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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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Abducens nerve palsy,
Moebius syndrome, 164,181
Abscess, 257
Abuse, 308
Achondroplasia, 124
Acid maltase deficiency, 131, 133
Acidemia,
argininosuccinic, 79
glutaric, type 287
isovaleric, 74
methylmalonic, 76
propionic, 76
Acidosis, lactic, 65, 78, 81
Acute bilirubin encephalopathy, 67
Acyclovir, 69
Adrenoleukodystrophy (neonatal), 113-115
Agenesis of the corpus callosum, 281
Agenesis of the depressor angularis oris, 184
Agyria,
lissencephaly, 47-49
Aicardi syndrome, 281, 52
Alexander disease, 288
Alloisoleucine, 72
Alpha motor neuron, 92
diseases, 99-100
Amino acid metabolism disorder,
branched-chain amino acids, 72
hyperglycinemia, 74, 76
leucine, 71
urea synthesis, 79
Amniotic band, 265
Ammonia metabolism, 79
Arm monoparesis, 201- 226
Amyoplasia congenita, 162
Antley-Bixler syndrome, 154
Antibiotics for meningitis, 44-45
Anticonvulsant fetal syndrome, 272
Antiepileptic drugs, 57-59
Antithrombin III deficiency, 245
Aplasia cutis congenita, 305
Apnea 1, 13-38,
central, 17
definitions, 2
feeding, 30
gastroesophageal reflux, 33
monitors, 36
pulmonary disease, 35
prematurity, 29
seizures, 1, 21-22
systemic illness, 35
types, 18-21
upper airway abnormality, 34
Aqueductal stenosis, 293
X-linked (Bickers-Adams syndrome), 293
Arachnoid cyst, 26-27
Argininosuccinic acidemia, 79-80
Arm weakness, 207
Arthrogryposis, 151-168, 193
due to cartilaginous abnormalities,153
due to neurological abnormalities, 157
due to space constraint, 156
Ascending reticular activating system (ARAS), 61
Asphyxia, 55
Astrocytoma, 257
Autosomal dominant microcephaly, 280
Axonal polyneuropathy, 134

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Bacterial meningitis, 44-45
Bathrocephaly, 293
Beals syndrome, 153
Beckwith-Weidemann syndrome, 40
Behavioral movements, 7
Benign familial neonatal seizures, 56
Benign nonfamilial neonatal seizure, 57
Benign jitteriness, 7
Benign neonatal sleep myoclonus, 6
Bilirubin encephalopathy, 67
Biotinidase deficiency, 43
Bloch-Sulzberger syndrome, 298
Blue sclera, 91
Botulism, 138-139
apnea, 33
hypotonia, 138
Brachial plexus palsy, 203, 214-222, 260-265
due to hemangioma, 265
due to humeral osteomyelitis, 265
due to neck compression, 265
due to tumor, 265
Brachmann-de Lange syndrome, 273
Brainstem lesions,
apnea, 25
Brain tumors, 46, 257, 288
Breathing,
apparatus, 13-16
Branched-chain amino acid disorders, 72
Brushfield spots, 111

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Caffeine, 30
Canavan disease, 114, 288
Carbamyl phosphate synthetase deficiency, 80
Carbohydrate metabolism disorders, 81
Carbohydrate-deficient glycoprotein syndrome, 123
Carnitine deficiency, 148
Caput succedaneum, 106, 284
Cauda equina lesion, 265
Central core disease, 146
Cephalohematoma, 106, 285
Cerebral infarction, 55, 244
Cerebrohepatorenal syndrome, 113, 160
Cerebro-oculo-facio-skeletal syndrome, 162
Cerebrospinal fluid examination,
bacterial meningitis, 44
herpetic meningitis, 45
Cervical spinal cord injury, 124-128
C1-C2 subluxation, 31
CHARGE, 114
Chickenpox, congenital, 264
Choroid plexus papilloma, 257
Chronic inflammatory demyelinating polyneuropathy, 136
Citric acid disorders, 78-79
Cleland-Chiari malformation, 27, 121
Clinical paroxysmal events, 1
Clonus, 97
Coma, 61-85
differentiating coma from, 65
death, 63-64
hypotonia, 64-65
status epilepticus, 64
sleep, 62-63
treatment, 82-84
Common oculomotor system,
anatomy, 188
dysfunction, 189
Cobb syndrome, 307
Condylomata lata, 91
Congenital fiber type disproportion, 146
Congenital hypomyelinating neuropathy, 135, 164
Congenital hypoventilation syndrome, 25, 30
Congenital muscular dystrophy, 144, 166
Congenital myopathy with typical light microscopic findings, 146-147
Congenital myotonic dystrophy, 104, 142, 165
Congenital pontocerebellar hypoplasia, 123
Congenital sensory neuropathy, 137
Congenital sensory neuropathy with anhidrosis, 135
Congenital varicella syndrome, 306
Continuous video EEG telemetry, 4
Convulsion, 2, 8-9
definition, 2
increased cerebral perfusion, 9
Corpus callosum agenesis,
Aicardi syndrome, 281
Cortical thumbs, 97
Costello syndrome, 101
Craniocarpotarsal dysplasia, 166
Cretinism, 110
Cri-du-chat syndrome, 276
Cutis congenital, aplasia, 305
Cytochrome-C oxidase deficiency, 80
Cytomegalic inclusion disease, 277

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Dandy-Walker malformation, 28, 117, 293
Death, brain, 63
Decreased limb movements, 194-199

pain, 194
weakness, 197
Degenerative diseases, 112
de Morsier syndrome, 257
Dermal sinus, 307
Depakote, 59
Depressor angularis oris, 185
Diaphragmatic paralysis, 218
Diastrophic dysplasia, 154
DiGeorge syndrome, 41
Dihydrolipoyl dehydrogenase deficiency, 71
Distal arthrogryposis, 165
Down syndrome, 111, 275
Duchenne-Erb palsy, 216
Dysautonomia, familial, 135
Dynamic tone, 96
Dystrophy,
muscular, 144
myotonic, 142

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Edrophonium, 141
Ehlers-Danlos syndrome, 101
Electroencephalographic,
seizure, 2
Encephalocele, 258
Encephalocraniocutaneous lipomatosis, 304
Encephalopathy, acute, 61-85
Errors of metabolism, 70-81
Escobar syndrome, 156
Escherichia coli, 44
Erb palsy, 216
Epidural hematoma, 108, 250
Extrapyramidal movements, 9

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Facial,
asymmetry, 170-191
molding, 171
motor system, 175
nerve branch lesions, 184
nerve lesions, 171, 181, 183, 208, 259
Facioscapular humeral dystrophy, 144
Familial dysautonomia, 135
Farber syndrome, 104, 113
Fascicular syndrome, 221
Fatty acid metabolism disorders, 81
Fetal alcohol syndrome, 271
Flaccid arm monoparesis, 211
Flaccid leg monoparesis, 235

Focal spinal muscular atrophy, 163
Folinic deficiency seizures, 43
Fracture, skull, 105
Freeman-Sheldon syndrome, 166
Fructose-1,6-diphosphatase deficiency, 81
Fructose intolerance, hereditary, 81
Fukuyama-type congenital muscular dystrophy, 145

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Ganciclovir, 278
Ganglioiside metabolism disorders,
GM1 gangliosidosis, 113
Gelastic seizures, 9
Gentamicin, 45, 68
Germinal matrix hemorrhage, 255-256
Giant axonal neuropathy, 135
Glucagon, 40
Glutathione synthetase deficiency, 67
Glutaric acidemia, type I
, 71, 287
Glutaric acidemia type II, 75,
Glycine encephalopathy, 75-76,
Glycogen metabolism disorders,
acid maltase deficiency, 133
glycogen musce disease, 147
GM1 gangliosidosis, 104, 113
Graves disease, 7
Group B streptococcus, 44
Guillain-Barre syndrome, 136

H Top



Head circumference measurement, 283
Head trauma, 106
Hematoma, 250
extra-axial, 250
intra-axial, 251
Hemifacial hypertrophy, 172
Hemiparesis, 198, 236
Hemimegalencephaly, 49, 172
Hemorrhage, 22, 250
Hereditary myasthenia gravis syndromes, 141
Herpes simplex, 45, 68, 280
Heterotopia, 50-51
syndromes with, 51
Hiccups, 7, 76
with glycine encephalopathy, 76
Hipomelanosis of Ito, 309
Holocarboxylase, 75
Holoprosencephaly, 157
Horner syndrome, 180, 215
Hydrocephalus, 290-293
aqueductal stenosis, 293
Dandy-Walker malformation, 293
intracranial hemorrhage, 291, 253
treatment, 292, 255
Hydroxymethylglutarate CoA lyase, 71
Hyperammonemia, 76, 79, 80
Hyperbilirubinemia, 67
Hyperekplexia, 10, 30
Hyperglycinemia, 75
Hypermagnesemia, 139
Hyperornithinemia-hyperammonemia-homocitrulinuria syndrome, 80
Hyperphenylalaninemia fetal syndrome, 271
Hypnotic-sedative withdrawal, 10
Hypocalcemia, 40
Hypoglossal injury, 31
Hypoglycemia, 40
Hypomelanosis of Ito, 309
Hypomyelinative, neuropathy, congenital, 136
Hyponatremia, 42
Hypoparathyroidism, transient congenital, 41
Hypothryroidism, congenital, 110
Hypotonia,
generalized, 87-102
upper motor neuron system, 103-128
motor-sensory unit, 129-150
Hypoxic-ischemic encephalopathy, 40, 56, 110

I Top



Idiopathic hypoventilation syndrome 25, 30,
Inborn error of metabolism, 45, 71-81
Incontinentia pigmenti, 131, 298
Incontinentia pigmenti acromians, 309
Infantile botulism, 138
Infantile neuroaxonal dystrophy, 114
Infantile neuronal degeneration, 163
Infantile porphyria, 137
Infantile spinal muscular atrophy, 131, 163
Infarction, 244
arterial,
brain, 245
cerebellar, brainstem and spinal cord, 248
Infarction, spinal, 126, 244
Infantile sialic acidosis storage disease, 113
Infectious disease,
bacterial meningitis, 44
cytomegalic inclusion disease, 277
herpes simplex encephalitis, 45
toxoplasmosis, 278
Infratentorial subduralhemorrhage, 69
Intracerebellar hemorrhage, 69
Intracerebral hemorrhage, 69
Intracranial hemorrhage/hematoma, 52, 69-70, 251
Intraventricular hemorrhage, 54, 251-255
Isoleucine, 72
I
sovaleric acidemia, 71

J Top



Jitteriness, 7
Joubert syndrome 28, 119

K Top



Klippel-Trenaunay syndrome, 297
Klumpke palsy, 187, 220

L Top



Lactate:pyruvate ratio, 81-82
Lactic acidosis, 65, 78, 81
Leg mononeuropathy, 227
Leukodystrophy, 114
Leukomalacia, 247
Leucine metabolism, 71-75
Linear nevus sebaceous, 302
Lipid metabolism disorders, 148
Lissencephaly, 47-49
Listeria monocytogenes,
44
Lowe's syndrome, 111
Lumbar plexus injury, 227
Lumbar puncture, 67-69, 83
Lumbosacral blemish, 307
Lumbosacral plexus, 229
damage, 266

M Top



Macrocephaly, 283-294
Mannitol, 56
Maple syrup urine disease, 71
Marden-Walker syndrome, 162
McArdle disease, 147
Meckle-Gruber syndrome, 258
Median nerve injuries, 225, 266
Medulloblastoma, 257
Megacisterna magna, 118
Megalencephaly, 283-295
Menkes disease, 114
Meningitis, 67-69
Meningocele, 258
Metabolic disorders,
evaluation, 81
Metabolic megalencephaly, 287
Methylmalonic acidemia, 71
Microcephaly, 269-282
Microcephaly vera, 275
Microlissencephaly, 282
Miller-Dieker syndrome, 47, 274
Minimal change myopathy, 146
Mitochondrial respiratory chain disorders, 80
Mobius syndrome, 164, 181
Molybdenum cofactor deficiency, 77
Monoparesis, 197
Monoparesis, arm 201-226

Movement arousal, 8
Multiple carboxylase deficiency, 71, 74-75
Multiple acyl-CoA dehydrogenase deficiency, 80
Multiple pterygia syndrome, 156
Muscular dystrophy, 166
Myasthenia gravis, 33, 140-142, 164
Myasthenic syndrome, 141
Myelomeningocele, 28, 122, 258
Myopathies due to glycogen metabolism abnormalities, 147
Myotubular myopathy, 146, 166
Myositis, infantile, 145
Myotonic dystrophy, 142, 165
apnea, 33
Myotubular myopathy, 146, 166

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N-acetylglutamic acid synthetase deficiency, 80
Narcotic-analgesic withdrawal, 10
Nemaline (rod) myopathy, 146
Neonatal adrenoleukodystrophy, 113
Neonatal facial asymmetry, 169-192
Neostigmine, 141
Nerve injuries, 266
Neuroaxonal dystrophy, 104
Neuroblastoma, 257
Neurocutaneous melanosis, 301
Neurocutaneous syndrome, 287, 295-308
Neurofibromatosis, 301
Neuromuscular disorders,
pathophysiology, 92-100
physiology, 92-100
Neuromuscular transmission disorders, and hypotonia,
botulism, 138
genetic myasthenias, 141
transitory neonatal myasthenia, 140
Neuronal-axonal disease unassociated with Werdnig-Hoffmann disease, 135
Neurocutaneous melanosis, 303
Neurofibromatosis, 301

O Top


Occipital Osteodiastasis, 70
Ocular pterygium, 173
Oculocerebrorenal syndrome, 111
Oculomotor nerve palsy, 188
Oculosympathetic motor system dysfunction, 186
Oligohydramnius sequence, 165
Ornithine transcarbamylase deficiency, 79, 80
Osteogenesis imperfecta, 91
Osteopetrosis, 285
Otahara syndrome, 57

P Top


Pain,
decreased limb movements, 194
Papilloma, choroid plexus, 257
Paraparesis, 237
Paroxysmal motor events 1, 5-12
benign, 5-8
differential diagnosis, 10-11
pathological, 8-12
Pascual Castroviejo type II, 310
Pena-Shokeir I syndrome, 158
Pena-Shokeir II syndrome, 159
Periventricular-intraventricular hemorrhage, 250-251
Periventricular leukomalacia, 247
Periventricular hemorrhagic infarct, 249
Peroneal nerve injuries, 266
Peroxisomal disorders, 113
PHASE syndrome, 310
Phasic (dynamic) tone, 105
Phenobarbital, 58
Phenytoin, 58
Phosphorylase deficiency, 147
Physiologic reflex, 7
Plagiocephaly, 171
Poliomyelitis, 134
Polymyositis, 145
Pompe's disease, 131
Porencephaly, 254
Porphyria, 137
Posterior fossa tumors, 26
Polycythemia, 66-67
Polysomnography 16-18
Polymicroglia, 49
Polyneuropathy, 136
Posterior fossa arachnoid cyst, 119
Postural tone, 87
Prader-Willi syndrome, 111
Primitive reflex 7
Propionic acidemia, 71, 76-77
Protein C, 54, 245
Protein S, 54, 245
Pseudoparalysis of Parrot, 91
Pseudomonas aeuriginosa, 44
Pyridoxine dependency, 43
Pyrimethamine, in toxoplasmosis, 279
Pyruvate dehydrogenase complex deficiency, 78
Pyruvate metabolism disorders, 78

Q Top


Q-oTC interval, 41

R Top


Radial nerve injuries, 224, 266
Reflexes,
Moro reflex, 96
stretch muscle, 97
Renshaw cells, 94
Retinal bleeding, 107, 308
Rett syndrome, 81
Respiratory centers,
dorsal 15-16
ventral 15-16
Riley-Day syndrome, 135
Robert SC phocomelia syndrome, 274
Romboencephaloclasis, 120
Rubella embryopathy, 279

S Top


Sandhoff disease, 113
Schizoencephaly, 46, 257
Schwartz-Jampel syndrome, 166
Sciatic nerve, 266
Seizures, 2, 8, 39-59
asphyxia, 55
brain tumors, 46
cerebelar, 2
cerebral dysgenesis, 46-52
Cryptogenic neonatal seizures, 57
differential diagnosis, 39-59
gelastic, 9
glucose transport disorder, 43
etiological, 39-56
hypocalcemia, 40-41
hypoglycemia, 40
hyponatremia, 42
hypernatremia, 42
inborn errors of metabolism, 45
infectious disorders, 44-45
intoxication, anesthetics, 42
intracranial hemorrhage, 52-54
malignant migrating partial seizure of infancy, 57
Otahara syndrome, 57
patterns, 8-9
pyridoxine, 43
treatment, antiepileptic drugs, 57-58
Sepsis, 69
Spina bifida, 121
Spinal muscular atrophy,
cervical, 163
lumbar, 163
Spinal muscular atrophy with respiratory distress type 1, 32 , 132
Sialidosis, 113
Sinus, dermal, 307
Single photon emission tomography, 3
Skull and scalp injuries,
caput succedaneum, 106, 284
cephalohematoma, 106, 285
Skull fracture, 106
Skull fracture,
linear, 107
depressed, 107
subgaleal hemorrhage, 106, 284
Smith-Lemli-Opitz syndrome, 159
Soto syndrome, 287
Spastic arm monoparesis, 207
Spastic leg monoparesis, 233
Spinal cord,
injuries, 31
tumors, 257
Staphylococcus aureus, 44
Startle disease, 10, 30
Stenosis, aqueductal, 293
Sternocleidomastoid tumor of infancy, 268
Sturge-Weber syndrome, 295
Stuve-Widerman syndrome, 166
Subcortical release phenomena, 9, 105
Subarachnoid hemorrhage, 53, 251, 286
Subdural hemorrhage, 53, 250, 286
Subgaleal hemorrhage, 106, 284
Sulfadiazine, in toxoplasmosis, 279
Sulfite oxidase deficiency, 71, 77
Spinal cord injury, 163
Suspension,
horizontal, 90
vertical, 89
Syphilis, 91

T Top



Teratogenic microcephaly, 270
Teratoma, 257
Thalamic hemorrhage, 252

Theophylline, 30
Tone,
evaluation, 87-90
phasic, 98
postural, 87
Toxoplasmosis, 278-279
Traction response, 88
Transient hyperammonemia of the preterm infant, 80
Transitory myasthenic syndrome, 140, 164
Transmission disorders, neuromuscular, 137-142
Transtentorial herniation, 23
central, 23
uncal, 23
Trisomy 13 syndrome, 157, 276
Trisomy 18 syndrome, 158, 276
Tuberous sclerosis, 299
Tumors, brain and spine, congenital, 257

U Top



Ulnar nerve injury, 226, 234
Uncal herniation, 23
Upper extremities diparesis, 239
Upper-middle trunk syndrome, 219
Upper motor facial asymmetry, 177
Urea synthesis disorders, 79

V Top



Valine, 72
Valproic acid, 59
Varicella-zoster virus, 306
Varicella syndrome, congenital, 306
Vein of Galen aneurysm, 289
Ventricular drainage, and progressive hydrocephalus, 254
Ventriculitis, 44
von Hippel-Landau, 256

W Top



Walker-Warburg syndrome, 161
Werdnig-Hoffmann disease, 32, 131,199
Whistling face syndrome, 166
Williams syndrome, 273

Z Top



Zellweger syndrome, 113, 160

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