 Basilar 343, 347 Brain teratomas 576 pathology 593 Bassen-Kornzweig syndrome 140 Brain tumors, corticosteroids 573 Cerebral autosomal dominant –– Abetalipoproteinemia See also Breath-holding spells (BHS) 255 arteriopathy with subcortical B12 coenzyme synthesis and Breech delivery 644 infarcts and leukoencephalopathy transport 432 British anti-lewisite (BAL) 681 (CADASIL) 376 Becker disease 518, 536 Broad spectrum antiepileptic architecture 607, 608 Becker muscular dystrophy 142, 533 medications 296 Cerebral folate deficiency 280 Becker phenotype 523 Bulimia nervosa 186 Cerebral hemorrhage 679 Becker type myotonia 528 Burst suppression 277 Cerebral palsy (CP) 135, 661, Behavioral therapy 24 663, 664, 666 Bell’s palsy 698 –– brain MRI 668 Benign childhood epilepsy with –– characterization 664 centrotemporal spikes C –– diagnosis of 665 (BECTS) 188, 195, 211, 222, 230 CADASIL, see Cerebral autosomal –– diplegic 663, 668 Benign familial neonatal convulsions dominant arteriopathy with –– 670 (BFNC) 248, 258, 461 subcortical infarcts and leukoen- –– etiologies 663, 667 Benign familial neonatal seizures cephalopathy –– hemiparetic 668 (BNFS) 244 Calcium channel 366 –– hemiparetic CP 663 Benign febrile convulsions 257 Canavan disease 52, 58, 119, 431 –– hemiplegic 663, 668 Benign focal epilepsy 316 –– diagnosis 127 –– hypertonia 670 –– central mid temporal spikes 602 CANS, see Childhood Acute –– incidence of 663 Benign hereditary chorea 445 Neuropsychiatric Syndrome –– neuroimaging 663 Benign idiopathic neonatal Carbamazepine 212, 272, 313, –– quadriparetic 663, 668 seizures 305 679, 684 –– schizencephaly 669 Benign intracranial 374 –– auto-induction 680, 684 –– SCPR report 664 Benign neonatal seizures 311 –– 10, 11-carbamazepine –– spasticity 670, 671 Benign neonatal sleep epoxide 680 –– symptoms 664 ­ 254 –– hepatic enzyme inducer 680, 684 Cerebral venous sinus thrombosis Benign paroxysmal torticollis 444 –– liver metabolism with renal (CVST) 706 Benign paroxysmal 261, 342 excretion of metabolites 680, 684 733 A–D Index

Cerebrospinal fluid analysis, ampicillin Cisplatin 681 Corpus callosum 112 and gentamicin 403, 404 Citrullinemia type I 424 –– partial agenesis 433, 434 Ceroid lipofuscinosis, neuronal 1 Classic lissencephaly 37, 101 Cortical development, superficial (CLN1) 89 Classic tuberous sclerosis 58 cortical layers 609 Ceroid lipofuscinosis, neuronal 4 Clinically isolated syndrome (CIS) 152 Cortical injury 695 (CLN4) 89 Clonazepam 324 Cortical spreading depression 368 Ceroid lipofuscinosis, neuronal 10 Clostridium botulinum 393, 394, 548 Corticosteroids 515, 647, 694 (CLN10) 87 Cluster 351 –– therapy 517 Cervical lymphadenopathy, CMAP, see Compound muscle action Cough 363 mycobacterial infections 382 potentials (CMAPs) Cranial 592 Cervical spine (C-spine) CMT1X neuropathy 537 Cranial neuralgia, ophthalmologic injuries 646, 694 CNS vasculitis 706 migraine 587 Charcot-Marie-Tooth (CMT) Cobb syndrome 481 Craniopharyngioma 105, 564, 565, disease 524, 526, 545 Cobblestone lissencephaly 91, 99, 571, 589 –– CMT1 530 102, 143, 534 Cri du chat syndrome 79 –– CMT1B 525 Cocaine 675 Crossed adduction 600 –– CMT1A 523, 524, 546 Cognitive involvement 172, 178 Crouzon syndrome 57 –– CMT2 group 525, 530, 547 Communicating 617 Cutaneomeningospinal –– CMT2D 545 Communication, family members 335 ­angiomatosis 481 –– CMT3 525, 547 Complex regional pain syndrome 362 Cyanotic breath-holding 285 –– CMT4 524, 530 Compound muscle action potentials Cyclic vomiting syndrome –– CMTX 525, 547, 667 (CMAPs) 517, 521, 539 (CVS) 342, 347 Checklist for autism in toddlers Comprehensive Behavioral Interven- Cyclophosphamide 682 (CHAT) 2 tion for Tics (CBIT) 444 Cyproheptadine 285, 348, 676 Cherry-red spot 85, 104, 111 689, 690, 694 Cystathionine 13-synthase 651 Confusional arousals 627, 636 ­deficiency 432 –– type I 74, 106, 346, 648 Congenital AIDS 405 Cytochrome c oxidase (COX) 41 –– type II 78, 614 Congenital bilateral perisylvian Cytomegalovirus (CMV) infection 383 Child neurologists 336, 359 syndrome 7 –– urine from infant positive 387, 388 Childhood absence epilepsy Congenital craniopharygiomas 576 (CAE) 189, 217, 245, 317 Congenital cytomegalovirus 183 –– diagnostic EEG pattern 593 Congenital disorders of glycosylation Childhood acute neuropsychiatric (CDG) 137 D syndrome (CANS) 22 Congenital ependymomas 576 Dancing eye and dancing feet Childhood epileptic Congenital disease 183, 259 syndrome 555 syndromes 20 Congenital Horner syndrome 695 Dandy-Walker Syndrome (DWS) 32, Childhood leukemia Congenital hypomyelinating 50, 51, 82, 620 –– complications 496 ­neuropathy 679 Dantrolene 671 –– cranial irradiation 497 Congenital meningiomas 576 Daytime sleepiness 627, 630, 634, –– treatment 496 Congenital muscular dystrophy 45 639, 640 Chorda tympani branch 698 Congenital myasthenic syndrome 31 Chorea 460 (CMS) 520 Deep belly laugh 648 Choreaform movements 459 Congenital myotonic Deep 660 Choriocarcinoma (nongerminoma- dystrophy 506, 519 Deep tendon reflexes 645, 649, 653 tous germ cell tumor) 574, 582 Congenital toxoplasmosis 7 Dehydrocholesterol 123 Choroid plexus carcinoma 580, 581 (CT) 378, 379 Dejerine-Sottas syndrome 525, 530 582, 583 –– symptoms 403 Delayed sleep phase syndrome 631 Chromosomal microarray analysis 9 Congestive heart failure Delta brushes 293 Chronic daily headache syn- –– and increased intracranial Denervation disease 529 drome 353, 360, 367 pressure 619 Denervation neuropathies 531 Chronic lead exposure in children 681 –– vein of Galen 619 Dermatomyositis 527, 529 Chronic medical conditions 284 Contemporary medical ethics 335 Developmental delay 138 Chronic paroxysmal hemicrania Conversion disorder and substance –– definitive etiology 419 (CPH) 351 abuse 630, 639 –– evaluation, lead level 413 Chronic prophylaxis 314 Convulsions 298 –– white matter () vs. Chronic recurrent headaches 357 Cori/Forbes disease (glycogen storage grey matter (poliodystrophy) Circadian rhythm disorder 631 disease, type III) 422 disorder 419 734 Index

Diastematomyelia 657 ELISA (enzyme linked Extracranial injuries 691 Diazepam 684 ­immunoelectrotransfer) 401 Eye closure, alpha rhythm 598 Diffuse intrinsic brainstem Embryonal carcinoma 573, 582 Ezogabine 270, 324 ­gliomas 558 Embryonal nervous system Diffuse intrinsic pontine development 602–605 gliomas 562, 563 Emery-Dreifuss muscular F DiGeorge syndrome 259 ­dystrophy 507, 524, 541 Fabry disease 75, 90, 92 Dihydroergotamine (DHE) 375 Encephalitis 679, 721 Facial angiofibromas 477 Diplegic CP 663, 668 Encephalocele 606 Facioscapulohumeral dystrophy 72 Disorders of cerebral folate Encephalopathy 382 Fahr disease (idiopathic basal ganglia ­metabolism 11 Encephalotrigeminal calcification) 458 Distal symmetric polyneuropathy 686 ­angiomatosis 473 Familial Divalproex sodium 212 Enteric nervous system 64 (FHM) 345, 461 Doose syndrome 263, 264 Enzymatic analysis 93 Fat embolism 702 DOPA decarboxylase deficiency 431 Enzyme replacement therapy Fazio-Londe disease 31 Dopa-responsive dystonia (DRD) 421, (ERT) 43 Febrile hemi-clonic status 452–454, 460, 663, 670 Enzyme linked immunoelectrotransfer ­epilepticus 262 Down syndrome (trisomy 21) 138, (ELISA) 401 Febrile seizures 247, 265, 287, 297, 388, 412 Enzyme-linked immunoelectrotrans- 320, 330 Dravet syndrome 11, 120, 244, 252, fer blot assay (EITB) 395 Felbamate 191 262, 265, 274, 284, 301, 328 Ependymoma 555, 581, 620 Fencing posture 600 Drug-induced acute dystonia 677 –– in adults 574 Fetal alcohol spectrum (FAS) DSM V Criteria for Autism Spectrum –– CNS tumor in children 574 disorder 21, 414 Disorder –– intracranial neoplasms 566, 567 FISH 176 –– diagnostic criteria 12, 184 –– in 574 FLNa gene 78 –– social communication impairments Epidermal nevus syndrome Focal cortical dysplasia 113 severity 12, 13 (ENS) 468 Focal epilepsy 300 Duchenne muscular dystrophy Epidural (EDH) 657, Food-borne botulism 509 (DMD) 142, 177, 508, 511, 515, 693, 724 Foville syndrome 701 516, 520, 530, 533, 535, 536, 551 Epilepsy syndrome 79, 178, 266, 474 Fragile X syndrome 173, 414, 419 –– early signs of 543 –– EEG patterns 597 Fragile X ataxia syndrome –– symptoms of 549, 550 –– febrile seizures 320 (FXTAS) 410, 414, 415 Duchenne muscular weakness 540 –– of infancy 319 Friedreich ataxia (FA) 70, 85, 141 Dysembryoplastic neuroepithelial –– management 290 Frontal lobe lesion 593 tumor (DNET) 571, 572, 618 –– risk for 238 Frontal lobe seizures 289, 294, Dysferlin deficiency 541 –– sports activities 269 301, 330 Dysmorphic features 65 Epileptic 7, 115, Fronto-polar leads 204 Dystonia musulorum deformans 445 310, 665 Frovatriptan 370 Dystrophic myotonia type 1 (DM1) Epileptic seizures, lateralization signs Fukuyama congenital muscular myotonic dystrophy 542 and symptoms 598, 599 dystrophy 506 Dystrophin analysis 142, 526, 535 Epileptiform activity, AMPA and Functional behavior analysis Dystrophinopathies 511 glutamate receptors 613 (FBA) 175 Epinephrine 518 Episodic ataxia 1 (EA1) 461 E Episodic ataxia type 2 (EA2) 455, 465 Early post-traumatic seizures 704 Epstein-Barr virus (EBV) 578 G Eating disorder 186 Erb-Duchenne paralysis 698 Galactosemia 133 Echocardiogram 65 Erb’s palsy 644, 652, 695 Galactose-1-phosphate Ecstasy 675 Erythromelalgia 362 ­uridyltransferase deficiency 436 Edwards’s syndrome 79 Eslicarbazepine 323 Galactosidase deficiency 112 Ehlers-Danlos syndrome 92 Ethical and policy issues, genetic Galant reflex 600 Electrical status epilepticus of slow testing and screening of Gaucher disease 53, 122 wave sleep (ESES) 7, 325, 608 children 336 –– clinical presentation 440 Electrocardiogram 77, 227 Ethics consultation 286 –– diagnosis 125, 440 Electrodes 292 Ethosuximide 313, 323 –– enzyme replacement with Electroencephalogram 120 Ewings sarcoma 580 imiglucerase 440 Electromyography (EMG) 338, Exaggerated startle disease 299, 329 –– lysosomal glucocerebrosides 440 526, 527 Excitatory transmitters 613 –– types 427 735 D–H Index

Gelastic seizures 230 Headache –– HSAN3 532 with febrile –– from cerebral vasculitis 370 –– HSAN4 532 seizures plus (GEFS+) 283, –– Chiari I malformations 346 Hereditary tyrosinemia 679 306, 321 –– in children 359 Herpes simplex encephalitis Generalized hypotonia 509, –– classification 356 (HSE) 378 512, 538 –– cluster 351 Herpes simplex virus (HSV) 593 Generalized tonic clonic (GTC) –– icepick 354 Heterotopia 78 seizures 301, 309, 327, 599 –– 357 Hexosaminidase A deficiency 60, 74 –– phenytoin 600, 601 –– mediation-overuse 376 High birth weight 644 Genetic disorders 338 –– of pulsating quality 354 Highly active anti-retroviral therapy Genetic testing 176 –– topiramate 351 (HAART) 381 Germ cell tumor 574 –– with vomiting 371 Hirschsprung’s disease 43, 64 Germinoma 572, 574, 617 –– in young children 372 –– submucous plexus 594 –– beta HCG, AFP levels 582 Health care provider 339 Holoprosencephaly (HPE) 50, 207 Giant cell neuropathy 133 and ototoxicity 681 Homocysteinuria 60, 432 Gilliam Autism rating scale 9 Hemangioblastomas 557 –– AR disorder 435 Glasgow Scale (GCS) score 694, Hematologic disorders 432 –– collagen metabolism 703, 728 Hematoma 699 ­abnormality 435 Glaucoma 233 Hemiclonic activity 309 –– developmental delay 435 Glial cysts 361 Hemiconvulsive seizures 265 –– intellectual disability 435 Globoid cell leukodystrophy 81, 83 Hemicrania continua 347 Horizontal diplopia 502 –– See also Krabbe disease Hemimegaloencephaly Horner syndrome 697 Globus pallidus 706 (HMC) 40, 131 HPE, see Holoprosencephaly Glomus tumour 618 Hemiparetic CP 663, 668 HSV encephalitis 397, 619 Glossopharyngeal neuralgia 344 Hemiplegic CP 355, 663, 668 Huffing 686 Glove-and-stocking neuropathy 678 Hemiplegic migraine 345, 360 Hunter syndrome 136, 138, 425, 437 Glucose transporter type I deficiency Hemoglobin S 727 Huntington’s disease 593 syndrome (GLUT1-DS) 11, 115, Hemolytic uremic syndrome 492, Hurler syndrome 425, 438 239, 274, 280, 310, 328, 665 493, 497 Hydranencephaly 35, 707 Glutaric acidemia type 1 449, 674 Hydrocephalus 670 450, 458 –– causes 498 Hydromyelia 106 Glycine 306 –– liver transplantation 498 Hyperactive encephalopathy 685 Glycine encephalopathy (non-ketotic –– lorazepam 498 Hyperekplexia 299, 306, 329 hyperglycinemia) 434 –– manganese deposition, basal Hyper-intense regions 66 Glycoproteinoses 128 ganglia 498 Hyperkalemic periodic paralysis 366, GM1 gangliosidosis 81 –– mannitol/hypertonic saline 528, 532 GM2 gangliosidosis 110, 112, 133 administration 498 Hypermobility 540, 541 Gomori trichrome staining 538 –– pathophysiology 498 Hypertrophic neuropathy of Gorlin syndrome 470, 475 Hepatolenticular degeneration infancy 525 Gradenigo syndrome 406, 407, 701 (Wilson disease) Hyperventilation (HV) activation 206, Gray matter diseases 312 –– copper metabolism 427 292, 294, 297 Group A β-hemolytic streptococcal –– lead intoxication in children 427 Hypnogogic and hypnopompic (GABHS) infection 447 –– neurological symptoms in hallucinations 635 Growing teratoma syndrome 576, children 427 Hypocalcemia 312 577 Hereditary dopa-responsive dystonia Hypoglycemia 292 GTP cyclohydrolase 1-deficient –– clinical presentation 450 Hypokalemia 312 dopa-responsive dystonia –– management 450 Hypokalemic periodic (GTPCH1) 445 Hereditary hemorrhagic paralysis 528, 532 GTP cyclohydrolase 1 (GCH1) ­telangiectasia 92 Hypomagnesemia 312 mutation 424 Hereditary motor and sensory Hypomelanosis 73 Guillain Barre Syndrome 146, 152, neuropathy type1 (HMSN1), Hypomelanosis of Ito (HI) 483 382, 389, 517, 529, 686 see Charcot-Marie-Tooth 1 (CMT1) 312, 501 Hereditary neuropathy with liability to Hypoprebetalipoproteinemia 74 pressure palsies (HNPP) 522 Hypothalamic hamartoma 199, 230, H Hereditary sensory and autonomic 265, 571 Hallervorden-Spatz syndrome 420 neuropathy (HSAN) 679 Hypothalamic-pituitary Hartnup disease 431 –– HSAN I 532 ­dysfunction 35 Hashimoto encephalopathy (HE) 494 –– HSAN2 532 Hypothermia 293 736 Index

Hypoxanthine-guanine-phosphoribo- Intractable epilepsy 265 Lambert-Eaton myasthenia syndrome syltransferase (HGPRT) 418 Intractable infantile-onset (LEMS) 502, 521, 538, 539 Hypoxic-ischemic encephalopathy ­epilepsy 280 Laminin a2 (merosin) deficiency 541 (HIE) 666, 668 Intractable seizures 101 Lamotrigine 25, 200, 266, 299, 313 Hypsarrhythmia 197, 204, 216, Intradural extramedullary tumor 656 Landau-Kleffner syndrome (LKS) 20, 226, 327 Intrathecal baclofen therapy 671 209, 242, 269, 411 Intraventricular hemorrhage 661, 710 Landau reflex 600 Involuntary movements 458 Language disorder 9 I Isotretinoin 178 L-arginine 109 Late-onset Iatrogenic botulism 509 type 3 or 4 516 Ibuprofen 354 Latex allergy 655 Icute ischemic stroke 711 J Lead encephalopathy 676 Idiopathic epilepsy syndrome 640 Jones criteria for rheumatic heart Lead exposure 674, 675, 681 Idiopathic febrile status epilepti- disease 452 Lead poisoning 681 cus 289 Joubert syndrome 97 Leber congenital amaurosis (LCA) 71, Idiopathic generalized epilepsy (IGE) Juvenile absence epilepsy (JAE) 211, 104, 589 syndrome 301, 324, 330 214, 323 Leber’s hereditary Idiopathic increased intracranial Juvenile Batten disease 55 (LHON) 586 pressure 344 Juvenile dermatomyositis 518 Left hemispheric hemimegalenceph- Idiopathic intracranial hypertension Juvenile aly 84, 130 (llH) 374 (JME) 120, 190, 201, 218, 244, 250, Left homonymous hemianopia 718 Idiopathic photosensitive occipital 282, 290, 295, 296, 298, 309, 41, 88, 109 lobe 241 332, 335 Lennox Gastaut syndrome (LGS) 191, Immediate Post- Juvenile neuronal ceroid 193, 209, 215, 253, 263, 282, 295, Assessment and Cognitive Testing ­lipofuscinosis 120 296, 302 (ImPACT) assessment tool 696 Juvenile pilocytic astrocytoma 561 Leptomeningeal capillary-venous Infantile botulism 504, 509, 513, 521 Juvenile progressive 72 malformation 488 Infantile GM1 gangliosidosis 77 Juvenile Tay-Sach’s disease 121 Lesch-Nyhan syndrome (LNS) 135, 421 Infantile myotubular myopathy 548 –– clinical presentation 418 Infantile Refsum disease 72 –– in males 457 Infantile spasms (IS) 223, 233, 256, K Levetiracetam 201 314, 322, 456 Kava kava 674 Limb-girdle muscular Infants, developmental stages 607 Kayser-Fleischer rings 441, 442, 456 dystrophy 132, 667 Inflammatory demyelinating KCNQ2 277 Lipodystrophy 137 lesions 647 Kearns-Sayre syndrome (KSS) 68, 71, Lissencephaly 37, 65, 91, 101, 549 Informal testing of hearing frequen- 77, 83, 100, 105, 589 –– type I 99 cies 592 Kernicterus 38 Lithium 369 Integrin protein 645 Ketogenic diet 266, 267, 665 Liver enzymes 511 Intellectual disability 183 King-Devick Test 696 Liver function tests 54 Intermittent low back pain 645 Kinky hair syndrome 472 Liver transplantation 493 Intermittent photic stimulation Klein-Levin syndrome 625 LKS, see Landau-Kleffner syndrome (IPS) 203 Klippel-Feil syndrome 648 LMNA-related CMD (L-CMD) 506 International Classification of Sleep Klumpke palsy 695 Lomustine 682 Disorders (ISCD-2) 627 Klüver-Bucy syndrome, amygdale 613 Lorazepam 251 International Headache Society Krabbe disease 39, 52, 76, 81, 83, 105, Lower brachial Plexus roots 696 criteria 351 121, 124, 132 Lumbar puncture 357, 391, 392, International League Against Epilepsy –– See also Globoid cell 658, 700 (ILAE) 251 ­leukodystrophy Lyme disease Intracerebral hemorrhage (ICH) Krebs cycle 430 –– clinical manifestations 385 score 728 Kugelberg-Welander –– clinical scenario 387 350, 620 syndrome 516 –– erythematous rash 385 Intracranial hypertension, –– facial nerves involvement 389 ­corticosteroids 573 –– neurologic presentations 402, 403 Intracranial teratomas, congenital Lyme meningitis 390 brain tumors 576 L Lymphocytic choriomeningitis Intractable Childhood Epilepsy with Lactic acidosis 365 virus 379 Generalized Tonic Clonic seizures Lafora body disease 120, 304, 307 Lysosomal storage diseases 303 (ICEGTC) 247 Lambda waves 234, 293 737 H–N Index

Methylphenidate/amphetamine 24 471, 712–714, M Mexiletine 529, 536 717, 722, 726 Macrocephaly 84, 100, 131 Microcephaly 25, 84, 100, 130 MPS, see Mucopolysaccharidoses Macular/central scotoma 586 Migraine MPSI, see Migrating partial seizures of Maffucci syndrome 478 –– acute treatment 358 infancy Magnetoencephalogram 202 –– in adults 363 Mucopolysaccharidoses (MPS) 46, Maple syrup urine disease 312, 427 –– basilar 347 125, 136, 425, 437, 438 –– enzyme branched-chain keto acid –– family history 343 618 dehydrogenase 434 –– headaches 363, 366, 375, 670, 694 Mu rhythm 291 Marfan syndrome, FBN1 gene –– hemiplegic 345 Muscle biopsy 365 encoding fibrillin 422, 423 –– pathophysiology 368 Muscle eye brain (MEB) disease 505, Mastoiditis 349 Migraine equivalent syndromes 342 506, 534, 550 Maternal alcohol intake 183 Migrating partial seizures of infancy Muscle fiber necrosis 551 Maternal chromosome 1Sq-q13 (MPSI) 245, 246 Muscle tension 372 deletion 69 Mild hyponatremia 669 Muscular dystrophy 549 Maternal 606 Mild thoracolumbar scoliosis 649 MuSK antibody 645 Maternal uniparental disomy 414 Mild-to-moderate hypoxic ischemic Mutations of ALD gene 89 McArdle’s disease 530, 531, 550 injury 709 Myasthenia gravis 539, 645 McDonald Criteria 159 Mild 689 Mycobacterium tuberculosis Mcleod syndrome 74 Millard-Gubler syndrome 701 PCR 379, 380 Medication overuse headache 345 Miller-Dieker syndrome Myelin basic protein 526 Medulloblastoma 554–556, 578 (MDS) 55, 91, 101 Myelomeningocele (spinal dysra- –– posterior fossa 570–571 Miller-Fisher variant of Guillain phism/rachischisis) 597 Megalencephaly 131 Barre 463 Myeloschisis 658 MELAS, see Mitochondrial encepha- Minocycline 360 Myenteric plexus 64 lopathy, lactic acidosis and Mitochondrial disorders 60, 173, 434 Myoadenylate deaminase (MELAS) Mitochondrial DNA, cytochrome b ­deficiency 530 Meningeom im Spinalkanal MRT 656 deficiency 426 Myoclonic astatic epilepsy, see Doose Meningiomas 656 Mitochondrial syndrome Meningitis, enterovirus 385, 386 ­encephalomyopathy 94 Myoclonic-atonic seizures 266 Menkes disease 7, 421, 472 Mitochondrial encephalopathy 302 Myoclonic epilepsy with ragged red Mental retardation 180 Mitochondrial encephalopathy, fibers (MERFF) 104, 439 –– cerebellar ataxia 410 lactic acidosis and strokes Myoclonic jerks 287 –– learning difficulties 410 (MELAS) 108, 722 Myoclonic seizures 312 –– pre-mutation carriers 410 Mitochondrial myopathies 518, 529 Myoclonus 254, 459 Merosin positive congenital muscular Mitochondrial phenotypes 174 Myoclonus-dystonia (M-D) 445 dystrophy 506 Mixed flexor extensor spasms 322 Myophosphorylase deficiency Merosin-deficient congenital Mixed germ cell tumors 573, 574 (McArdle disease) 422, 531 muscular dystrophy MLD, see Metachromatic Myotonia congenita 518, 528, 536 (MDCMD) 511, 512 ­leukodystrophy Myotonic disorders 515 MERRF, see Myoclonic epilepsy with Moderate mental retardation 65 Myotonic dystrophy 514 ragged red fibers Modified Checklist for Autism in –– type 1 524, 542, 543 Mesial epilepsy 294 Toddlers 2, 8 –– type 2 524, 542 Metachromatic leukodystrophy Moebius syndrome 31 Myotubular myopathy, see Centro- (MLD) 49, 86, 98, 128, 132, Molar tooth sign 30, 82, 97 nuclear myopathy 614, 615 5p Monosomy 79 Methemoglobin 720 Moro reflex 600 Methotrexate 682 Mother’s headaches 349 N Motion sickness 367 Methylation analysis 414 N-acetyl aspartic acid (NAA) 58, 119 404 Methylenetetrahydrofolate reductase Naloxone 677 Motor/sensorimotor (MTHFR) deficiency 432 Narcolepsy 630, 634, 635, 638, ­neuropathies 681 Methylmalonic acidemia 430 639, 641 Motor tics 459, 460 –– adenosylcobalamin 430 –– with cataplexy 636, 637 Movement disorders –– diagnosis 431 –– hypocretin/orexin 601 –– CBIT 444 –– extended newborn screening 431 Nemaline myopathy 538 –– focal motor seizures 458 –– D-methylmalonyl-CoA mutase Neonatal encephalopathy 666 –– frontal/temporal lobe focal motor deficiency 430 Neonatal herpes simplex seizures 458 –– treatment 431 ­encephalitis 384 738 Index

Neonatal hypocalcemia 259 Neuromyelitis optica (NMO) spectrum Optic nerve glioma 567, 568 Nerve conduction studies 149 diseases 152, 160, 655 Optic nerve hypoplasia 35 Nervus intermedius neuralgia 344 Neuronal ceroid lipofuscinosis Optic nerve pallor 153 Neural crest cells, autonomic (NCL) 89, 113, 118 Optic neuritis 147, 156 ganglia 594, 595 Neuronal membrane channels, Optic Neuritis Treatment Trial Neural tube closure, neurological ligand-gating 612 (ONTT) 147 abnormalities 597 Neuronal migration, astrocytes 604 Optic pathway gliomas Neural tube defects (NTD) 596, 597 Neuronal proliferation disorder 113 (OPGs) 587 –– anencephaly and Neuro-ophthalmology –– incidence 563 ­encephalocele 606 –– cranial nerve trauma at birth 588 Oral contraceptives 266 –– prenatal ultrasonography 605 –– third nerve palsy 588 Orbital apex syndrome 726 –– risk factors 606 Neuropathy, ataxia and retinitis Orbital sarcoidosis 568 Neuro-cutaneous syndromes pigmentosa (NARP) 68 Ornithine transcarbamylase (OTC) (phakomatoses) 66, 474 Nevoid basal cell carcinoma 470 deficiency 126, 423, 429, 430, 435, Neuro-cysticercosis (NCC) 383, 395 Newborn’s sleep 638 436, 441 –– in children 400, 401 Niemann-Pick type A 85 Osler-Weber-Rendu syndrome, see with brain iron Niemann-Pick Type C 99 Hereditary hemorrhagic accumulation (NBIA) 127 Nightmares 637, 638 telangiectasia Neurodevelopmental Effects of Night terrors 249, 624, 628 Ototoxicity, cisplatin chemother- Antiepileptic Drugs (NEAD) NIH Stroke Scale 718 apy 499, 500 study 182 Nimodipine 692 Oxcarbamazepine 200 Neurofibromatosis type 1 NMDAR antibodies 157 Oxcarbazepine 680, 683, 685 (NF1) 468–470, 587 NMDAR encephalitis 157 –– age-related manifestations 486 NMO, see Neuromyelitis optica –– Cafe au lait spots 483, 486 Nocturnal seizures 270 P –– cutaneous lesions 474 Non-accidental head injury PAFAH1B1 55 –– ependymomas 484 (NAHI) 689, 692 Pain 696 –– epidermal nevus syndrome 483 Non-contract CT 368 Palatal myoclonus, segmental –– genetics 484 Nongerminomatous germ cell ­myoclonus 593 –– hyperpigmented lesions 482 tumor 576 Pallid breath-holding spells 285 –– Lisch nodules 486 Non-rapid eye movements (NREM) Palmitoyl protein thioesterase 1 –– macrocephaly 471 sleep 627 (PPT1) 113 –– molecular biology 484 Non-REM parasomnia 635, 636 Panayiotopoulos syndrome 195, 196, –– neurofibromin 485 Non-verbal learning disorder 231, 242, 251, 258, 282, 285, 309 –– nonspecific subcortical hyper- (NVLD) 23 Pantothenate kinase-associated intensities 484 Noxious stimulation, EEG recording 595 neurodegeneration (PKAN) 64, –– optic nerve gliomas 484 Nutritional deficiencies 491 127, 420, 445 –– pheochromocytoma 471 Papilledema 490 –– schwannomas 484 Paradoxical myotonia 514 –– scoliosis 471 O Paramyotonia congenita 367, –– sphenoid wing dysplasia 471 Occipital encephaloceles 606 514, 528 Neurofibromatosis type 2 Occult spinal dysraphism 657 Paraneoplastic myelitis 655 (NF2) 568–570 Occupational therapy 10 Parasomnias 627, 629 –– bilateral schwannomas of cranial Ocular alignment 587, 588 Parenchymal cord lesion 656 nerve VIII 474 Ohtahara syndrome 198 Parietal sharp waves 293 –– clinical manifestations 474 Oligodendrogliomas 579, 616 Parkinson’s disease 593 –– CNS tumors 474 Opiates 355, 677 Paroxysmal events 239 –– diagnostic criteria 474 Opioids 373 Paroxysmal exertional –– merlin 475 Oppositional defiant disorder 18, 21 ­ 462 –– pathophysiology 474 Opsoclonus-myoclonus-ataxia (OMA) Paroxysmal hypnogenic –– unilateral CN VIII schwannoma 474 syndrome ­dyskinesias 455, 462 –– vestibular schwannomas 487 –– clinical presentation 555, 556 Paroxysmal kinesigenic dyskinesias Neuroleptic malignant syn- –– neuroblastoma 557 (PKOs) 455, 462 drome 676, 678 –– paraneoplastic syndrome 557 –– anticonvulsants 462 Neuroleptics side effects 23 Opsoclonus myoclonus syndrome –– clinical presentation 462 Neurological dysfunction 35, (OMS) 565, 566 –– familial/sporadic 462 126, 152 –– clinical presentation 492 –– sudden movement 462 739 N–R Index

Paroxysmal 239 Pineoblastoma 574 Pseudo tumor cerebri 369, 374, 568 Paroxysmal non-epileptic spells 279 Pituitary apoplexy 571 Psychiatric evaluation 343 Paroxysmal non-kinesigenic PKAN, see Pantothenate kinase- Psychogenic headaches 372 (PNKD) 455, 462 associated neurodegeneration Psychogenic movement disorders Parry-Romberg syndrome 478 PKU, see Phenylketonuria –– psychological intervention 464 Partial monosomy 13q 79 Placenta 365 –– treatment 464 Passive range of motion 644 Plasmapheresis 493 Psychogenic seizures 26, 325 Patau syndrome 79, 138 Plexiform neurofibromas 469 Psychomotor retardation 81 Paternal chromosome 1Sq11–13 PMP22 64, 523, 525 PTEN 39 deletion 69 Poliomyelitis 404, 545, 651 Pyramidal system, limb Pavor nocturnus 624, 628 Polymicrogyria 36, 73, 97, 98 hypotonia 613 PCR 392, 393 Pompe’s disease 42, 504, 514 Pyridoxine 678 PDD Assessment scale/ screening Ponto-bulbar Palsy with Deafness 72 Pyridoxine-dependent epilepsy 261, questionnaire 2 Porencephaly 97 276 Pediatric genetic epilepsy 243 Posterior dominant alpha rhythm 291 Pyruvate dehydrogenase (PDH) Pediatric neurologists 278 Posterior fossa tumors 556 deficiency 140 Pelizaeus-Merzbacher disease 82 Posterior reversible encephalopathy 6-Pyruvoyl tetrahydropterin synthase Perampanel 273 syndrome (PRES) 500, 501, 717 (PTS) 424 Perinatal asphyxia 295, 666 Postictal paralysis 313 Periodic hyperkalemic paralysis 537 Post-immunization encephalopa- Periodic lateralizing epileptiform thy 303 Q discharges (PLEDS) 391, 593, 594 Posttraumatic stress disorder 289 Quadriparetic CP 663, 668 Periodic migrainous neuralgia 344 Post-traumatic transient cortical Quadriplegia 665 Peripheral myelin protein 22 (PMP22) blindness 690 Quetiapine fumarate (Seroquel®) 677 gene 525, 547 Postural dystonia 454 Quinoid dihydropteridine reductase Peripheral nerve hypertrophy 525 Prader Willi Syndrome (PWS) 46, 414 (QDPR) gene mutations 424 Peripheral neuritis 382, 676 Pregnancy Peripheral neuropathy 510 –– chorioamnionitis 396 Periventricular leukomalacia 669 –– GBS bacteriuria 396 Periventricular nodular –– premature rupture, R ­heterotopia 78, 113 membranes 396 Ramsay-Hunt syndrome 407 Peroxisomal biogenesis disorders Preinjury cognitive assessment 696 Rapid Anticonvulsant Medication (PBD) 56, 124 Prematurity 662 Prior to Arrival Trial (RAMPART) Peroxisomes 103, 118, 124 Prenatal exposure to alcohol 414 study 268 Pervasive developmental disorder Prenatal ischemia 35 Rasmussen’s encephalitis 406 (PDD) 667 Pre-optic nucleus 608, 609 Rebound headaches 357 Petechial hemorrhages 702 Primary brainstem gliomas 701 Reflex sympathetic dystrophy 362 Phelan-Mc Dermid Syndrome-22q13 Primary CNS lymphoma (PCNSL) 578 Refractory epilepsy 271 deletion syndrome 45 Primary CNS vasculitis 711 Refractory infantile spasms 13 Phenobarbital works 324 Primary generalized epilepsy REM atonia 630 Phenylketonuria 53, 131, 180, (PGE) 315 REM sleep 635, 639 431, 434 Prion diseases 312 REM sleep behavior disorder –– phenylalanine hydroxylase Progressive cerebellar atrophy 454, (RBD) 632 gene 424 455, 464, 465 Renal artery stenosis due to renal Phenytoin 178, 327 –– on neuroimaging 455 artery dysplasia 471 Phenytoin approaches zero-order Progressive cognitive and motor Repetitive soothing/stimulating kinetics 601 impairment, phenylketonuria 457 behaviors 596 Phophofructokinase deficiency 535 Progressive HIV encephalopathy 380 Research Society of Alcoholism Fetal Phosphoglycerate mutase –– anti-retroviral therapy 381 Alcohol study 21 ­deficiency 534 Progressive multifocal leukoencepha- Restless leg syndrome (RLS) 624 Photic stimulation (PS) 296, 595 lopathy (PML) 381 –– in childhood 626 Photomyogenic response 296 Progressive subacute ataxia 554 –– diagnosis and epidemiology Pilocytic astrocytoma 555 Prophylactic therapy 372 626, 627 Pineal parenchymal tumor 574 Propionic acidemia 432 Retigabine 270 Pineal region tumors Protein C deficiency 722 Retinal disease 588 –– histopathology 617 Pseudohypertrophic muscular Retinal hemorrhages 692 –– prognosis 572 dystrophy 519 Retinal vein occlusion 721 740 Index

Retinitis pigmentosa 426 Selective serotonin re-uptake Sodium channel (SCN) Retinoblastoma 104, 588, 589 inhibitors (SSRIs) 676, 678 subunits 306, 612 Retrograde degeneration 612 Selegiline 675 Sonic hedgehog (SHH) protein 207 6, 81, 139, 412, 413, Sensorineural hearing deficits Sotos syndrome 19, 181 419 (deafness) 72, 592, 698 Spasmus nutans 456, 457 Reversible cerebral vasoconstriction Sensory distortions 249 Spastic diparesis 380 syndrome 714 Septic cavernous sinus Spasticity, internal capsule 613 Reversible posterior leukoencepha- thrombophlebitis 718 Speech/language therapy 10, 181 lopathy syndrome 616, 617 Septo-optic dysplasia 35, 95, 102, Sphingomyelinase deficiency 110 679 114, 603 Spina bifida 597, 612 Rhabdomyosarcoma 568 Serious atherosclerosis formation 722 –– severe form of 658 Rhythmic myoclonus 459 675, 676, 678 –– physical complications 95, 655 Right facial nerve lesion 589 Serum prolactin levels 315 Spina bifida occulta 80, 657, 658 Right maxillary bone fracture 697 Serum toxicology 280 Spinal dysraphism 80 Right temporal bone impact or Severe myoclonic epilepsy of infancy Spinal muscular atrophy fracture 697 (SMEI) 179, 243, 274, 301, 328 (SMA) 544, 545 , bone conduction 592 –– See also Dravet syndrome –– PMP2 471 Rizatriptan 373 Sexual abuse 293 –– SMN1 471, 544 Rolandic epilepsy 273 (SBS) 688, –– SMN3 527, 533 Roussy-Levy syndrome 547 689, 691 Spindle delta brushes 293 Routine neuroimaging 346 Shaken infant syndrome (Non- type Rubinstein-Taybi syndrome 475 accidental trauma) 691 6\”diagnosis 616 Rufinamide 269 SHANK3 45 Standardized Assessment of Ruptured intracranial aneurysms 692 Shoulder dystocia 644 Concussion (SAC) 696 Sialidosis 128, 439, 440 Staphylococcus aureus 401, 402 –– type 1 A 74, 438 Statins 505 S Sickle cell anemia 499, 713, 723 Status epilepticus 268, 288 Sickle hemoglobin 499 Status migrainosus 375 Sacral agenesis 596 Simple febrile seizures (FS) 313, Stimulants 24 Sagital Sinus 706 318, 327 Stressful events 27 Sandhoff disease 110 SIRPIDs 597 Sturge-Weber syndrome (SWS) 143, Sandifer syndrome 253 SLC2A1 277 233, 481, 483, 488, 496, 716 Sanfilippo syndrome 47, 125, 425, Sleep deprivation 595 –– clinical findings 473, 479, 481 667 –– EEG 596 –– facial port wine stains 486 Sarcoglycan deficiency 541 Sleep disorders 629 –– neurologic manifestations 481 Sarcoidosis 389 –– adenotonsillectomy 624, 625 –– porencephalic cyst 473 Scheie syndrome 425, 437 –– differential diagnosis 628 –– port-wine stain 473 Schindler disease 73 –– ferritin 624 –– spinal dural angioma 481 –– alpha-N-acetylgalactosaminidase –– frontal lobe Subacute encephalopathy 490, 491 deficiency 438 differentiation 633 Subacute necrotizing encephalomy- Schizencephaly 32–34, 67, 97, 98, 661 –– stage 3 and 4 sleep peaks during elopathy 133 Schwannomatosis 475 adolescence 633 Subacute neuropsychiatric syn- SCN1A 274 –– treatment 627, 628 drome 22 Scoliosis progression 646, 653 Sleepiness 271 Subacute regression 242 Scurvy 177 Sleep pattern 229 S1 dorsal root ganglia 621 Sleep phenomena 631 (SAH) 692, 720 Segawa disease 448 Sleep, stages 595 Subcortical band heterotopia 99 Seizure 26, 30, 31, 33, 36, 102, 324, Sleep terrors 627–629, 633 Subdural 691 541, 619 Sleepwalking 627, 632, 636 Subdural hemorrhages 699 –– absence 308 SLOS, see Smith-Lemli-Opitz Subependymal giant cell astrocytoma –– activity 614 syndrome (SEGA) 66, 486, 559 –– cessation of 305 Small capillary hemangioma 649 –– diagnosis 480 –– disorder 619 Small cell cancer (SCLC) 539 –– MRI 480 –– febrile 247 Small ring-enhancing lesion 699, 700 Sudden discontinuation of neurolep- –– semiology 281 Smith-Lemli-Opitz syndrome tics 450 –– threshold 684 (SLOS) 123 Sudden unexplained death in –– types 241 epilepsy (SUDEP) 275 741 R–W Index

SUDEP, see Sudden unexplained death Transient neonatal myasthenia gravis Upper plexus injury 644 in epilepsy (TNMG) 512 Urea cycle disorders (UCDs) 51, 126, Sudomotor axon reflex test 352 Transient tic disorder 445, 446, 429, 430 Suicidal ideation 27 451, 452 Uridine diphosphate glucuronosyl- Sumatriptan 373 Transient visual loss 371 transferase (UGT) 266 Superior orbital fissure syndrome 726 Transitory myasthenic syndrome 545 Urine CMV culture 383, 384 Supportive care 313 (TM) 647, 68 Surveillance of Cerebral Palsy in 655, 658 Uvulopalatopharyngoplasty 640 Europe (SCPE) 664 Traumatic brain injury 608 Survival motor neuron (SMN) Treacher Collins Syndrome 173 region 516, 526 Treximet 370 V Suspended sensory loss 645 Trigeminal dysesthesia 344 Sydenham chorea 446, 452 Trigeminal neuralgia 344 Vagal nerve stimulation (VNS) 283 –– in childhood 458 Tripeptidyl peptidase 1 (TTP1) 89 Valproate (VPA) 182, 201, 332 –– etiology 458 Triphasic waves 597 Valproic acid 121, 296, 313, 369, 680 –– group A beta Hemolytic 453 Trisomy 13 79, 138 Varicella-zoster virus (VZV) 716 –– Jones criteria for rheumatic Trisomy 18 79, 138 Vascular stenosis 713 fever 453 Trisomy 21 79 Vasculitis 679 Synaptic vesicle protein Tuberculomas 380 Vein of Galen malformation (SV2A) 315, 603 Tuberous sclerosis (TS) 62, 67, 388, (VGM) 719, 720, 725 Syringomyelia 106, 645 559, 618 Velocardiofacial syndrome 69 –– ash-leaf hypo-pigmented Venlafaxine 684 macules 485 Venous sinus thrombosis 724, 725 T –– cerebral cortical tubers 473 Ventriculo-peritoneal shunting 614 –– Confetti macules 485 Very long chain fatty acid Tangier disease 107 –– retinal astrocytoma 488 (VLCFA) 134 Tardive dyskinesia, dopamine –– sub-ependymal nodules 473 Vestibular neuritis 407 receptor 457 Tuberous sclerosis complex (TSC) 62, Vestibular schwannomas 560, 561, Tay-Sachs disease 57, 77, 81, 110, 439 469, 471, 472, 475, 559, 570 577, 578 TEACCH program 10 –– angiokeratomas 476 Vigabatrin (VGB) 190, 216, 255, Temporal lobe epilepsy 265, 304 –– ash leaf spots 477 268, 322 Temporal rhythmic delta activity –– flexor/extensor myoclonus 477 Vincristine 681 (TIRDA) 597 –– genetics 480 387 Temporal sharp waves 293 –– hamartomas 477 Viral meningitis 394 Tendon reflexes 644 –– hypo-pigmented streaks or Vitamin B12-responsive methylmalo- Tethered cord syndrome (TCS) 646, patches 478 nic academia (MA) 59 649, 653, 654 –– periungual fibroma 476 Vitamin D deficiency 122 Thomsen’s disease 518, 536 –– subungual fibromas 476 Voltage-gated calcium channels Thyroid hormone test 490 –– TSC1 gene 581 (VGCCs) 539 Thyroid ophthalmopathy 501, 502 –– TSC2 gene 581 von Hippel Lindau disease 479, 557 592 Tympanometry with pneumatic Tissue plasminogen activator, in testing 592 children 499 Type 1 Arnold-Chiari Tizanidine 671 W malformation 651 Todd paralysis 313, 479 Type 1 Chairi malformation 32 Walker-Warburg syndrome 45, 534, Tonic neck reflex 600 Type I sialidosis 130 550 Tonic seizure 262 , bone conduction 592 Topiramate 191, 315, 369, 374 Welander myopathy 534 (DYT1 dystonia) 445 Werdnig-Hoffmann disease 516 Total plexus injury 644 U –– See also Spinal muscular atrophy Tourette syndrome (TS) 6, 446, UCD, see Urea cycle disorders (SMA) type 1 447, 451 Ullrich’s congenital muscular West Nile virus infection 390 –– diagnosis 448 dystrophy 541, 550 West syndrome 179, 243, 264, 267, –– pharmacotherapy 448 Uncal herniation 723 312, 317 –– pimozide 453 Unilateral deafness, cranial nerve White matter function disorder 421 Trace discontinu 277 VIII 613 Wicket spikes 597 Transient motor tics of childhood 459 Unilateral headaches 356 William’s syndrome 69, 410 742 Index

Wilson’s disease 61, 303, 429, 438, 456 Xeroderma pigmentosum (XP) 93 Wolfram syndrome 71 X-linked adrenoleukodystrophy Z Wonderland syndrome 348 (X-ALD) 44 Zellweger syndrome 43, 56, 103, 118, Wyburn-Mason syndrome 92 X-linked lissencephaly 91 124 Zolmitripan (Zomig) 370 X Y Zonisamide 296, 322 Xanthochromia 720 Yolk sac tumors 573, 582