Peds Neuro
Gene associated with Rett syndrome.
What is MECP2?
This is the best maneuver to trigger an absence seizure in an undermedicated child.
What is hyperventilation?
This is the typical CSF profile of a patient with Alzheimer's disease (3 features)
What is an elevated tau, elevated p-tau, and decreased amyloid?
Classic triad is encephalopathy, sensorineural hearing loss, and branch retinal artery occlusion
What is Susac syndrome?
Patient with narcolepsy will have low _____ in their CSF.
Hypocretin
Produced by lateral hypothalamus
Most common chromosomal mutation of lobar holoprosencephaly.
What is trisomy 13?
This medication is indicated for LSG and Dravet and increases extracellular serotonin levels by interfering with its vesicular storage and by inhibiting uptake via its transporter.
What is fenfluramine?
The dreaded side effects of anti-amyloid therapy recently FDA approved for alzheimer's disease
What is ARIA-H and ARIA-E?
"Amyloid related imaging abnormalities" AKA swelling and bleeding. Higher risk in ApoE4 homozygotes.
This MS therapy is highly teratogenic and men must come off of it before attempting to conceive with their partner. The mechanism is inhibition of dihydroorotate dehydrogenase
What is teriflunomide?
The initial evaluation of Restless Leg Syndrome should include checking this lab.
What is ferritin?
< 75 ug//L needs oral iron supplementation
Enzyme deficient in Pompe's disease
What is alpha glucosidase?
A drug called alglucosidase alfa, has received FDA approval for the treatment of infants and children with Pompe disease.
This is the classic EEG finding of Angelman syndrome.
What is notched delta?
This drug is an inverse agonist and antagonist of serotonin 5-HT receptors FDA approved for treatment of Parkinson disease related psychosis
What is pimavanserin? (Nuplazid)
This variant of stiff person syndrome is associated with antibodies to glycine receptors.
What is PERM? (Progressive Encephalomyelitis with Rigidity and Myoclonus)
This is the first line treatment for insomnia associated with alpha-synucleinopathies such as dementia with lewy bodies.
What is melatonin?
Enzyme deficient in metachromatic leukodystrophy
What is Arylsulfatase A?
This nonmedical treatment is offered to medically refractory LGS patients with hopes of stopping atonic seizures.
What is corpus callosotomy?
an intrinsic connectivity network seen in healthy people on functional MRI involving the posterior regions of the brain, including the hippocampus, cingulate, and posterior temporal and parietal regions. Its function includes participation in episodic memory, visual imagery, and visual creativity.
What is the default mode network?
Dysfunctional in Alzheimer's patients, resulting in significant impairment in memory and visuospatial tasks including constructions and visual memory.
antibody-mediated degenerative condition that can resemble several disorders, including progressive supranuclear palsy, multiple-system atrophy, and motor neuron disease. Parasomnias are a key feature.
What is IGLON-5?
This aspect of polysomnography can help differentiate between obstructive and central sleep apnea
What is plethysmography? measures the cross-sectional area of the rib cage and abdomen with breathing motion.
OSA - out of phase movements of ribs and abdomen
in central - no out of phase movements. Due to decreased ventilatory drive
This peroxisomal disorder presents with craniofacial dysmorphisms, ocular abnormalities, hearing loss, hypotonia and developmental delay, and is associated with elevated very long chain fatty acids and the PEX gene.
What is Zellweger's? (Cerebrohepatorenal Syndrome)
The mutation associated with perventricular nodular heterotopia.
What is the FLNA gene?
This is an autosomal dominant prion related disorder that presents with progressive cerebellar ataxia and later onset cognitive decline.
What is Gerstmann Strausler Scheinker disease?
The most common presentation of this encephalitis consists of a triad of gastrointestinal symptoms/weight loss, limbic symptoms (cognitive or mental), and CNS hyperexcitability. GI symptoms are due to the high presence of this on the myenteric plexus.
What is DPPX?
Recurrent 1-2 week bouts of hypersomnia, hyperphagia, and irritability in a teenage boy is termed this.
What is Kleine Levin?
The disorder is associated with hypersexual behavior, either anorexia or hyperphagia, feeling of depersonalization, and cognitive issues. Hypocretin and orexin levels are reduced during episodes. Treatment consists of either lamotrigine or lithium.