CNS DI-Exam I Flashcards
What type of a disease is cerebral palsy
congenital
a group of congenital abnormalities that occur either in utero, during birthing, or during the first two years of life. These abnormalities are non-progressing in nature and can have multiple etiologies. Motor abnormalities are the most prominent presentation of this disease.
Cerebral Palsy
this disease is also called “brain paralysis” and “static encephalopathy”
Cerebral Palsy
a defining feature of this disease is that the case occurs prior to complete development of the cerebrum
Cerebral Palsy
Risk factors of this disease include preterm birth and maternal or fetal infections.
Cerebral Palsy
Pathophysiology of this depends on the time of onset. Typically, hypoxic-ischemic injury.
Cerebral Palsy
symptoms of this disease typically involve motor disorders, but may include sensory and cognitive defects as well. Clinical signs may be absent at birth and develop slowly as an infant. Milestone delays are the initial clinical symptoms. Major motor abnormalities include: spasticity, dyskinesis, rigidity. 50% of cases experience seizures
Cerebral Palsy
Diagnostic testing for Cerebral Palsy includes:
history and physical to rule out progressive disorders, US of fetus during pregnancy, MRI scan is most useful,
Treatment of Cerebral Palsy includes…
goal is to maximize function, so most treatment is symptomatic. Physical Therapy is very important. Medications include: Botulinum toxin, antispasmatics, anticonvulsants
Complications of Cerebral Palsy include…
hip dislocation due to muscular tone imbalance, difficulty eating and breathing, osteopenia, osteoporosis, chronic MSK pain
Chiari Malformation is what type of disease?
congenital
a dysraphism of the metencephalon.
Dandy-Walker Syndrome
What is a defect in the formation of the midline in an embryo?
Dysraphism
This disease features an enlarged posterior cranial fossa, loss of the cerebellar vermis with an enlarged midline fluid-filled, ependymal-lined cyst representing an expanded fourth ventricle
Dandy-Walker Syndrome
In this disease, on CT you will see a glossy, enlarged fourth ventricle due to the redimentary development of the cerebellum and lack of fusion between the cerebellar hemispheres.
Dandy-Walker Syndrome
A hallmark of this disease is a rudimentary cerebellum and an enlarged cistern in the posterior cranial fossa
Dandy-Walker Syndrome
This is due to a failure of closure or a reopening of the previously closed caudal portions of the neural tube
Spina Bifida
a midline defect in the vertebral posterior arch structures. There is no involvement of neural components
Spina Bifida Occulta
a midline defect of the vertebral posterior arch structures with herniation of the meninges but not the neural structures
Meningocele
a midline defect of the vertebral posterior arch structures with herniation of the meninges and neural structures
myelomeningocele
Prevention mechanisms of spina bifida include
folic acid supplementation during pregnancy
This form of spina bifida is generally asymptomatic and presents as minor changes in skin present over the diaphragm
spina bifida occulta
this form of spina bifida is marked by a fluid-filled, cyst-like sac which extends off the back over the region of the dysraphism
meningocele
this form of spina bifida is marked by numerous organ dysfunctions, cyst-like structures covered by a thin layer of epithelialized material
myelomeningocele
a rare neurocutaneous disorder (also called phakomatoses)
Sturge-Weber Syndrome
Encephalotrigeminal angiomatosis is another term for what disorder
Srurge-Weber Syndrome
Presentation of this disorder includes facial nevus about the eye extending in the opthalmic division of the trigeminal nerve. Glaucoma may also be present in the ipsilateral eye. Patient may also present with developmental delay and learning problems; seizures develop within the first year.
Srurge-Weber Syndrome
This is caused when the anterior spinal artery infarcts
Spinal Artery Infarction
The presentation of this includes acute onset, back pain, pain radiating into the legs, focal neurologic changes including: weakness below the level of the lesion, incontinence x 2, analgesia below the lesion level, spared vibratory and proprioception senses
Spinal Artery Infarction
Which artery runs midline along the spinal cord and is supplied by 5 or 6 medullary arteries that are derived from spinal arteries
Anterior Spinal Artery
This type of brain injury is almost always non-traumatic in origin, and results in blood entering and contaminating of the CSF
Subarachnoid hemorrhage
Patients with this report having “the worst headache of their life”; this is usually due to meningeal irritation
Subarachnoid Hemorrhage
Treatment for a subarachnoid hemorrhage may include…
surgical repair of aneurysm, drainage and shunt placement, clot removal and triple H therapy (hemodilution, hypertension, and hypervolemia)
This disease is caused by a dysraphism in which defects in the closure of the midline structures related to the metencephalon cause a range of neurological abnormalities involving the posterior cranial fossa
Chiari Malformation
The main abnormality in this disorder involves displacement of the tonsils of the cerebellum, along the medulla into the foramen magnum
Chiari Malformation
The two types of Chiari Malformations are…
Chiari type I and Chiari type II
Chiari type I can also be called
Chronic tonsilar herniation
This disease is characterized by low-lying cerebellar tonsils (NOT the vermis) extending through the foramen magnum. This can cause obstruction of the CSF. It is strongly associated with syringomyelia
Chiari Type I
This disease is characterized by bony and dural abnoralities, a small posterior cranial fossa, abnormal midline cerebellum shape with displacement of the cerebellar vermis (NOT the tonsils). The vermis extends down into the foramen magnum
Chiari Type II
Presentation of this disease is typically asymptomatic in the infant and child with signs and symptoms developing at puberty. The pt. will experience headache, neck pain, urinary frequency, progressive cerebellar ataxia and lower extremity spasticity. Anemic episodes may occur in infants. Older children can present with scoliosis
Chiari Type I
A 14-month-old male is brought to the pediatrician because he is not able to walk. His mother is very concerned because her friend’s daughter began walking around 12 months of age. He was born at 30 weeks gestation to his 28-year-old G1P1 mother. The pregnancy was complicated by eclampsia requiring emergency Cesarean delivery. The mother also reports her son has difficulty with swallowing. Physical exam is notable for hypertonic muscle tone, absence of selective motor control, and motor delay.
Cerebral Palsy
This form of Chiari is almost always associated with pediatric hydrocephalus and myelomeningocele
Chiari type II (Note: chiari type I may cause adult onset hydrocephalus but hydrocephalus is generally uncommon in this form of the disease)
This form of Chiari is strongly associated with syringomyelia, in which patients also have an idiopathic syrinx
Chiari type I
An infant boy presents with trouble swallowing, bilateral arm and leg weakness, and stridor. The infant was born to a 28-year-old woman who did not seek prenatal care. On physical exam, the infant barely moves his arms and legs and has stridor. A meningomyelocele is appreciated in the lumbosacral area. Magnetic resonance imaging of the head shows downward displacement of the cerebellar vermis and tonsils through the foramen magnum.
Chiari Type II malformation
An 1-year-old boy is brought to the emergency department by his parents due to increased irritability and an “enlarging head.” The parents deny any trauma but has noticed their infant appears weaker than his sister when she was his age. They did not receive adequate prenatal care due to the distance and cost to arrive to their closest obstetrician. On physical exam, the infant is inconsolable and has an increased head circumference for his age. Magnetic resonance imaging (MRI) of the head shows hypoplasia of the cerebellar vermis with cystic dilatation of the fourth ventricle leading to a non-communicating hydrocephalus.
Dandy-Walker Syndrome
an abundance of fluid in the ventricular/subarachnoid compartments of the cranium is known as….
hydrocephalus
hydrocephalus can be caused by two general mechanisms:
the overproduction of CSF or impaired drainage of CSF
obstruction of the cerebral aqueduct, secondary to masses or viral infection is one etiology of hydrocephalus. This is called
aqueductal stenosis
in an infant, abnormal enlargement of the head or accelerated rate of head enlargement is likely due to …
hydrocephalus
an older child (whose cranium has already closed) with hydrocephalus may present with
irritability, lethargy, poor appetite, vomiting, headache
a young child (whose cranium is still not closed) with hydrocephaly may present with symptoms that include…
brisk tendon reflexes, spasticity, clonus
Sturge-Weber Syndrome is what type of disorder?
a rare neurocutaneous disorder (aka-phakomatose)
Another term for Sturge-Weber Syndrome is…
encephalotrigeminal angiomatosis
A 5-year-old male presents with an unprovoked convulsive episode that lead to right-sided hemiparesis. On physical exam, a port wine stain is appreciated, affecting the ophthalmic and maxillary division of the trigeminal nerve on the left side of the face. Head CT shows brain calcifications.
Sturge-Weber Syndrome
A newborn boy is born to a young mother via a normal spontaneous vaginal delivery. She had not had any prenatal care during her pregnancy. On physical exam, the newborn has a large port-wine stain on the left forehead and eyelid. He is also noted to have some shaking episodes. Concerned, the physician obtains an MRI of the head, which shows a leptomeningeal angioma.
Sturge-Weber Syndrome
A patient with this disorder will present with facial nevus around the eye (and primarily over the V1/V2 area), developmental delay and learning problems, seizures within the first year, glaucoma may be present in ipsilateral eye
Sturge-Weber Syndrome
What is another term for facial nevus?
port-wine stain
This disorder is derived from: A vascular abnormality that develops as the primordial vascular supply to the head, brain and face. The abnormality ultimately causes the leptomeninges (arachnoid and pia) to be over vascularized and the brain to be undervasculated . This causes the brain to calcify and atrophy.
Sturge-Weber Syndrome
A degenerative process of the cerebral cortex resulting in senile dementia is most likely
Alzheimer’s Disease
When does Alzheimer’s Disease usually present?
7th-9th decades of life
Diffuse atrophy of the cerebrocortex with ventriculomegaly, sulcal enlargement, hippocampal atrophy, neuritic plaques, neurofibrillary tangles are common signs of what disease?
Alzheimers disease
Neurofibrillary tangles seen in Alzheimer’s disease contain…
hyperphosphorylated tau proteins
neuritic plaques (senile plaques) seen in Alzheimers disease contain…
A-beta amyloid
A 78-year-old man presents to his primary care clinic and is accompanied by his wife. He feels well, but his wife is concerned that he has become more confused over the past few weeks. He enjoys socializing with family and friends, but sometimes has difficulty finding words and recently forgot his niece’s name. He walks around his neighborhood for exercise, but has the tendency to wander and get lost. He has a history of hypertension and atrial fibrillation. Current medications are warfarin and dronedarone. Physical exam is unremarkable. Recent lab results were within normal limits.
Alzheimers Disease
Common genes involved in Alzheimers Disease are…
Presenilin genes (located on chromosomes 1 and 14)
A 61-year-old male presents with left-sided hand weakness and trouble with walking. He is not sure why these symptoms occur. On physical exam, tongue fasciculations are appreciated. He has slow speech. The left upper extremity shows forearm atrophy and depressed reflexes. The right lower extremity is hypertonic, with 3+ reflexes, and positive Babinski sign.
Amyotrophic Lateral Sclerosis
Lou Gherig’s Disease is another term for…
Amyotrophic Lateral Sclerosis
If astrocytes fail to remove glutamate from the synaptic cleft, a patient will experience continuous motor neuron activity leading to excitotoxicity, oxidative stress, failure of superoxide dismutase enzymes and cell death. This is the pathogenesis of what disease?
Amyotrophic Lateral Sclerosis
The hallmark of this disease is the death of peripheral motor neurons from the ventral horn and brainstem nuclei as well as the bulbospinal and corticospinal neruons in the brainstem and cerebral cortex. (So…neurons in BOTH the peripheral and central motor systems are effected)
Amyotrophic Lateral Sclerosis
Which branches of the nervous system remain intact in a patient with ALS?
peripheral sensory system, central sensory system, autonomic nervous system
Cause of death in an ALS patient is usually due to…
respiratory failure
Presentation of this disease is initially asymmetric involving one hand and then progresses to symmetric involvement. The pt. will experience cramping of muscles, usually early in the morning.
ALS
Flaccid weakness, atrophy and fasciculations will be present in an ALS patient due to what type of neuron involvement?
Spinal motor neurons
In ALS, spastic weakness is due to involvement of what type of neurons?
Corticospinal motor neurons
A patient with ALS will present with dysphagia, dysarthria and dyspnea due to what type of neuron involvement?
Bulbar motor neurons
This disease is the classic form of progressive, hereditary spinocerebellar ataxia. It involves significant loss of myelinated fibers in the posterior columns, spinocerebellar tracts and the corticospinal tracts of the spinal cord.
Friedreich Ataxia