NEURO Flashcards

1
Q

Nervous System Development

A

Environmental influences: nutrition, hormones, O2 levels, maternal life-style, state of health

Neural tube: neural plate, groove, folds tube

Embryonic development of CNS: disruption in any stage causes disorders

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2
Q

5 important components of neurodevelopmental hx

A

health history

behaviorial assessment

psychosocial assessment

school performance

developmental history

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3
Q

Types of neuro exams

A

Neurological eval

Neuropsychological eval = looks at your brain and nervous system affect the way you think and behave

Neurodevelopment evaluation – takes into account developmental levels

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4
Q

Localization of the Problem and History

A
  • If there is a problem with thinking or remembering, the problem may be localized in the hemispheres
  • If there is a problem with coordination the cerebellum may be where the problem is
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5
Q

Problem with arms/legs with bladder control or bowel control the problem is…

A

spinal cord

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6
Q

speech problem

A

left hemisphere

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7
Q

The more problems that the child presents with that do not localize to one area, the more likely the problem involves

A

Psychosocial realms

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8
Q

Mechanism of injury

Episodic history

A

Key to developing an action plan for an acute head injury or acute neurological event

Get as much information as possible from people on the scene of an actual event

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9
Q

Overall inspection of the body

Look for… (5)

A

Neurocutaneous lesions

Muscle atrophy

Weakness in gait

Abnormal positioning

An infant who should not have handedness with marked favoring to one side

Ask about birthmarks

Skin = dermatologic clue to underlying diseases

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10
Q

Ash leaf spot

A

white mark on skin

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11
Q

cafe au lait

A

brown skin macule

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12
Q

Flammeus nevus

A

Flat red capillary skin stains

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13
Q

Large calf muscles (in comparison to thighs) may indicate

A

Muscular dystrophy especially if child has pelvic girdle weakness

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14
Q

Increase in lumbar curve…

A

Lumbar lordosis

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15
Q

Marie Charcot Tooth Syndrome

A
  • Look for thin, stork like legs
    • Neuropathy will be present with distal weakness therefore wasting, stork like legs is a sign of peroneal nerve disease
    • Cuts that do not hurt
      • High arched, toe nail fungus, decreased reflexes
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16
Q

Myopathies present with

A

central weakness

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17
Q

Neuropathy present with

A

distal weakness

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18
Q

Overall inspection

Watch for… (3)

A

Tremors of the hands when moving or tremors of the tongue when not crying

Hypermobility – can be confused with hypotonia (low muscle tone)

Look for asymmetry of the foot – DIASTEMATOMYELIA

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19
Q

What is Diastematomyelia

A

Spinal cord malfunction

Type of spinal dysraphism

Longitudinal split in the spinal cord

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20
Q

Diastematomyelia Epidemiology

A

Split cord malformations are a congenital abnormality and account for ~5% of all congenital spinal defects

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21
Q

Diastematomyelia

Clinical Presentation

A

May be minimally affected or entirely asymptomatic

Presenting symptoms include: leg weakness, low back pain, scoliosis, incontinence

Nevus flammeus along spinal cord – abnormality of gluteal fold

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22
Q

Watch Patient Gait

A

Thumb facing, looks normal, arm swing

Thumbs should face forward

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23
Q

General Cerebral Function (6)

A
  1. age adjusted and developmentally adjusted
  2. Child developmental level in terms of school performance
    1. The examiner must keep the child’s interest to gain full cooperation
  3. Interesting materials
  4. Do one thing at a time
  5. Environment facilitates testing and is not distracting
    1. Use stickers as reinforcement
  6. Positive reinforcement
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24
Q

JOMAC

A

Judgement, problem solving

Orientation to time and space

Memory

Affective disturbances

Calculation disturbances

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25
Preschool Child (what they know)
* Does he recognize common objects -- sesame street characters * Know names of family members * Know where you buy food * Name one thing that you keep in the refrig * Knows if he has a pet and name * Count 3 objects * Note behavioral characteristics * Draw picture of himself * Child can give 3 wishes
26
Cerebral Function -- Affective
* Hyperactivity * Decreased attention span * Distractibility * Disinhibition * Emotional liability * Impulsivity * Hypoactivity * Lack of spontaneity * Low frustration level * Low self-esteem
27
2 years (13)
* Gains 5-6 lbs and 5 inches HC 2cm * Kicks ball forward * Removes article of clothing (not hat) * Combines two words * mild lordosis with protuberant abdomen * 8 more teeth to total 14-16 * Tower of 7 cubes * Imitate circular strokes * May draw a horizontal line * Empties trash can and drawers * Parallel play * Speech should be understood * Rotary chewing refined
28
3-5 years -- preschool POUNDS, INCHES Initiative vs. Guilt
Gain 4-5 lbs and 2.5-3.5 inches
29
3 years (15)
* Throws ball overhand * Names 4 animal pictures * Pedals tricycle * Puts on an article of clothing * Names one animal picture * Jumps up and down * Draws a person upon request with sticks * State age, sex * Involve other in play * Can count fingers * Hand muscle developed * Wants to do things by themselves * Learning to shre * Likes to help * Brushes teeth
30
4 years (9)
* Lordosis and round abdomen starts to disappear * Plays games with other children * Says what to do when tired, cold, hungry * Says first and last name when asked * Copies circle * Balances on each foot for 2 seconds * Can copy a + with demonstration * Finger muscles for tasks * Balance on 1 foot for 5 seconds
31
5 year old (5)
* Dresses without supervision * Copies a cross * Draws a person * Puts object on, under, in front of and behind when asked * Hops on one foot 2 or more times
32
6-12 years Industry vs. Inferiority
* Mastering skills that will be needed later as an adult * Winning approval from other adults, peers * Building self-esteem, positive self concept * Taking place in a peer group * Adopting moral standards
33
1st Grade
* Print 1st and last name * Write #'s 1-10 * Draws a person with 6 parts * Copies a square * Heel to toe walk * Knows the letters of the alphabet * Walk on alternate heels * Play sports * Friends * Peers
34
CN1 - Olfactory Nerve
– important to test for smell after a direct blow to the forehead above the nasal bridge which might involve a fracture of the cribriform plate – Not done often – Do not use 1-XII intact unless you test everything
35
CN 2 - Optic
* Test for vision * Vision test after a head trauma. Note and refer if acuity now falls in the abnormal range * Note shape of pupil * Penny test: * Follow it with their eyes. * After this, use the cold coin to test for sensation of cold.
36
CN 2 - Optic tests
* Examine the Optic Fundi * Test Visual Acuity * Test Pupillary Reactions to Light * Dim the room lights as necessary. * Ask the patient to look into the distance. * Shine a bright light obliquely into each pupil in turn. * Look for both the direct (same eye) and consensual (other eye) reactions. * Record pupil size in mm and any asymmetry or irregularity. * If abnormal, proceed with the test for accommodation. * Test Pupillary Reactions to Accommodation * Hold your finger about 10cm from the patient's nose. * Ask them to alternate looking into the distance and at your finger. * Observe the pupillary response ineach eye.
37
Horner's Syndrome
* Decreased sweating on the affected side of the face * Ptosis * Sinking of the eyeball into the face * Constricted pupil
38
CN 3, 4, 6 Oculomotor, trochler, abducens
* Inspect eyelids for drooping * Inspect pupils size for equality and reaction to light and accommodation * Test eye movements in the 6 fields of cardinal gaze. * Inspect pupils size for equality and reaction to light and accommodation * Test eye movements in the 6 fields of cardinal gaze.
39
Abducens
* Dysfunction of the sixth cranial (abducens) nerve can result from lesions occurring anywhere along its course between the sixth nerve nucleus in the dorsal pons and the lateral rectus muscle within the orbit. * The sixth nerve has the longest subarachnoid course of all cranial nerves and innervates the ipsilateral lateral rectus (LR) which abducts the eye
40
Increased ICP Abducens
* Can result in downward displacement of the brainstem, causing stretching of the sixth cranial nerves which are tethered in Dorello's canal. * Can occur secondary to a variety of different causes – Shunt failure – Pseudotumor cerebri – Posterior fossa tumors – Neurosurgical trauma – Venous sinus thrombosis – Meningitis – Lyme disease.
41
Mimics of 6th Nerve Palsy
Thyroid eye diseases Myasthenia gravis Duane's syndrome Spasm of the near reflex Delayed break in fusion Old blowout fracture of the orbit
42
Papilledema
Optic nerve with mild swelling
43
Grade I papilledema
Pathologic C shaped halo of edema surrounding the optic disk
44
Grade II papilledema
The halo of edema now surrounds the optic disk
45
Grade IV papilledema
With more severe swelling in addition to a circumferential halo, the edema covers major blood vessels as they leave the optic disk (grade III) and vessels on the disk (grade IV) The subretinal hemorrhage is present at 7 o clock
46
Nystagmus Vertical, horizontal, medication
note direction, speed ## Footnote * Horizontal nystagmus may be seen with labyrinthine, cerebellar, or brainstem pathology. * Vertical nystagmus may be seen with cerebellar or brainstem pathology. * Medication toxicity may cause both horizontal and vertical nystagmus
47
Abnormal pupils
Small, pinpoint, fixed, dilated, unequal
48
CN 3
Paralysis
49
Horizontal Nystagmus
Labyrinthine Cerebellar Brainstem pathology
50
Vertical nystagmus
Cellebellar or brainstem pathology
51
Medication toxicity
May cause both horizontal and vertical nystagmus
52
CN 5 or Trigeminal
* Inspect face for muscle atrophy and tremors * Palpate the jaw muscles as child makes a "monster face" clenching their jaws together. show upper and lower teeth * Test for touch and temperature sentation on either side of the face * Corneal reflex is deferred
53
CN7 - Facial Nerve
While the child is doing the monster clenched teeth face for the trigeminal nerve, look for facial symmetry When the monster face is over do a happy face Smile and frown Close eyes tight Puff cheeks
54
CN 7-facial nerve Central
Patient can elevate both eyebrows Close both eyes Loss of nasolabial folds
55
CN 7 - facial Peripheral
Unable to elevate eyebrow on right Right eye does not close and eyeball turns UP (Bell's phenomenon)
56
CN 8 - Acoustic
* In the younger child, use of a tuning fork to determine which ear the sound is louder on can be very difficult * Screen for hearing from 500-6000 or 8000 decibels to screen for higher frequency hearing loss that is found with mild sensorineural damage * Equilibrium is also determine by the 8th CN * Use of audioscope or audiometer for a routine hearing screen can test the 8th CN
57
Weber Test
* Placing a vibrating tuning fork on the middle of the forehead * Does patient hear it equally or feels or hears it best on one side or the other * Normal - same on both sides. * Unilateral neurosensory hearing loss - best in * the normal ear * Patient with unilateral conductive hearing loss - best in the abnormal ear.
58
Rinne Test
* Comparing bone condution * Placing the tuning fork on the mastoic process behind the ear * Air conduction * Assessed by holding the tuning for in air near the front of the ear * AC is GREATER than BC
59
Hearing Screening CONDUCIVE hearing loss
Eustachian tube dysfunction Ear fluid Hole in eardrum Fixed middle ear bone
60
Sensorineural hearing loss (4)
Noise induced hearing loss Presbycusis Meniere's disease Tumors of the auditory nerve
61
CN 9 Glossopharyngeal
Test ability to swallow Gag reflex is also part of the 9th CN but is not routinely done in school setting Test for sweet/sour taste
62
CN 10 - VAGUS
* Listen to vocal quality * Look for rise of soft palate as child says ah ah. * Swallowing difficulties? * Another way of getting the child to open his mouth is to have him say ha ha. Ha ha is funny and allows the child to be in control. * Watch the child swallow without giving fluid if head injured.
63
CN 11 - Spinal Accessory
* Head rotation against resistance to test the strength of the sternocleidomastoid * Upward shoulder movement that is stronger than examiners downward pressure tests the trapezius muscle strength.
64
CN 12 - hypoglossal
* Inspect tongue in the mouth. Look at symmetry, tremors, and atrophy * Pressure the tongue against cheek and check for strength. * Quality of lingual sounds like l, t, d, and n * With a unilateral lesion, the protruded tongue deviates toward the affected weaker side
65
Reflex Pearls
* Patient must be relaxed and positioned properly * Response depends on force of your stimulus * Use no more force than you need to provoke a definite response * Reflexes can be reinforced by having the patient perform isometric contraction of other muscles (clenched teeth) * Must evaluate for equality * Must make sure there is no spread if they are brisk * Distraction
66
Tendon reflex grading scale
0 -- absent 1 -- hypoactive 2 -- normal 3 -- hyperactive without clonus 4 -- hyperactive with clonus
67
BICEPS C5,6
* The patient's arm should be partially flexed at the elbow with the palm down. * Place your thumb or finger firmly on the biceps tendon. * Strike your finger with the reflex hammer. * You should feel the response even if you can't see it.
68
Triceps C6,7
* Support the upper arm and let the patient's forearm hang free. * Strike the triceps tendon above the elbow with the broad side of the hammer. * If the patient is sitting or lying down, flex the patient's arm at the elbow and hold it close to the chest.
69
Clonus
* If the reflexes seem hyperactive, test for ankle clonus: ++ * Support the knee in a partly flexed position. * With the patient relaxed, quickly dorsiflex the foot. * Observe for rhythmic oscillations
70
Brachioradialis C5-C6
* Have the patient rest the forearm on the abdomen or lap * Strike radius about 1-2 inches above the wrist * Watch for flexion and supination of the forearm
71
Abdominal (T8, T9, T10, T11, T12)
* Use a blunt object such as a key or tongue blade. * Stroke the abdomen lightly on each side in an inward and downward direction above (T8, T9, T10) and below the umbilicus (T10, T11, T12). * Note the contraction of the abdominal muscles and deviation of the umbilicus towards the stimulus.
72
Knee (L2, L3, L4)
* Have the patient sit or lie down with the knee flexed. * Strike the patellar tendon just below the patella. * Note contraction of the quadraceps and extension of the knee.
73
Ankle S1, S2
Dorsiflex the foot at the ankle Strike the achilles tendon Watch and feel for planter flexion at the ankle
74
Babinski
Should be upward until child walks Once child walks then downward
75
Chaddock
Stroke with a blunt point around the side of the foot, from external malleolus to the small toe In a positive test, there is dorsiflexion of the great toe
76
Oppenheimer
Firmly press down on the shin and run the thumb and knuckles along the anterior medial tibia toward the foot In a positive test, there is a dorsiflexion of the great toe
77
Snouting Reflex
wrinkling of nose like giving a kiss
78
9 months
* Roll to both sides * Sit well without support * Demonstrate motor symmetry without established handedness * Should be grasping and transferring objects hand to hand
79
18 month visit
* Sit, stand, and walk independently * Grasp and manipulate small objects. * Mild motor delays undetected at the 9-month screening visit may be apparent at 18 months.
80
30 month visit
* Most motor delays will have already been identified during previous visits. * Subtle gross motor, fine motor, speech, and oral motor impairments may emerge at this visit. * Progressive neuromuscular disorders may begin to emerge at this time and manifest as a loss of previously attained gross or fine motor skills.
81
48 month visit
* Early elementary school skills, with emerging fine motor, handwriting, gross motor, communication, and feeding abilities that promote participation with peers in group activities. * Concerns about motor development is concerning. * Loss of skills - progressive disorder.
82
High Normal or Low tone
Measure CK and TSH
83
Key elements of motor history
* Delayed acquisition of skill- Is parent concerned * Involuntary movements or coordination impairments * Is there anything your child is doing that concerns you? * Regression of skill * Is there anything your child used to be able to do that he or she can no longer do? * Strength, coordination, and endurance issues • Is there anything other children your child’s age can do that are difficult for your child?
84
Neuromuscular exam in the infant
* Postural tone is assessed by ventral suspension in the younger infant * Postural tone is assessed by truncal positioning when sitting and standing in the older infant. * Extremity tone can be monitored during maturation by documenting the scarf sign in infants and popliteal angles after the first year * Persistence of primitive reflexes and asymmetry or absence ofprotective reflexes suggest neuromotor dysfunction. * Unsteady gait or tremor can be a sign of muscle weakness. * Diminution or absence of deep tendon reflexes can occur with lower motor neuron disorders, whereas increased reflexes * Abnormal plantar reflex can be signs of upper motor neuron dysfunction. * Neuromotor dysfunction can be accompanied by sensory deficits and should be assessed by testing touch and pain
85
Scarf sign tone assessment of shoulder girdle
With child supine or sitting (if able) pull arm across to the opposite shoulder until resistance occurs. Note elbow position in relation to the bilateral midclavicular line and midline of the chest
86
Popliteal angle for hamstring tone assessment
With child supine, flex the hip to 90 degrees, with child's torso supine on the table. Slowly extend leg at knee until resistance occurs. Note the angle between the lower leg and vertical
87
Observe for Strength (5)
* Observe symmetry while tripod sitting with symmetrical posture * Observe walking and then running, climbing, hopping, and skipping in the older child * Use of a Gower maneuver, characterized by an ambulatory child’s inability to rise from the floor without pulling or pushing up with his arms. * Muscle bulk and texture, joint flexibility, and presence or absence of atrophy should be observed. * Quality and intensity of grasp is most easily assessed by observation during play.
88
PA Caveats
* Must divide into fine motor skills and gross motor skills * Watching a child walk is important * Children cannot tandem walk forward until age 4 at the earliest but as late as age 6 is acceptable * Ask about milestones prior to coming into ed. * Ask about school-regular versus special education
89
Motor function (7)
Body posture Gait Balance Coordination -- tap foot on floor; alternating finger with thumb rapidly Gower's sign Tremors: resting, postural, intention Gait abnormalities
90
Grading Motor Strength
0/5 = no muscle movement 1/5 = visible muscle movement, but no movement at the joint 2/5 = movement at the joint, but not against gravity 3/5 = movement against gravity, but not against added resistance 4/5 = movement against resistance, but less than normal 5/5 = normal strength
91
Myotonic vs. Neuropathy
Spinal muscular atrophy, muscular dystrophy, myotonic dystrophy = MYOTONIC Marie charcot tooth disase = neuropathy
92
Duchenne Muscular Dystrophy Boys
Difficulty climbing stairs Running Jumping from standing position Frequent falls
93
DMD -- slow motor milestones
18 months - walking age 2-3 years = somewhat clumsy 3-5 years = difficulty keeping up with peers
94
DMD Clinical Manifestations
Weakness Consistent in pattern Proximal muscles weaken before distal Legs weaken before arms Extensors weaken before flexors
95
Duchenne's muscular dystrophy Progression
Toe walking Calf pseudohypertrophy (calf is as large as thigh) Positive Gower's maneuver Lumbar Lordosis Multifocal Contractures Trendelenberg gait Fatigue
96
Pronator Drift
* Ask the patient to stand for 20-30 seconds with both arms straight forward, palms up, and eyes closed. * Instruct the patient to keep the arms still while you tap them briskly downward. * The patient will not be able to maintain extension and supination (and "drift into pronation) with upper motor neuron disease.
97
Sensory
Pain Light touch Vibration
98
Proprioceptive and Cerebellar Function
Look at block stacking for intentional tremor Look at tandem gait Balance Gait - wide based and ataxic
99
Coordination and gait
Rapid alternating movements Point to point movements Romberg Gait
100
Rapid Alternating Movements
* Ask the patient to strike one hand on the thigh, raise the hand, turn it over, and then strike it back down as fast as possible. * Ask the patient to tap the distal thumb with the tip of the index finger as fast as possible. * Ask the patient to tap your hand with the ball of each foot as fast as possible.
101
Point to Point Movements
* Ask the patient to touch your index finger and their nose alternately several times. Move your finger about as the patient performs this task. * Hold your finger still so that the patient can touch it with one arm and finger outstretched. Ask the patient to move their arm and return to your finger with their eyes closed. * Ask the patient to place one heel on the opposite knee and run it down the shin to the big toe. Repeat with the patient's eyes closed.
102
Two point discrimination
* Use in situations where more quantitative data are needed, such as following the progression of a cortical lesion. ++ * Use an opened paper clip to touch the patient's finger pads in two places simultaneously. * Alternate irregularly with one point touch. * Ask the patient to identify "one" or "two." * Find the minimal distance at which the patient can discriminate.
103
Discrimination Graphesthesia
With the blunt end of a pen or pencil, draw a large number in the patient's palm. Ask the patient to identify the number.
104
Discrimination Stereognosis
* Use as an alternative to graphesthesia. ++ * Place a familiar object in the patient's hand (coin, paper clip, pencil, etc.). * Ask the patient to tell you what it is.
105
Neurodevelopmental Markers
Left to right confusion Hand preference Dystonic posturing Proximal inhibition
106
Left-Right confusion
Most children can identify left and right by age 8. Have the child touch his/her left ear with his right hand. Also ask the child to point to the examiners right hand with his/her left hand.
107
Hand Preference
* Hand preference is generally established by age 3. Left hand preference, or mixed hand preference are neurodevelopmental markers. * Screen for hand preference by asking the child to demonstrate how s/he holds a pencil, throws a ball, and hammers in a nail.
108
Dystonic Posturing
Dystonic posturing is stiffening of the extremities during a stressed gait or ehythmic movements The child hops in place or heel toe walk Penny on the nose -- hand goes up on weak side
109
Proximal Inhibition
The inability to inhibit proximal musculature while using distal muscles is a neurologic marker. • Screen for proximal inhibition by having the child rapidly alternate opening and closing of fists with arms extended, or by rapidly rotating the wrist while holding the arm up and hand above the head.
110
Quick Neuro Check
* Level of Consciousness * Motor function * Pupillary response * Vital signs * Signs of increased intracranial pressure * Glasgow coma scale * Best eye opening response (1-4) * Best motor response (1-6) * Best verbal response (1-5)
111
Neurophychological Eval
Used for learning disabilities Parents observations Formal observation: watching the child copy designs, pronounce words, or figure out an arithmetic problem is also part of the assessment
112
Head Trauma Simple - linear SKULL FRACTURE = Depressed\*\*\*
Hematoma at site Piece of bone depressed into brain
113
Skull fracture Compound
Laceration and depressed skull fracture Dura usually pierced Skull fragment may be displaced into the brain tissue
114
Skull fracture Basilar
Break in the posteroinferior portion of the skull occurs Produces dural tears that result in leakage of cerebrospinal fluid Meningitis
115
Epidural Hematoma
* Blood is between the dural surface and the skull and is usually the result of a tearing of the meningeal artery. * more common in older children than in toddlers and infants, because before age two, the middle meningeal artery is not yet embedded in the bony surface of the skull. • May not have loss of consciousness.
116
Epidural Hematoma Signs and Symptoms
Headache Decreased LOC Fever Dilation of the pupil on the affected side of the brain
117
Early signs of basilar fracture
* Blood behind the tympanic membrane * Nerve palsies (paralysis) * Deafness, or ringing in the ears * Dizziness; nausea; and vomiting. * Delayed signs and symptoms * Battle's Sign * Bruising over the temporal area * Raccoon sign * Bruising around the eyes
118
Meningitis Incidence and Causes
4000-10000 cases per year * Causes * The childs age is the predominant determinants of the common bacteria causes * Neonate * Infant * Child * Streptococcus pneumoniae or pneumococcus * Neisseria meningitidis or meningococcus
119
History of Meningitis
* Progression of illness * Exposure * History of otitis media * Underlying health problems -- immunodeficiency * Seizure * FOCAL - more common as initial presentation * GENERALIZED -- febrile seizures
120
Presentation of meningitis Newborn
* Fever * Nonspecific symptoms (eg, poor feeding, vomiting, diarrhea, rash) * Bulging fontanel * Irritable, restless, or lethargic.
121
Presentation of Meningitis Older Children
* Sudden fever * Headache, * Nausea, vomiting, * Confusion, stiff neck, photophobia Meningitis can cause seizures and decreased level of awareness
122
Meningeal sign Brudzinski Sign
* Flexion of neck causes flexion of hips and knees * Test for nuchal rigidity with head off table in your hands. * Gently flex the head at the neck until the chin touches the chest * Positive * When both the knees and hips are flexed in response to passive flexion of the neck towards the chest. * Reflex is due to exudate around the roots in the lumbar region
123
Meningeal signs Kernig
Associated with meningeal irritation and hamstring spasm Flex hip and knee, then straighten knee Excessive pain and resistance bilaterlly suggest meningeal irritation
124
Patients with VP shunt = different presentation
Low grade ventriculitis Headache Nausea Minimal fever Malaise
125
Viral Meningitis PA
Loss toxic and acute in presentation More common in the summer -- enteroviruses
126
Duchenne muscular dystrophy (DMD) Clinical presentation, 10 years
* Life limiting * Muscle wasting condition characterized by progressive muscle weakness and wasting * Due to absence of the protein **dystrophin** in the muscles. * Clinical presentation * Delayed or disordered motor or speech development and muscle weakness. • Over the last 10 years, improved standards of care have significantly increased the life expectancy in DMD.
127
DMD Incidence and Prevalence
* DMD is the most common muscular dystrophy in children and affects approximately one in every 4000 male newborns * No predilection for race or ethnic group * 1 in 3500 live male births * Estimated 8000 males in US with DMD * If mother is a carrier * 50% chance of affected male child & 50% chance of carrier female child * “Carrier Female” * ~8% of female carriers manifest mild proximal muscle weakness * 10% develop cardiac failure – Cognitive effects
128
S & S of DMD
* Abnormal muscle function * Delayed walking * Falls * Difficulty running and climbing stairs * Calf pseudohypertrophy * Progressive proximal musculature weakness * Waddling gait 2 degree girdle muscle weakness * Gower's sign * Increase in serum CK and transaminases (aspartate aminotransferase and alanine aminotransferase) * Delayed in attainment of developmental milestones
129
DMD dx late
Negatively affects access to genetic counseling, standards of care and potentially recruitment into clinical trials