Neurology Flashcards
Genetics of Spinal Muscular Atrophy, type 1
Autosomal recessive, chromosome 5
Pathogenesis of SMA type 1
Degeneration of anterior horn cell
Genetics and pathophysiology of Congenital myasthenia
Autosomal recessive, caused by deficiency of endplate acetylcholine receptors
Genetics of congenital myotonic dystrophy
Autosomal dominant, chromosome 19, caused by expanded CTG repeat with severity determined by number of repeats; inherited disorder of muscle caused be altered protein which leads to dysfunctional sodium and potassium channels
What is Riley-Day syndrome
Familial dysautonomia; autosomal recessive on 9q31-33; disorder or peripheral nervous system; reduced number of small unmyelinated nerves that carry pin, temp, taste, and mediate autonomic fxns
Syndrome with poor sick and swallow, emesis, abdominal dissension, loose bowel movement, pale, blotchy skin, hypotonia, absent corneal reflexes, hypersensitive pupillary enervation, decreased tongue papillae, temp and BP instability
Familial dysautonomia
Mechanism of action of phenobarbital
Increase time that chloride channels are open by acting on GABA-A receptor subunits which depresses the central nervous system
Mechanism of action of phenytoin
Blocks voltage gated sodium channels, thus blocking repetitive firing of action potentials
MoA of levetiracetam
Binding to the synaptic vesicle protein SV2A reducing the rate of vesicle release
MoA of midazolam
Increases GABA activity
MoA of lidocaine
Antiarrythmic medication/class Ib type; blocks sodium channels; mechanism and anticonvulsant not known
MoA of topiramate
Blocks sodium channels, enhances GABA-activated chloride channels and inhibits excitatory neurotransmission
MoA of bumetanide
Inhibits Na-K-Cl cotransporter; effective for temporal lobe epilepsy with altered chloride homeostasis
Genetics of tuberous sclerosis
Autosomal dominant; chromosomes 9, 16
Genetics of Neurofibromatosis type 1
Autosomal dominant, chromosome 17
Genetics of Neurofbromatosis, type 2
Chromosome 22
Clinical features of mcCune Albright syndrome
Irregular brown pigmentations, fibrous dysplasia, bones, precocious puberty, hyperthyroidism, hyperparathyroidism, pituitary adenoma
Genetics of von Hippel Lindau disease
Autosomal dominant on the short arm of chromosome three, results from over expression of transcription factor hypoxia-inducible factor
Most common type of cerebral palsy seen with extreme prematurity
Spastic diplegia
Macrocephaly, transillumination of skull, and adducted thumbs
X-linked hydrocephalus caused by stenosis of the aqueduct of Sylvia’s (HSAS); mutation in L1CAM
Diseases associated with congenital glaucoma
Sturge Weber syndrome, neurofibromatosis, retinoblastoma, homocystinuria, trisomy, 21, congenital rubella, stickler syndrome
What gestational age does the EEG become continuous?
31 weeks
At what gestational age do you start to see EEG changes with external stimuli
34 weeks
What is the most common manifestation of neurofibromatosis in infancy?
Café au lait macules
When is optic nerve myelination complete
24 months of age
Persistence of what reflex is characteristic of athetoid cerebral palsy
Palmer grasp reflex
What is more common cystic PVL or diffuse PVL
Diffuse PVL
Head shape and syndrome associated with premature closure of bilateral coronal sutures
Brachycephaly, which can be observed in carpenter syndrome
Which suture closes to give trigonocephaly
Metopic suture
MMC at T12-L2- reflexes seen and ambulation potential
No reflexes, full braces needed- long-term ambulation unlikely
MMC at L3-L4; reflexes seen and ambulation potential
Knee jerk present, may ambulate with braces and crutches
MMC at L5- S1, reflexes seen and ambulation potential
Ankle jerk present, ambulate with or without short braces
MMC at S2-S4, reflexes seen and ambulation potential
Anal wink reflex present, ambulate without braces
Calculation of cerebral perfusion pressure
CPP= MAP-ICP
MAP= (2/3)DBP + (1/3)SBP
Developmental finding seen more in IUGR infants
Decreased full scale and verbal IQ
Diagnosis of septooptic dysplasia
Two of the following 3: optic nerve hypoplasia, pituitary gland dysfunction, and absence of the septum pellucidum
Genetics of achondroplasia
Autosomal dominant but 80 to 90% result from new mutations, increased risk with increased paternal age, secondary to a mutation in the trans membrane domain of the fibroblast growth factor receptor 3 gene
Trident hands, depressed nasal bridge, frontal bossing, megalocephy, caudal narrowing of spinal cord, normal intelligence, short stature
Achondroplasia
Chromosome in Beckwith-Wiedemann syndrome
11p15.5
Tumor surveillance screening in BWS
abdominal ultrasound every three months until age 7, monitoring alpha-fetoprotein
Genetics and features of Holt-Oram syndrome
Autosomal dominant with variable expression, 12q2 locus
Cardiac in greater than 50%: ASD, VSD, coarctation; upper limb defects, absent, hypoplastic, or abnormally shaped thumbs, narrow shoulders
Genetics of Marfan syndrome
Autosomal dominant with variable expression, connective tissue disorder that is secondary to abnormal fibrillin gene located at 15 Q 21.1
Genetics of Noonan syndrome
Sporadic or autosomal dominant, 12 Q 22
Genetics of osteogenesis imperfecta
Majority or autosomal dominant, defect in type one collagen
Genetics of Stickler syndrome
Autosomal dominant with variable expression, secondary to mutation of type 2 collagen on 12 Q 13
Lower eyelid coloboma, downslanting palpebral fissures, mandibular hypoplasia, dysmorphic ears, malar hypoplasia
Treacher -Collins syndrome (autosomal dominant but 60% secondary to new mutations)
Neuroblastoma has been associated with what medical conditions
Turner syndrome, Hirshprung disease, and central hypo ventilation syndrome
Cranial nerve IV name and what happens if it’s impaired
Trochlear nerve
Impaired downward gaze
Name of cranial nerve VI and what happens if it’s impaired
Abducens nerve
Absence of lateral eye movement
Most common presenting symptom after in utero mca ischemic stroke
Seizures
A tethered cord should be considered, when
When the conus medullary is located below the lumbar 1-2 disc space
The optic vesicle develops from
Diencephalon
