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Differential
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abdominal distention
acetylcholine receptor antibody
acid maltase deficiency
aciduria
acquired immunodeficiency syndrome
acquired immunodeficiency syndrome dementia complex
acquired immunodeficiency syndrome, congenital
acquired immunodeficiency syndrome, infants and children
acrocyanosis
acromicria
adverse drug reaction
agenesis of corpus callosum
Aicardi-Goutieres syndrome
airway obstruction
alternating hemiplegia
alternating hemiplegia of childhood
aminoacidurias
amitriptyline
amniocentesis
anemia
anemia, megaloblastic
Angelman syndrome
angiokeratoma
anorexia
anterior horn cell disease
antitoxin
antiviral agents
apnea
areflexia
arrhythmia, cardiac
arthrogryposis multiplex
aspartocyclase
ataxia
ataxia, cerebellar
ataxia, truncal
ataxic gait
athetosis
athetosis, infant
ATP1A3 gene
attention deficit disorder with hyperactivity
atypical
autism
autonomic dysfunction
B 12 deficiency
B 12 deficiency, infants
Babinski sign in new born
bacterial infection
basal ganglia, calcification of
basal ganglia, lesion of
basal ganglia, lesion, bilateral
behavior, combative
behavioral disorder
biopterin deficiency
birth injury
blindness
bone biopsy
bone density
bone density, increased
bone marrow transplantation
botulinum toxin
botulism
botulism antitoxin
botulism immune globulin
botulism, infant
bradycardia
brain atrophy
brain biopsy
brainstem, atrophy
breast feeding
breech delivery
Brown-Vialetto-Van Laere syndrome
bulbar palsy
bulbar palsy, childhood
calcification, intracranial
Canavan's disease
canned food
cardiac surgery, hypothermia and circulatory arrest for
cardiac surgery, neurologic complications with
cardiomyopathy
CAT scan
CAT scan, abnormal
celiac disease, childhood
central core disease
central nervous system, infection of
cerebellar atrophy, primary
cerebellar degeneration
cerebellar disease, eye movement disorder in
cerebellar hypoplasia
cerebellar vermis
cerebral cortical atrophy
cerebral embolism
cerebral gigantism
cerebral infarction
cerebral palsy
cerebral palsy, associated problems with
cerebral venous thrombosis
cerebrospinal fluid
cerebrospinal fluid, abnormal
cerebrospinal fluid, elevated protein of
cerebrospinal fluid, protein of
cerebrospinal fluid, proteincytologic dissociation
cerebrospinal fluid, red cells in
cerebrospinal fluid, xanthochromia of
cerebrovascular accident
cerebrovascular accident, infancy and childhood
cerebrovascular accident, intrauterine
cerebrovascular accident, neonatal
cerebrovascular accident, postpartum
cervical spine injury
cherry red spot
chilbran skin lesions
child abuse
children
chorea
choreoathetosis
chorioamnionitis
chorioretinitis
chromosomal abnormality
chromosome 1
chromosome 15
chromosome 5
chromosome 6
Clinical Pathologic Conference(C.P.C.)
clubfoot as related to neurologic disease
cobalamin C deficiency
cognition
cognitive delay
coma
congenital heart disease
congenital heart disease, CNS complications with
congenital infection, CNS
congenital infection, viral
congenital myopathy
congenital myopathy, inflammatory
consanguinity
constipation
contractures, joint
cornea, opacity of
corpus callosum
corpus callosum, thinning
cortical blindness
cranial neuropathy
cranial neuropathy, multiple
Craniosynostosis
creatine phosphokinase(CPK)elevated
cry, abnormal
cry, weak
crying
crying, pathologic
cryptorchidism
cultured skin fibroblasts
cyanosis
cytomegalic inclusion disease
cytomegalovirus infection
cytomegalovirus infection, congenital
deep gray nuclei
delay in diagnosis
delayed dentition
delivery, complicated
dementia
dementia, childhood
dentate nuclei
dentate nuclei, lesion of
descending paralysis
developmental abnormality of brain
developmental disability
developmental milestones
developmental milestones, loss of
developmental retardation
diagnostic criteria
diarrhea
diet
differential diagnosis
diphtheria-tetanus-pertussis immunization
dislocated hip, congenital
DNA sequencing
drooling
drug overdose
dural sinus thrombosis
dysarthria
dysmorphic
dysostosis multiplex
dysphagia
dyspnea
dystonia
dystonia, children
ear, abnormal
eating disorder
ecchymoses
echocardiogram
efficacy
electroencephalogram, abnormalities of
electromyogram
electron microscopy
embolism, paradoxical
encephalitis
encephalomyelitis
encephalopathy
encephalopathy, anoxic
encephalopathy, neonatal
enzyme, defect
epidemiology of neurology
epileptic encephalopathy
evoked potentials
exome sequencing
eye movement, disorders of
facial anomalies
facial appearance, abnormal
facial expression abnormality
facial weakness
facial weakness, bilateral
failure to thrive
familial
FARS2 deficiency
fasciculation
fatigue
feeding disorder
fetal movements, reduced
fetus
fever
fibrillations
fine motor function, impaired
floppy infant
fontanel, bulging
food poisoning
food-borne infection
forceps delivery
fucosidosis
fundus, abnormality of
gag reflex, depressed
gait disorder
gait, apraxic
gammaglobulin therapy, intravenous
gangliosidosis GM2
gene
gene mutation
genetic counselling
genetic diagnosis, prenatal
genetic linkage
genetic neurologic disorders
genetic screening
genetic testing
genital hypoplasia
globus pallidus, lesion of
globus pallidus, lesion of, bilateral
GLUT1
GLUT1 deficiency syndrome
gluten-free diet
glycogen storage disease
glycoprotein
Gowers maneuver
growth hormone deficiency
growth retardation
Guillain Barre syndrome
Guillain Barre syndrome, infantile and childhood form
hallucination
hand clapping
hand deformity
hand flapping
hand wringing
head bobbing
head circumference
head lag
hearing loss
hemorrhage, intracranial, newborn
hemorrhage, periventricular
hemorrhagic diathesis
hepatomegaly
hepatosplenomegaly
hexosaminidase-A
high arched feet
high arched palate
histochemistry
histochemistry of muscle
hoarseness
homocystinuria
honey
Horner's syndrome
Horner's syndrome, bilateral
Horner's syndrome, congenital
human genome
Hunter's syndrome
hydrocephalus
hydrocephalus, communicating
hydrocephalus, congenital
hydrocephalus, exvacuo
hydroxyglutaric aciduria
hyperbilirubinemia
hyperbilirubinemia, CNS abnormality after
hyperhomocysteinemia
hyperphagia
hyperpigmentation of skin
hyperpyrexia, CNS disorder causing
hyperreflexia
hypertelorism
hypertension
hypertonia
hypertrophic cardiomyopathy
hypodontia
hypogammaglobulinemia
hypoglycorrhachia
hypogonadism
hypokinesia
hypomyelination
hypopigmentation of skin
hyporeflexia
hypothermia
hypotonia
hypotonia, causes of
hypotonia, infants
hypoxic encephalopathy
imbalance
immunization, neurologic complications with
inappropriate antidiuretic(A.D.H.)hormone
inborn errors of metabolism
infant, evaluation of
infantile neuronal degeneration
infantile spasm
infection, recurrent
intellectual deficit
intellectual deterioration
interferon alpha
intestinal biopsy
intracranial hemorrhage
intracranial pressure, increased
intrauterine
intrauterine infection
intrauterine infection, viral
intrauterine infection, viral of CNS
intubation
irritability
irritable baby
islet cell tumor
jaundice
Jewish
joint hypermobility
karyotyping
ketogenic diet
kyphoscoliosis, neurologic causes of
lactic acidemia
leg weakness, bilateral
Leigh's disease
lethargy
leukodystrophy
leukoencephalopathy
leukotrienes
lid closure, weakness of
lissencephaly
listeria monocytogenes
liver disease
liver function enzymes
lumbar puncture
lysosomal storage disease
macrocephaly
malabsorption
malformation, CNS, congenital
malformation, vascular
malignant hyperpyrexia
McArdle's disease
meningitis, carcinomatous
meningitis, CSF cell count-normal
mental retardation
merosin
metabolic acidosis
metabolic disorder, primary
metabolic disorder, primary-screening tests
methylene tetrahydrofolate reductase
methylenetetrahydrofolate reductase deficiency
methylmalonic acidemia
microcephaly
micrognathia
micropthalmia
middle cerebellar peduncle
middle cerebellar peduncle, lesion
middle cerebellar peduncle, lesion, bilateral
migraine, seizures in
misdiagnosis
mitochondrial disease
mitral valve prolapse
molecular genetics
mortality
motor neuron disease
movement disorder
movement disorder, hyperkinetic
MRI
MRI, abnormal
MRI, diffusion weighted
MRI, fetal
MRI, high signal foci on
MRI, muscle
MRI, spinal cord
MRI, spine
mucopolysaccharidoses
mucopolysacchariduria
muscle atrophy, progressive
muscle atrophy, static
muscle biopsy
muscle diseases, characteristics of
muscle phosphorylase deficiency
muscle weakness
muscle weakness, proximal
muscle weakness, sudden onset of
muscle-eye-brain disease
muscular dystrophy
muscular dystrophy, central nervous system abnormality
muscular dystrophy, congenital
muscular dystrophy, congenital, Fukuyama type
muscular dystrophy, LAMA2
myasthenia gravis, neonatal
myelomalacia
myoclonic jerks
myoclonus
myopathy
myopathy, centronuclear
myopia
myositis
myotonia congenita
myotonia dystrophica
nasal bridge, wide
nausea and vomiting
neck weakness
neck, webbed
nemaline rod myopathy
neonatal infection, viral
neonatal intensive care unit
neonatal screening, genetic neurologic disorders
nerve conduction studies
nerve conduction studies, motor
neuroaxonal dystrophy
neuroaxonal dystrophy, infantile
neurologic disease, diagnoses of
neurologic evaluation
neurologic signs
neuromuscular blockade
neuromuscular disease, electrodiagnosis of
neuromuscular junction, abnormality of
neuronal ceroid-lipofuscinosis
neuronal migration disorder
neuropathology
neuropathology, brain
neuropathy
neurophysiology
neurotoxin
newborn, evaluation of
Noonan Syndrome
nusinersen
nystagmus
nystagmus, monocular
obesity
obstetric neurologic injuries
opened mouth
ophthalmoplegia
ophthalmoplegia, neonatal
ophthalmoplegia, total
optic atrophy
optic atrophy, infants
optic nerve, hypoplasia of
osteopetrosis
pachygyria
paraparesis, familial spastic
paraparesis, spastic
Parkinson disease, dystonia with
Parkinsonism syndrome
paroxysmal hemiplegia
paroxysmal neurologic deficits
pathology
patient information and support
pectus excavatum
pediatric neurology
periventricular leukomalacia
pertussis immunization
petechiae
phenylketonuria, variant form of
PICU
placenta
placenta, infection of
placenta, thrombosis of
pleocytosis of cerebrospinal fluid
pneumoencephalogram(PEG)
poison, neurologic problems with
poliomyelitis
poliomyelitis vaccine
POLR3B
polyhydramnios
polymerase chain reaction
polymicrogyria
polymyositis
polymyositis, infantile
pons, atrophy
pons, lesion of
postoperative neurologic complications
postpartum
Prader-Labhart-Willi syndrome
precipitating factors
precocious puberty
pregnancy, neurologic complications in
premature infant
prenatal
prenatal diagnosis by amniocentesis
prevention of neurologic disorders
prognosis
progressive neurologic disorder
psychiatric problems in neurologic disorders
psychomotor retardation
psychosis
psychosis, childhood
ptosis
ptosis, bilateral
pulmonary stenosis
pyramidal tract dysfunction
pyruvate dehydrogenase deficiency
pyruvate metabolism, abnormality of
quadriparesis
quadriparesis, acute
quadriplegia
rapid onset dystonia parkinsonism
rapidly progressing neurologic illness
rash
recurrent
reflex, stretch
reflex, tonic stretch
renal tubular acidosis
repetitive nerve stimulation
respirator
respiratory arrest
respiratory depression
respiratory distress syndrome, neurologic status with
respiratory failure
respiratory tract infection
Rett's syndrome
review article
RFLPs
riboflavin transporter deficiency
rigid spine syndrome
rubella vaccine
scoliosis
scoliosis, neurologic association with
screaming
screening
segmental demyelination
seizure
seizure, children
seizure, focal
seizure, injury following
seizure, neonatal
self-mutilation
semialdehyde dehydrogenase deficiency
sensorineural hearing loss
serum alanine aminotransferase
short stature
shunt procedure, ventricular
skin, biopsy
skin, lesions in neurologic disorders
skull x-ray, abnormal
small for dates infant, problems in
SMN1 gene
spastic diplegia
spasticity
speech disorder, childhood
speech, delayed development of
spinal cord, enlargement
spinal cord, injury of
spinal cord, injury, New Born
spinal cord, intramedullary cyst of
spinal cord, transection
spinal muscular atrophy
spinal muscular atrophy, classification
splenomegaly
spongy degeneration of brain
standing difficulty
startle reaction
status epilepticus
stereotyped behavior
stereotypy
stillbirth
strabismus
subacute sclerosing panencephalitis(S.S.P.E.)Dawson's disease
subdural effusion
subdural hematoma, neonates and infants
subgaleal hematoma
suck, poor
superior sagittal sinus thrombosis
symmetric brain lesions
systemic lupus erythematosus
systemic lupus erythematosus, neonatal
systemic lupus erythematosus, neurologic complications with
tachycardia
Tay-Sachs disease
teeth, abnormal
teeth, number of in infants
temper tantrums
temporalis muscle wasting
term infant
tetrahydrobiopterin
thiamine deficiency
thrombocytopenia
titinopathy
titubation
toe walking
tone, muscle
tongue, fasciculations of
tongue, protrusion of
tongue, weakness
tonic spasms
toxins, nervous system
toxoplasmosis, CNS
tracheostomy
transilumination of skull
treatment of neurologic disorder
tremor
tremor, intention
tremulousness
trinucleotide repeats
type 1 muscle fiber
ultrasonography
ultrasonography, head
ultrasonography, head, fetus-neonate
urine test for metabolic disorders
vaccination, neurologic complications with
vaccine
vacuum delivery
valvulopathy
vasculopathy
vegetarianism
vein of Galen
vision, failure of in childhood
visual evoked response
visual impairment
visual loss
visual tracking
vitamin deficiency
vomiting, recurrent
walking, difficulty with
weakness
weakness, acute
weakness, congenital
weakness, generalized
weakness, infant
weakness, progressive
Werdnig-Hoffman disease
white matter disease
wide based gait
workup
wrist drop
Showing articles 0 to 50 of 1556 Next >>

Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025

A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025

Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024

Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024

A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022

The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022

A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021

Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021

Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020

Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018

FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018

Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018

A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016

Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 973, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014

Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014

Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014

Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013

Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010

Unexplained Seizures in an Infant
Lancet 373:94, Astuto,M.,et al, 2009

Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009

The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006

Human Botulism Immune Globulin for the Treatment of Infant Botulism
NEJM 354:462-471, Arnon,S.S.,et al, 2006

A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005

Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003

Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000

Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999

Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
Lancet 352:1514-1517,1487, Mayatepek,E.&Flock.B., 1998

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Muscle-Eye-Brain Disease:A Neuropathological Study
Ann Neurol 41:173-180, Haltia,M.,et al, 1997

Clinicopath Conf
Placental Vascular Thrombosis Due to Listeria Infection, Cerebral Embolism and Infarction, Case 15-1, 97EJM 336:1439-1446,1997., 1997

An Infant with Encephalitis
Lancet 350:1594, Yeung,W.L.,et al, 1997

Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
Ann Neurol 40:782-791, Pegoraro,E.,et al, 1996

Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,et al, 1996

Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
Arch Pediatr Adolesc Med 149:764-768, Miller,G.,et al, 1995

Congenital Myopathies
Muscle & Nerve 17:131-144994., Bodensteiner,J.B., 1994

Early Severe Infantile Botulism
J Pediatr 122:909-911, Hurst,D.L.&Marsh,W.W., 1993

Adverse Events Following Pertussis and Rubella Vaccines, Summary of a Report of the Institute of Medicine
JAMA 267:392-396, Howson,C.P.&Fineberg,H.V., 1992

Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
Ann Neurol 31:64-68, Perlman,J.M.&Argyle,C., 1992



Showing articles 0 to 50 of 1556 Next >>