Neuro 1

Question 1

Plain Radiograph of skull (3)

Answer 1

1. Linear fracture
2. Craniosynostosis
   * Birth defect in which one or more of the fibrous joints between the bones of your baby’s skull (cranial sutures) close prematurely (fuse)
   * Skull X-ray is first line test
   * Less radiation than a CT with bone windows
3. Ordered if a baby came in and hit their head and you’re considering a skull fracture

Question 2

Cranial ultrasound in infants and neonatal period (7)

Answer 2

1. Examines size of ventricles, subdural effusions
2. Will rule out enlarged ventricles as source of macrocephaly.
3. Used to monitor intraventricular hemorrhage in nursery
4. Use this if someone has an open fontanel
5. Good way to examine the ventricles and subdural effusions
6. Non-invasive and safe, done without sedation
   * Very good sensitivity and specificity
7. If someone has an enlarging head circumference → first line test is ultrasound

Question 3

Ultrasound of sacral spine (5)

Answer 3

1. Done prior to three months when the ossification of the posterior vertebral elements occur
2. If someone has a dimple at the base of their spine, hair tufts over spine or erythematous or nevous flameus over dimple
3. Use ultrasound of sacral spine to rule out spina bifida occulta
   * Can be picked up before 4 months old without having to put the child in an MRI
   * If ultrasound is positive, order MRI of LS spine to look for spina bifida
4. Can evaluate spinal anomalies, vertebral defects, and cord motion
5. Will pick up a tethered cord

Question 4

Computerized tomography (CT) of head (8)

Answer 4

1. Trauma
   * Send to CT because it is very quick – use if a child has been in an accident, etc.
2. Craniofacial
   * Bone windows
3. Temporal bone disease
4. Size of ventricle
5. Bony changes of histiocytosis, neuroblastoma
6. Does not image posterior fossa, brain stem as well as MRI
7. Involves a lot of radiation
8. Images blood well in the emergency room

Question 5

Radiation Risk and CT Scanning (5)

Answer 5

1. Children at greater risk
2. Inherently more radiosensitive and they have more life years to get radiation induced cancer
3. CT of head and abdomen: most common
4. Looked at radiation exposure, younger the child the more dangerous it is
   * The younger the child, the more radiation
5. Can increase cancer risk

Question 6

MRI (5)

Answer 6

1. Can detect intrinsic changes in water content and soft tissue of the brain.
2. Can give image with high spatial resolution as well as multiple planes and three dimensional images
3. Good for imaging posterior fossa and brain stem.
   * Requires sedation
4. Open MRI images are not as good as closed MRI
   * Constrast dye
5. NEED to get normal renal functions before MRI

Question 7

Functional MRI (3)

Answer 7

1. Used to measure minutes changes in cerebral blood flow during visual, motor or verbal tasks.
2. Can be useful for mapping cortical speech and motor area prior to resection of brain tumors or seizure foci
3. Uses dye

Question 8

Magnetic Resonance Spectroscopy (3)

Answer 8

1. Helpful in evaluation of brain chemistry
2. Helpful in determining degree of malignancy of brain tumor and metabolic abnormalities
3. Used a lot in neuro oncology, primary care not ordered with MRS

Question 9

Magnetic Resonance Angiography (4)

Answer 9

1. Imaging blood flow in the large arteries and veins
2. Can evaluate vessel patency, flow magnitude, as well as flow direction
3. Images intracranial vasculature without use of angiography.
4. Good for aneurysms, vascular malformations, arterial trauma, and occlusive vascular disease
   i. Vascular anomalies of the brain
   ii. Bleed in brain, aneurysm, or some moya-moya disease, or arterial disease
   iii. MRA = vascular blood vessel abnormalities
   iv. Kids with sickle cell*

Question 10

Myotonic Muscular Dystrophy: MMD1 (6)

Answer 10

1. Most common type of MMD seen in children
2. Results from an abnormal DNA expansion in the DMPK gene on chromosome 19.
3. The age of onset is roughly correlated with the size of the DNA expansion
4. Caused by abnormally expanded stretches of DNA.
5. The expansions effect various cells, particularly the cells of the voluntary and involuntary muscles, including the heart and some nerve cells
6. Inherited in an autosomal dominant pattern

Question 11

Congenital-onset MMD1 (5)

Answer 11

1. Begins at or around the time of birth
2. Characterized by severe muscle weakness, cognitive impairment and other developmental abnormalities.
3. Occur only when the DMPK gene flaw comes from the mother.
4. A mother with a small CTG repeat expansion and few or no noticeable symptoms can give birth to a baby with a large CTG expansion and the congenital- onset form of MMD1.
5. Repeats lead to cognitive impairments

Question 12

Juvenile-onset MMD1 (4)

Answer 12

1. Begins during childhood (after birth but before adolescence)

Characterized by

2. Cognitive and behavioral symptoms
3. Muscle weakness
4. Myotonia (difficulty relaxing muscles after use) and other symptoms → difficulty letting go of hand

Question 13

Adult-onset MMD1 (6)

Answer 13

1. Begins in adolescence or early adulthood

Characterized by

2. Slowly progressive weakness
3. Myotonia
4. Cardiac abnormalities
   * Arrhythmia and can kill them
5. Kids also get seen by cardiology
6. Sometimes, mild to moderate cognitive difficulties

Question 14

Medical Management of MMD1 (9)

Answer 14

1. No Cure – Currently enrolling for clinical trials
2. Vision Screening- cataracts and strabismus: common
3. Cardiac Disease- Cardiomyopathy and arrhythmias
4. Anesthesia concerns- high risk for complications
5. Respiratory- BiPAP may be required, annual pulmonary evaluations
6. Cognitive and behavioral abnormalities -
   Neuropsychiatric evaluations
7. Difficulty chewing and swallowing- GT may be needed; choke, cannot swallow
8. Insulin resistance- Diabetes may evolve, close monitor and management
9. Muscle Weakness and Pain- Scoliosis management, adaptive equipment as needed

Question 15

Myasthenia Gravis Overview

Answer 15

1. Autoimmune disease

2. Antibodies are directed against the postsynaptic membrane of the neuromuscular junction

Question 16

Myasthenia Gravis Clinical Manifestations

Answer 16

1. Muscle weakness including difficulty swallowing fatigability
2. Prepubertal children - higher prevalence of isolated ocular symptoms
3. Lower frequency of acetylcholine receptor antibodies
4. Higher probability of achieving remission
   * Weaker at the end of the day rather than the beginning = think myasthenia gravis

Question 17

Myasthenia Gravis Diagnosis (5)

Answer 17

1. PE consistent with MG (Ptosis, diplopia, ect.)
2. Serologic testing for ACH binding, blocking, modulating, and antiMUSK antibodies
3. If the blood tests are negative-electrodiagnostic testing
   * In MG, a muscle’s response to repeated nerve stimulation declines rapidly.
4. Tensilon test: a fast-acting cholinesterase inhibitor.
   * A temporary increase in strength after this “Tensilon test” is consistent with MG.
   * Increase in strength
5. If a diagnosis of MG is confirmed, a CT scan, or magnetic resonance imaging (MRI) of thymus
   * Look for thymoma = reason in a young kid

Question 18

Myasthenia Gravis Treatment Options (4)

Answer 18

1. Acetylcholinesterase inhibitors (first line)
2. Thymectomy (post pubertal children usually)
3. Steroids used in combination with steroid sparing agents such as Azathioprine, Cyclosporine A, Cyclophosphamide, Tacrolimus, Rituximab
4. IVIG, Plasmaphoresis (to remove antibodies)

Question 19

Myasthenia Gravis Warnings (7)

Answer 19

1. Many prescription drugs can unmask or worsen symptoms of MG.

These include:

2. Muscle relaxants used during surgery
3. Aminoglycoside and quinolone antibiotics
4. Cardiac anti-arrhythmics
5. Local anesthetics
6. Magnesium salts (including milk of magnesia)
7. Respiratory failure when given cipro*** throws into myasthenic crisis

Question 20

Myasthenic Crisis (3)

Answer 20

1. Myasthenic crisis, an extreme episode of weakness that culminates in respiratory failure and the need for mechanical ventilation.
2. In some cases, the respiratory muscles themselves give out, and in others, weakness in the throat muscles causes the airway to collapse.
3. Myasthenic crisis can occur without warning, but it often has an identifiable trigger: Fever, respiratory infection, traumatic injury, stress, or drug

Question 21

Neuromuscular Diseases (6)

Answer 21

1. In all cases of suspected neuromuscular disease refer to a Neuromuscular Center (MDA Clinic).
2. There is at least one clinic in every state!
3. Refer EARLY, clinical trials are ongoing and early detection and proper management can greatly improve morbidity and mortality.
4. Include muscle disease in you differential when you see and elevated AST/ALT.
   * Muscular difficulties will have sky high AST and ALT
5. Encourage vaccines!
   * Influenza can kill a patient with a neuromuscular disease.
6. There is no such thing as a LAZY baby! Investigate further.

Question 22

Macrocephaly and Physical Assessment (5)

Answer 22

1. Transilluminate head with light.
2. Listen for cranial bruits.
3. Look for signs of increased intracranial pressure
4. Assess for signs of neurocutaneous disorders —café-au-lait spots, multiple epidermal nevi, and hypopigmented macules.
5. Carefully evaluate for extraocular movement particularly upward gaze (Intracranial pressure increase).

Question 23

Macrocephaly bony abnormalities (5)

Answer 23

1. Neurofibromatosis and café au lait go together
2. EOM should be evaluated because maybe they have increased ICP
3. Palsy on upward gaze
4. Multiple epidermal nevi – can be in brain and have a big head
5. Short extremities (Achondroplasia)

Question 24

Reasons for Megalencephaly (5)

Answer 24

1. Megalencephaly - head circumference > 98th percentile for age and sex
2. Anatomic: Due to increase in brain substance as a result of an increase in size and number of brain cells
3. Genetic: Parental head circumference is large and child’s development and neurological exam is normal
4. Associated with syndromes such as neurocutaneous disorders, achondroplasia, cerebral gigantism (Soto’s syndrome), Fragile X
5. Metabolic: Due to the deposit of metabolic products without an increase in the number of cells (Inborn Error of Metabolism)

Question 25

External Hydrocephalus (5)

Answer 25

1. Benign enlargement of subarachnoid space in the frontal or frontoparietal region 2. Usually improves by 18 months 3. Delay reabsorption of CSF by the vessels in subarachnoid space 4. Present with macrocephaly with a full but pulsatile anterior fontanel with normal ventricles. 5. Head size rapidly increases to 90% and then parallel the growth curve.

Question 26

External Hydrocephalus Incidence (4)

Answer 26

1. Common in male infants 2. Benign accumulation – causes head circumference to cross 2 lines 3. Do an ultrasound and external hydrocephalus 4. Actual hydrocephalus they will have large ventricles

Question 27

Microcephaly (5)

Answer 27

1. Head size that is two standard deviations below the mean for age, gestational age, and gender. 2. In a normal small head, 3. Brain should appear normal in sulcal pattern and have no destructive lesions. 4. If the head is 3 standard deviations below the mean, * Higher incidence of developmental delay with cognitive impairment 5. Refer to genetics and neuro

Question 28

Primary microcephaly genetics (4)

Answer 28

GENETIC 1. Lack of brain development 2. Autosomal dominant form of familial microcephaly * Milder 3. Associated with normal intelligence/mild mental retardation 4. Autosomal recessive form * Parents have normal head is associated with more severe mental retardation

Question 29

Secondary microcephaly (3)

Answer 29

1. Results from insult occurring to a normal brain during the last part of the third trimester, during delivery, neonatal period or in early infancy. Prevalence 2. 2.5% of all newborns with the severity of the microcephaly being related to the severity of mental retardation. 3. Zika virus link

Question 30

Perinatal Factors and Microcephaly Results from? (4)

Answer 30

1. Vascular damage to the developing brain from neonatal stroke 2. Thrombosis of the vessel 3. Hypoxic-ischemic encephalopathy 4. Intracranial hemorrhage or from congenital infection.

Question 31

Perinatal Factors and Microcephaly Age of Onsets (3)

Answer 31

1. Most common form of brain injury: Hypoxic-ischemic disease 2. Term infant: Neuronal injury predominates 3. Premature infant: Oligodendroglial or white matter injury predominates * Very low birth weight infant * 30 to 50% of infants are in the subnormal range in academic achievement


Question 32

Microcephaly Treatment (3)

Answer 32

1. Make sure all members of family are functioning normally 2. If prematurity and microcephaly 3. Close primary care follow-up including monitoring compliance with subspecialty referrals—ophthalmology, neurology, audiology, developmental pediatrics, and early intervention

Question 33

Disorders that can Mimic Seizures (7)

Answer 33

1. Syncope and convulsive syncope 2. Non-epileptic seizures (psychogenic) * Not post-ictal as long as you expect 3. Pain reactions 4. Panic Symptoms 5. Dissociative episodes and other psychiatric states 6. Sleep disorders 7. Narcolepsy

Question 34

Classification of Epilepsies: Seizure Type (3), Epilepsy Type (4), Epilepsy Syndrome (1)

Answer 34

1. Seizure type a. Focal onset b. Generalized onset – grand mal c. Unknown onset 2. Epilepsy type a. Generalized b. Focal c. Combined Generalized and focal Epilepsy d. Unknown 3. Epilepsy Syndromes a. Because of genetics – there is a category of epilepsy syndromes

Question 35

Etiologies of Epilepsies (6)

Answer 35

1. Etiologies a. Structural etiology b. Well known findings of mesial temporal lobe seizure with hippocampal sclerosis c. Gelastic seizures with hypothalamic hamartoma 2. Genetic etiology a. Best known Dravet syndrome is a pathogenic variant of SCN1A 3. Infectious etiology a. Neurocysticercosis, TB, HIV, Cerebra malaria or toxo, congenital zika b. Neurocysticercosis – grand mal seizures, traveled and lived in south america 4. Metabolic: aminoacidopathies, pyridoxine dependent 5. Immune: anti-NMDA receptor encephalitis 6. Unknown etiology

Question 36

Focal Onset Seizures

Answer 36

Local or widely distributed with focal seizures originating in subcortical structure *Focal seizure is then classified based on level of awareness during the seizure, not to whether the seizure has occurred

Question 37

Generalized Onset Seizures (5)

Answer 37

1. Motor or nonmotor (absence seizures) 2. Level of awareness is not used classifier for generalized seizures 3. Do not respond 4. After seizure, sleep more than usual 5. Non-motor generalized seizure = can look like day dreaming, do not respond, probably from the temporal lobe

Question 38

Additional Descriptions of Seizures (4)

Answer 38

1. Bilateral versus generalized (simultaneously in both hemispheres) 2. Atypical absence is it has a slow onset or offset, marked change in tone or EEG at < 3 per second 3. Clonic versus myoclonic: clonic is sustained rhythmic jerking and myoclonic to regular unsustained jerking 4. Eye myoclonia: absence of the eyelid myclonia refers to forced upward jerking of the eyelid during an absence seizure

Question 39

Focal Motor Onset Behaviors (10)

Answer 39

1. Atonic (focal loss of tone) 2. Tonic (sustained focal stiffening) 3. Clonic (focal rhythmic jerking) 4. Myoclonic (irregular, brief, focal Jerking 5. Epileptic spasms (focal flexion or extension of arm and flexion of trunk) 6. Focal motor seizure with behavior arrest involves cessation of movement and unresponsiveness 7. Focal autonomic seizures present with gastrointestinal symptoms, sense of heat or cold, flushing, piloerection, palpitation, respiratory changes or autonomic effects, sexual arousal 8. Focal emotional seizures present with emotional changes—fear, anxiety agitation, anger, paranoia, pleasure joy, ecstasy, laughing (gelastic) or crying (dacrystic) 9. Can produce somatosensory, olfactory, visual, auditory, gustatory, hold-cold sense or vestibular sensations 10. Smell something, hear something, vestibular or personality can change = anger

Question 40

New Types of General Onset Seizures

Answer 40

Motor 1. Grand mal replaced with tonic clonic i 2. Must know initial phase of seizure—tonic or clonic 3. Generalized myoclonic-tonic-clonic seizures begin with myotonic jerks follow by tonic clonic activity (juvenile myoclonic epilepsy 4. Nonmotor (absence)