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16 Cards in this Set
- Front
- Back
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Lissencephaly
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-cerebral cortical neurons fail to migrate normally
SMOOTH BRAIN w/o SUCLI and GYRI Type I= Miller-Dieker (microcephaly, bitemporal hollowing, upturned nose, 4 layers of cerebral cortex) Type II= Walker-Warburg (cobble-stone cerebral cortex, cerebellar dysplasia, retinal dysplasia, cataracts, death >3mo.) |
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Miller-Dieker Syndrome
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Type I Lissencephaly
-failure of cortical neurons to migrate -smooth brain w/ 4 layers of cerebral cortex -micrognathia, bitemporal hollowing, upturned nose |
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Walker-Warburg Syndrome
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Type II Lissencephaly
-failure of cortical neurons to migrate -cobblestone cerebral cortex -disorganized cortical layers -death > 3mo. -retinal and cerebellar dysplasia -cataracts, hypotonia |
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Periventricular (Banded) Heterotopia
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-neuronal precursors fail to migrate our of ventricular zone
-abnormally thick grey matter; may be external to white matter -mature neurons inside intermediate zones -enlarged ventricles |
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Tuberous Sclerosis Complex (TSC)
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-TUBERS/ Hamartomas: disorganized layers of cerebral cortex (abnormal proliferation and migration)
-SEGAs= subependymal giant cell astrocytomas/ benign brain tumors; may obstruct CSF -80-90% epilepsy comorbidity -also: autism, mental retardation |
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SEGAs
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Subependymal Giant Astrocytomas
-common in Tuberous Sclerosis Complex -benign brain tumors may obstruct CSF |
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Hamartomas
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-disorganized and undifferentiated clusters of neurons
-common in Tuberous Sclerosis Complex |
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Phakomatoses
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neurocutaneous syndromes
-involve neuro systems and eyes/ skin |
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Neurofibromatosis Type I
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-autosomal dominant
-benign (NEUROFIBROMA) and malignant (MPSNT) peripheral nerve tumors -increases pheochromocytomas -cafe au lait spots, axillary freckling -Lisch nodules in iris -optic pathway gliomas -mild cognitive impairment (autism, ADHD) |
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Down Syndrome
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Trisomy 21
-early appearance of senile plaques and tangles -disruption of neural cell migration in cerebellum -increases neuronal apoptosis -reduced/ abnormal growth of frontal and temporal lobes |
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Rett Syndrome (RS)
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-disorder of MeCP2 gene--> represses transcription of other genes
-appears after 6-10 mo. -loss of language skills and motor coordination -arrest of brain development -abnormal synapses and dendrites |
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Fragile X Syndrome
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-expansion of CGG trinucleotides
-long face with prominent ears; macrocephaly -delayed milestones -def. abstract reasoning, seq. processing, math -HAND FLAPPING, BITING, GAZE AVERSION |
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Williams Syndrome
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-large deletion on chromosome 7
-hypersensitivity to sound -motor coordination difficulties -visual abnormalities SOCIALLY FEARLESS / MUSICAL PROFICIENCY |
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Austism Spectrum
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- absence or delay of language
- abnormal social interactions; no reciprocal play - restrictive or repetitive behaviours -larger brain (3-4yrs) -abnormal cerebellum, amygdala, hippocampus -abnormal cortical layers |
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Asperger Syndrome
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Austism with normal language development
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Childhood-Onset Schizophrenia
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--spatial disorganization of neurons
-decreased NMDA rec. - rapid, progressive loss of grey matter -loss in parietal regions (language) |
