board prep Flashcards
DSM V criteria for persistent depressive disorder?
Persistent depressive disorder is a new term in the DSM-5 that consolidates chronic major depressive disorder and dysthymic disorder. Depressive symptoms must be present for at least 2 years to meet the diagnostic criteria (1 year for children and adolescents), with no longer than 2 months of symptom freedom at a time. Symptoms include poor appetite or overeating, insomnia or hypersomnia, low energy or fatigue, low self-esteem, poor concentration or difficulty making decisions, and feelings of hopelessness.
Presentation of SMA type 1? (5) Associated gene to test for?
ormal neonatal course followed by the development of fasciculations, hypotonia, respiratory failure, and areflexia. SMN1 gene
Difference between brief psychotic disorder, schizophreniform disorder and schizophrenia?
The duration of symptoms dictates the diagnosis: symptoms lasting <1 month are consistent with a brief psychotic disorder; symptoms lasting 1 to 6 months are considered a schizophreniform disorder; and symptoms lasting >6 months are considered schizophrenia.
What is schizoaffective disorder?
combination of schizophrenia and a mood disorder; the psychosis must be present for at least 2 weeks when the mood disorder is NOT present. And mood disorder (bipolar or depression) should be present more than 50% of the time.
What is Leber Hereditary Optic Neuropathy?
condition due to point mutation on mitochondrial DNA; patient presents with progressive vision loss due to recurrent optic neuropathy; fundoscopic exam shows bilateral optic disc hyperemia and circumpapillary telangiectasia
Triad seen in Balint’s syndrome? Which part of the brain is damaged?
-ocular apraxia (cannot initiate saccades) , ocular ataxia (trouble with fine movements under visual guidance), and simultagnosia (difficulty interpreting complex visual stimuli); -damage to bilateral parietal-occipital association areas
How to distinguish between Alzheimer’s disease and Dementia with Lew Body on FDG-PET scan?
decreased metabolic activity in the occipital lobe is seen in DLB, and not in AD
Describe Corticobasal ganglionic degeneration?
parkinonism-plus syndrome with focal limb rigidity, dystonia, cortical myoclonus, cortical sensory loss, astereognosis, agraphestthesia, 2 point discrimination loss in affected limb, frontal cognitive impairment, apraxia, parkinsonism, and alien limb syndrome. May also have rest tremor, bradykinesia, and rigidity.
What is exploding head syndrome?
sense of a sudden noise or explosion occurring while falling asleep or when waking after sleep onset. Not associated with pain. +/- myoclonic jerk
Name the brainstem syndrome: ipsilateral 3rd nerve palsy and contralateral ataxia and tremor
Claude’s syndrome
Name the brainstem syndrome: contralateral hemiparesis and ipsilateral 3rd nerve palsy
Weber syndrome
Name the brainstem syndrome: third nerve palsy with contralateral choreiform movements
Benedickt’s syndrome
four signs of late onset hypoventilation syndrome with hypothalamic dysfunction?
hypothalamic endocrine abnormality, behavioral distrubance, tumor of neural origin, obesity
Identify the nerve/root involved? numbness in the quadriceps area
femoral nerve
Identify the nerve/root involved? weakness of quadriceps?
L3 and/or L4 neuropathy
Identify the nerve/root involved? weakness of hip flexion?
femora; nerve and the L1-L3 nerve roots which innervate the iliopsoas muscle
Identify the nerve/root involved?absent achilles reflex
S1
Identify the nerve/root involved? Foot drop and trendelenburg sign
L5 innervates the foot dorsiflexors and hip abductors
What is septo-optic dysplasia?
absence or dysgenesis of the septum pellucidum with hypoplasia of the optic nerve
Most evidenced base therapy for conduct disorder?
multisystemic therapy is an intensive family-focused and community-based txt program
Name the dx: 5 yo boy presents with vision and hearing impairment, aphasia, hyperactivity, paralysis, seizures, muscle weakness, adrenal failure, and coma.
adrenoleukodystrophy -X-linked disorder of peroxisomal fatty acid beta-oxidation, which ersults in accumulation of very long-chain fatty acids in tissues throughout the body -tissues most severely affected by the VLCFA are myelin in the CNS and adrenal cortex
What Piaget’s 4 major stages of cognitive development?
I. Sensorimotor stage (age 0 to 24 months): Knowledge is acquired through sensory experience and manipulating objects. II. Preoperational stage (2 to 7 years): Knowledge is acquired through pretend play. Children begin to think symbolically and use words and pictures to represent objects. During this stage, children have difficulty seeing things from others’ perspective. They use concrete thinking. III. Concrete operational stage (7 to 11 years): Thinking becomes more logical but is still very concrete. Thinking is also more organized. Children start to use reasoning from specific situations to a general principle. Children began to understand others’ perspectives. IV. Formal operational stage (11 years to adulthood): The ability to think logically increases, and abstract thinking emerges. Children gain the ability to use deductive reasoning and are able to derive multiple solutions to problems.
Human leukocyte antigen (HLA) B51 serotype is associated with
Behçet’s disease, which is characterized by herpetiform rash and iritis, and can cause chronic meningitis.
What is the intermediate nerve?
branch of CN 7. Taste sensations travel from the anterior 2/3 of the tongue via the chordae tympani and then to the intermediate nerve, and from the palate via the greater petrosal nerve.
What nerves supply efferent secretomotor signal to the parotid gland?
The otic ganglion contains fibers supplying efferent secretomotor signal to the parotid gland, via the lesser petrosal nerve, and ultimately from the glossopharyngeal nerve.
What nerve provides secretomotor signals to the lacrimal gland?
The greater (superficial) petrosal nerve provide secretomotor signals to the lacrimal gland, via the facial nerve.
Balint’s syndrome localizes to…
bilateral occipital parietal lobes
Triad of Balint’s syndrome?
optic apraxia (difficulty looking at a target when prompted) and simultagnosia (difficulty identifying objects when shown simultaneously)
What is Hyperekplexia
rare genetic disease that has been associated with a variety of gene mutations usually affecting the glycine receptor. The disease is characterized by a triad of generalized stiffness while awake, nocturnal myoclonus, and an exaggerated startle reflex. These features are often apparent at birth. Episodes of hypertonia or tonic spasms occur upon awakening or with auditory or tactile stimuli.
X-linked adrenoleukodystrophy
associated with mutations in the ABCD1 gene. The MRI shows hyperintense T2 changes in the white matter involving the parieto-occipital regions and the corpus callosum.
Which aspect of memory is typically spared in pseudo-dementia?
Pseudo-dementia, now known as dementia syndrome of depression, is likely to spare implicit memory.
Name the gene associated with: Frontotemporal dementia-amyotrophic lateral sclerosis (FTD/ALS) complex
C9orf72 gene
Name the gene associated with: prion disease
PRNP gene (PRioN Protein)
Name the gene associated with: Pantothenate kinase-associated neurodegeneration (PKAN)
PANK2 -is a neurodegenerative condition caused by excessive accumulation of iron in the basal ganglia, leading to dystonia, parkinsonism, early dementia, and death
Hypokalemic periodic paralysis is a disorder caused by mutation of what channel?
Hypokalemic periodic paralysis is a disorder of potassium transport, usually caused by defective calcium channels
Difference between chiari I and chiari II malformation?
Chiari I malformation is characterized by abnormally shaped cerebellar tonsils that are displaced below the level of the foramen magnum. It usually does not become symptomatic until adolescence at the earliest. Symptom onset is usually insidious and can include increased intracranial pressure, occipital headache, and neck pain. Chiari II: Chiari II malformation is characterized by downward displacement of the cerebellar vermis and tonsils, a brainstem malformation with beaked midbrain on neuroimaging, and a spinal myelomeningocele. Diagnosis should be suspected in a baby with clinical evidence of a spinal myelomeningocele.
Sleep spindles are a normal sleep transient visualized during stage 2 sleep and are an indication of healthy cerebral architecture in the maturing pediatric brain, becoming increasingly synchronous by what age?
1 to 2 years old
Classify Chiari type I based on tonsillar descent (mm)
What is Hallervorden Spatz Disease?
NBIA type 1; extrapyramidal dysfunction and dementia in children before 10 years old; has been linked to PANK2 gene on chr 20;
Difference between schizencephaly and porencephaly?
- Schizencephaly: cleft between the ventricles and subarachnoid space with associated gray matter heterotopias along the cleft wall (associated with in utero hypoxic insult)
- Porencephaly: cystic communication lined by giotic white matter between the lateral ventricle and the subarachnoid space
Name the structure that the arrow is pointing at?
Globus pallidus (in this case hemorrhagic secondary to carbon monoxide poisoning)
Describe the baroreceptor reflex?
Baroreceptors in the carotid sinus –> stimulated by increased blood pressure –> glossopharyngeal afferents –> the caudal portion of the nucleus solitarius –> dorsal motor n. of the vagus nerve –> parasympathetics to the heart and slow down HR
Describe the function and innervation of the genioglossus muscles?
Genioglossus muscles pull the tongue anterior and medial. They are innervated by contralateral hypoglossus nucleus. Thus, if tongue deviation is due to an upper motor neuron lesion affecting the genioglossus projections, tongue deviation would be contralateral. A LMN lesion would cause ipsilateral tongue deivation
The gag reflex is mediated by which nucleus?
Nucleus ambiguus
What three nerves exits the skull through the jugular foramen?
vagus nerve, glossopharyngeal nerve, spinal accesory nerve
Name the antibody…. neuroblastoma + opsoclonus
anti-Hu
ataxia syndrome, paraneoplastic cerebellar degeneration. Name the antibody?
anti-Yo (anti-purkinje cell)
opsoclonus-myoclonus + breast cancer or lung cancer or gynecological cancer. Name the antibody?
anti-Ri
testicular tumors + peripheral neuropathy, name the associated antibody?
anti-Ma2 antibody
What MS medication carries an increase risk of seizures?
Dalfampridine
How would a lesion at the geniculate ganglion of CN 7 present? How about a pesion just distal to the geniculate ganglion?
lesion of geniculate ganglion: affect all modalities of CN 7 since there are no branches prior to it (facial paralysis, hyperacuisis, loss of taste anterior 2/3, loss of lacrimation, loss of salivation)
lesion just distal to geniculate ganglion: spares lacrimation since the greater petrosal nerve branches before this point
greater than 70% of astrocytomas have mutations in what 2 genes
p53 and ATRX genes
molecular marker of oligodendroglioma?
chromosome 1p/19q co-deletion (this is a good prognostic factor)
pathophysiology of congenital myasthenia gravis?
mutation in nicotinic acetylcholine receptors
Duration of a cluster headache?
15 to 180 minutes
How does intermittent explosive disorder differs from antisocial perdsonality disorder/conduct disorder?
Intermittent explosive disorder = pt has aggressive olutbursts lasting 30 mins that are disproprtionate to stressor affecting day to day life.
There is a lack of personal gain unlike antisocial personality disorder or conduct disorder
What is Foster Kennedy syndrome?
p/w ipsilateral optic atrophy and contralateral papilledema. Possible etiology includes olfactory groove meningioma.
What is the cell of origin of a meningioma?
arachnoid cap cells
