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116 Cards in this Set
- Front
- Back
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Neonatal Adrenoleucodystrophy mode of inheritance
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X-linked progressive ataxia
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Adrenoleucodystrophy enzyme
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Lignoceroyl CoA
Long chain fatty acids in plasma |
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Maple syrup disease enzyme
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Branched-chain alpha-ketoacid dehydrogenase
(leucine, isoleucine and valine in plasma and urine) |
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Maple syrup disease symptoms
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Vomiting, poor feeding during the first week + hypotonia, convulsions
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Maple syrup disease diagnosis
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Add 2,4 dinitrophenylhydrazine to urine→ formation of yellow precipitate
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Isovaleric acidemia inheritance
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Autosomal recessive
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Isovaleric acidemia symptom
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Sweaty feet odor
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Isovaleric acidemia enzyme
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Isovaleryl CoA dehydrogenase
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Glycine encephalopathy inheritance
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Autosomal recessive
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Glycine encephalopathy diagnosis
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Irritable with hiccupping from 48 hours to several weeks
High glycine in CSF |
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DiGeorge syndrome inheritance
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22q11
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DiGeorge syndrome embriology
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3rd and 4th pouch
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DiGeorge syndrome symptoms
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Congenital hypoplasia of thymus, parathyroid glands, auricule, external auditory canal, cardiac abnormalities, cleft palate, short stature
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Lennox-Gastaut syndrome diagnosis
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Seizure, slow spike wave complexes on EEG and mental retardation
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Aicardi syndrome symptoms
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nfantile spasms, congenital malformations, agenesis of corpus callosum, retinal malformations
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infantile spasms
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ACTH or cortisol may be effective in management
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Lafora disease inheritance
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Autosomal recessive
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Lafora disease diagnosis
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Lafora bodies: polyglucosans in liver, muscles, peripheral nerves
EEG- nonspecific generalized discharges |
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Lafora disease symptoms
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Mental retardation appears first, ataxia, spasticity and involuntary movements late
Seizures are refractory to treatment |
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Landau-Klefnner symptoms
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Auditory agnosia
Poor language |
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Familial hemiplegic migraine
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Autosomal dominant
First hemiplegia, than contralateral headache |
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Tay-Sachs
GM2 gangliosidosis |
Hexoaminidase A deficiency
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GM1 gangliosidosis
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Beta galactosidase deficiency
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Niemann Pick disease
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Sphingomyelinase deficiency
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Metachromatic leucodystrophy
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Arylsulfatase deficiency
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Krabbe disease
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Galactosylceramidase deficiency
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Gausher disease
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Glucocerebrosidase deficit
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Menkes syndrome
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Deficit in intestinal transport of copper
X chromosome |
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Chediak-Higashi syndrome
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Lack of regulation of fusion of primary lymphocytes
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Galactosemia enzyme
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Galactose-1-phosphatase uridyl transferase deficiency
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Galactosemia symptoms
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Vomiting, hepatomegaly, cataract and presence of reducing substances in the urine
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Globoid leucodystrophy
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Galactocerebrosidase beta-galactosidase
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MELAS symptoms
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Myopathy, encephalopathy, lactic acidosis, stroke
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MELAS enzyme
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Mitochondrial
Respiratory chains enzyme deficit |
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Duchenne dystrophy
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dystrophine
X chromosome |
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Hartnup disease
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Autosomal recessive
Ataxia and photosensitivity |
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Fahr disease
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Encephalopathy and calcification of basal ganglia
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Hallervorden-Spatz
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Progressive dystonic rigidity and choreoathetotic movements
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Neuroacanthosis
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Chorea, tics, dystonia, parkinsonism, areflexia
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Harp syndrome
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Night blindness, mental retardation, dystonic dysarthria
Eye-of-tiger of the pallidum |
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Sturge- Weber
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Port wine nevus + brain angiomas
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Alexander’s disease
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Glial fibrillary acidic protein
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Ataxia-teleangiectasia
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Ocular motility disturbance → supranuclear ophthalmoplegia
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Neonatal seizures
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May arise from brain stem
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Benign rolandic seizure
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3-12 year old, resolves spontaneously (often); no loss of consciousness
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Hypoxic-ischemic seizure
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First 12 hours seizures
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Trauma and intrauterine infection
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First 24 hours seizures
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Kernicterus
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From the 3rd day seizures
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Pyridoxine deficiency
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Immediately after birth seizures
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Urea cycle disturbances
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After the first week seizures
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Neurofibrillary tangles
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neurofibrillary formation in the cell bodies
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Neurophil threads
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filamentous accumulation of dendrites
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Dystrophic neurites
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filament containing neuronal processes in the distal axons
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Senile plaques
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filament containing neuronal processes around extracellular Aβ amyloid deposition – becomes non-soluble
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Alzheimer’s disease
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most frequent cause of posterior cortical atrophy
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Anterior inferior cerebellar artery occlusion syndrome
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Hearing loss; facial involvement
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Posterior inferior cerebellar artery occlusion syndrome
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Dysarthria
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Superior cerebellar artery occlusion syndrome
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Vertigo; intention tremor, hearing loss
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Medial medulla
Dejerine syndrome |
Anterior spinal artery occlusion
Hypoglossal nerve; Corticospinal tract Medial lemniscus |
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Lateral medulla
Wallenberg syndrome |
Descending spinal tract and nucleus of trigeminal nerve
Glossopharyngeal and vagus Descending sympathetic tract Inferior cerebellar peduncle Spinothalamic tract Vestibular nucleus |
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Wallenberg
syndrome artery |
Posterior inferior cerebellar artery or vertebral
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Ventral pontine
(Basal) Millard- Gubler syndrome |
Basilar artery
Abducens nerve Facial nerve Corticospinal tract |
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Lower dorsal pontine
(Tegmental) Foville |
Branches of Basilar artery
Facial nerve Paramedian pontine reticular formation And Abducens nerve |
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Upper dorsal pontine
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Branches of Basilar artery
Superior and middle cerebellar peduncles Medial lemniscus and Spinothalamic tract Possible Corticospinal tract |
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Ventral midbrain
Weber |
Median and Paramedian branches of basilar
Fascicle of Oculomotor nerve Corticospinal tract |
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Dorsal midbrain
Moritz Benedikt syndrome |
Oculomotor nerve
Red nucleus Corticospinal tract Spinothalamic tract Medial lemniscus |
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Dorsolateral midbrain
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Circumfer. artery
Spinothalamic tract Medial lemniscus Superior cerebellar peduncle |
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Hemichorea-hemiballismus
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Subthalamic nucleus
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Pure motor deficit
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Posterior limb of internal capsule
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Dysarthria clumsy hand syndrome
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Basis point
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Ataxic hemiparesis
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Corona radiata
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Inferior parietal lobe lesion
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Sensory inattention
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Septal region lesion
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Rage reaction
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Orbitofrontal (right) lesion
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Depression
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Right parietotemporal lesion
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Sensory aprosodia
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Bilateral anterior temporal lesion
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Blunt affect
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Bilateral anterior cingulate lesion
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Indifference to pain
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Left dorsofrontal lesion
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Hostility
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Left temporal lobe lesion
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Denial
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Right temporal lesion
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Paranoid behavior
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Medial frontal lobe lesion
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Mutism, gait disturbance and urinary incontinence
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Bilateral Parieto-occipital lesion
Balint syndrome |
Simultagnosia – can’t recognize whole
Gaze apraxia Optic ataxia Decreased visual attention affecting peripheral visual fields |
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Frontal alien hand syndrome lesion
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Dominant hand, reflex grasping, compulsive manipulation of tools, groping
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Calossal alien hand syndrome lesion
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Intermanual conflict
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Mesial occipital lesion
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Visual field defect, visual field agnosia and hallucination
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Lateral occipital lesion
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Alexia, agraphia, nystagmus
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Bilateral anterior tip of temporal lesion
Kluver-Bucy syndrome |
Visual agnosia, hyperorality, hypersexuality, hypomobility and increased attendance to every visual stimuli
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Lateroinferior nondominant temporal
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Amnesia with storage impairment of geometric pattern
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Parietal postcentral lesion
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Contralateral somatosensory disturbance
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Mesial parietal lesion
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Sensory aphasia
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Lateral parietal dominant lesion
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Alexia, agraphia, finger agnosia and acalculia
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Mesiofrontal lesion
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Akinesia with perseveration and alien hand
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Lateral frontal premotor lesion
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Pure agraphia
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Orbitofrontal lesion
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Blunt affect with impaired association of social nuance
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Calossal frontal lesion
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Lack of kinesthetic transfer
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Dorsolateral prefrontal lesion
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Deficits in verbal and non-verbal fluency, decreased problem solving, reduced learning
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Medial frontal/anterior cingulate lesion
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Apathy and decreased initiative
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Posterior parietal lesion
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Associative visual agnosia
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Occipital lesion
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Apperceptive visual agnosia
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Inferotemporal lesion
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Source amnesia
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Inferotemporal
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Prosopagnosia
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Association area of frontal
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Source amnesia
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Neocortex of the temporal lobe seizure
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“Deja vecu” illusion
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Occipital seizure
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Multicolored patterned hallucinations
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Midbrain seizure
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Pleasant dream-like visual hallucinations
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Migraine
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Black&white zigzag linear hallucinations
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Charles Bonnet syndrome
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Nocturnal bright-colored people with cartoon-like appearance
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Chromosome 21 Alzheimer
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Amyloid precursor protein
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Chromosome 19 Alzheimer
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ApoE glycoprotein
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Chromosome 14 Alzheimer
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Presenilin 1
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Chromosome 1 Alzheimer
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Presenilin 2
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Facial nerve
Pons lesion |
Fascicular nerve damage
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Facial nerve
Ramsey-Hunt |
Geniculate ganglion
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Facial nerve
Lesion in meatal canal |
Ipsilateral with deafness and loss of taste 2/3
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Facial nerve
Stylomastoid |
Ipsilateral with normal hearing and taste
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Facial nerve
Between departure to the stapedius and the departure to chorda tympani |
Ipsilateral with normal hearing and loss of taste 2/3
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