Neuro- clinical exam Flashcards
Duchenne MD exam findings
LMN signs
May see walking aids, wheelchair, AFOs (contractures), gastrostomy
Proximal “limb girdle” weakness - Gowers sign
Normal face/EOM
No tongue fasiculations
Reduced reflexes (ankle preserved until last)- areflexic as disease progresses
Gait- waddling, toe walking
Calf pseudohypertrophy
Scoliosis
Can also examine:
Resp - signs of infection (atelectasis, aspiration)
CV- dilated cardiomyopathy (MR, TR murmur, S3)
Signs of chronic steroid use:
-HTN
-obesity
- moon faces
- acne, striae, hirsuitism
- cataracts, glaucoma
- bruising, poor wound healing
-osteopenia, pathological fractures
-mood disturbances
SMA exam findings
LMN signs
Defining feature is TONGUE FASICULATIONS
Reduced or absent reflexes
Alert face, normal eye movements, no ptosis
Weakness, more prominant proximally and LL>UL
Frog leg lower posture
Myasthenia gravis and other congenital myasthenic syndromes- defining clinical exam findings
Ptosis
Opthalmaplegia
+/- bulbar involvement
+/- respiratory involvement
Hypotonia
Normal/reduced reflexes
fatiguability
–> In the fatigability test, the patient is asked to hold an upgaze for 2–3 minutes, inducing fatigue of the levator palpebrae superioris. Further or complete closure of the eyelid would indicate confirmation of ocular myasthenia gravis.
–Ice Test:
This is also a simple diagnostic test that can be done in the clinic. It is highly sensitive and specific for MG. The ice test is useful for ptosis. An ice pack is applied to the affected upper eyelid for 2-5 minutes. A positive test is the improvement of ptosis by > 2mm or more. This transient improvement in ptosis is due to the cold decreasing the acetylcholinesterase break-down of acetylcholine at the neuromuscular junction. More acetylcholine collects in the junction and therefore increases the muscle contraction.
Peripheral nerve problems eg GBS, CMT clinical exam findings
LMN signs
Distal weakness (most others are PROXIMAL)
Reduced reflexes
Symptoms of CMT are progressive and can include:
Weakness in the muscles of the hands and feet
Pes cavus, claw toes
High-stepping gait and ‘slapping’ of the feet
Muscle wasting in the legs (distal >proximal)
Poor balance and occasional falls
Loss of sensation in feet and hands- touch , temp discrimination, vibration, proprioception
Symptoms of GBS are acute (but can take months to resolve) and include:
Symmetrical bilateral weakness ascending from the lower limbs first
Reduced sensation over areas of weakness
Areflexia: absent or reduced reflexes
Autonomic dysfunction: heart arrhythmias, tachycardia, hyper- or hypotension, anhidrosis, respiratory dysfunction
There is variation in the progression of symptoms and can take hours, days, or weeks to resolve. Symptoms will progress up to a maximum of 4 weeks, after which two-thirds of patients will recover and regain normal function within 6-12 months.
Congenital myotonic dystrophy examination findings
Myotonic dystrophy = delayed muscle relaxation
(can be congenital, childhood or adult onset)
Hypotonia
Hyporeflexia
Weakness can be either proximal or distal
MYOPATHIC/expressionless FACIES (ptosis, tent shaped mouth)
Contractures
Eyes- cataracts
Intellectual disability
Resp distress, WEAK COUGH, aspitation, feeding difficulties
Scoliosis
Bulbar dysfunction - swallowing/speech difficulties
Examine mother- myopathic facies, delayed relaxation when shaking hands
**myopathy only appears at age ~10 years, not present in young kids
Spinal bifida examination findings
1) demonstrate the level of the lesion
2) functional assessment
3) look for associated abnormalities/complications
Growth (short due to scoliosis)
HC (hydrocephalus), look for shunts
Inspection:
- posture at each joint (eg flexed at hip, hyperextended at knee)
- spontaneous movement
-deformities
- muscle bulk (upper vs lower limbs)
BACK- look for scar, what level ; scoliosis
Eyes: EOM, squint
Abdomen: scars (vp shunt), palpable kidneys (hydronpehrosis from neurogenic bladder), percuss bladder for urinary retention
- may have Mitrofanoff (urine) or MACE (bowels)
Full neuro exam starting at lower limbs
upper limbs for signs syringomyelia (reduced sensation in cape like distribution, reduced power)
SENSATION (usually gone)- pin in infants, full neuro in older children (light touch and pain)
Lesions above L1- paraplegia (L1/L2 responsible for hip flexion/abduction )
Thoracic lesions= flaccid lower limbs, held in frog leg posture
flaccid paralysis more common but can also have spastic paralysis
Myopathic facies seen in
NMJ (eg Myasthenia gravis) or muscular disorders (eg congenital myotonic dystrophy or congenital myopathy)
Non neurological cause of floppy strong infant
connective tissue disorders eg Marfans, Ehlers danlos syndrome
Common cases with cranial nerve abnormalities
Facial nerve palsy
Duanne syndrome
Mobeus syndrome
Causes ataxia
1) cerebellar
- hypoxic eg ataxic CP
- infectious eg meningitis, CB abscess
- structural: Dandy walker malformation (will have VP shunt), Chiari malformation, absence of CB vermis (Joubert syndrome), congenital CB hypoplasia
- post viral cerebellar ataxia esp VSV
- genetic: ataxia telangiectasia, Friederichs ataxia, Bardot Biedel
- Metabolic: Krabbe, Wilsons Tacy Saches
- nutritional: vitamin E deficiency
- brain tumor eg medulloblastoma, neuroblastoma
- Multiple sclerosis
2)Vestibular: labyrinthitis
3) Posterior column loss: -loss of proprioception + vibration sense
-B12 + vitamin E deficiency
-diabetes
-hypothyroidism
- Friedericks ataxia
4) peripheral neuropathy
- drugs eg vincristine, cisplatin
-GBS
-b12 deficiency
b12 deficiency exam findings
ataxia
spasticity
loss of vibration and proprioception
glove and stocking sensory loss
hyporeflexia in ankles
vit E deficiency exam findings
loss of vibration and proprioception
hyporeflexia in ankles
weakness
reduced visual fields/night blindness
glove and stocking sensory loss
ataxia
Chiari malformation exam findings
1)Obstructive hydrocephalus (look for big head and VP shunt)
2)Cerebellar signs, including ataxia, dysmetria, and nystagmus, and lower cranial nerve deficits (IX, X, XI, XII CN) result either from direct compression of the cerebellum or medulla at the foramen magnum or from syringomyelia or syringobulbia
3)Numbness in a cape like distribution (from syrinx)
4)Chiari 2 almost always associaed with myelomeningocele (spina bifida)
***almost all babies with myelomeningocele will also have an arnold chiari malformation and hydrocephalus
Sturge Weber syndrome
- port wine stain
–> if above eyebrow causes developmental issues
ALWAYS screen eyes for glaucoma, seizure, intellectual disability
Friedericks ataxia
Ataxia
Lower limb weakness
Reduced/ absent reflexes
Reduced sensation, inc vibration and position
Upgoing plantsrs
Dysarthria
Hypertrophic cardiomyopathy
Pes cavus
Scoliosis
Diagnostic criteria NF-1
- Six or more CALMs equal to or greater than 5 mm in longest diameter in prepubertal patients and 15 mm in longest diameter in postpubertal patients
- Two or more neurofibromas of any type or 1 plexiform neurofibroma
- Freckling in the axillary or inguinal regions (Crowe sign) * Not typically detectable until age 5 or later
- Optic glioma (OPG)
* May be present in infancy
* Early detection critical for preserving vision - Two or more iris hamartomas (Lisch nodules)
* Not detectable (without slit-lamp examination)
* Does not affect vision - A distinctive osseous lesion, such as sphenoid wing dysplasia or long-bone dysplasia
- A first-degree relative (parent, sibling, or child) with NF1 according to the aforementioned criteria
2+ of the above clinical criteria
Diagnosis:
A germline NF1 pathogenic variant must be identified for genetic testing to serve as a criterion for diagnosis [Legius et al 2021]. The criterion is not met by identification of an NF1 variant only in tumor tissue or identification of a germline likely pathogenic variant or variant of uncertain significance.
Negative NF1 molecular testing does not rule out a diagnosis of NF1
Some individuals diagnosed with NF1 based on clinical criteria do not have a pathogenic variant detectable by current technology. Many clinical features of NF1 increase in frequency with age, and some individuals who have unequivocal NF1 as adults cannot be diagnosed in early childhood, before these features become apparent.
AD- look at parents
Multiple sclerosis
Brain + spinal cord affected
Usually eye changes (visual loss, eye muscle weakness) + motor/sensory loss/ataxia
Bowel or bladder incontience
Transverse myelitis
Only spinal cord affected
- bilateral symptoms but not always symmetrical w clearly defined sensory level
Lower limb neuro:
paraparesis
low tone
normal muscle bulk
normal or reduced reflexes
Parasthesia
sensory impairment from level of lesion
Autonomic features of TM include urinary urgency, bladder/bowel incontinence, difficulty/inability to void, constipation
Urinary retention may be the first sign of myelitis
MRI spine: 3-4 segments affected
Causes diplegia
Diplegic CP (eg from PVL, meningitis)- arms affected to variable extent
Transverse myelitis (mixed UMN + LMN)
ADEM
Multiple sclerosis (UMN signs + optic neuritis, nystagmus, reduced sensation/parasthesia, cerebellar signs)
Neoplasm
Hereditary spastic diplegia
Causes hemiplegia
Perinatal stroke
–> Arterial ischaemic stroke:
1) arteriopathy eg arteritis due to meningitis
2)thrombosis eg thrombophilia (protein c, protein S, antithormbin 3 etc), sepsis, sickle cell anemia
3) embolism eg CHD
NF1
–> Intracerebral haemorrhage or intraventricular haemorrhage (can be caused by prematurity, HTN, thrombocytopenia, haemophilia
Unilateral insult such as PVL or ivh
Venous sinus thrombosis
Infection - meningitis, encephalitis, cerebral abscess
Trauma
Brain tumor
Hypoxia: cardiac arrest , birth asphyxia
Spine: MS, trauma, Spina bifida, epidural abscess
Ix-mri brain and spine, echo , fbe abd film , coags
Causes upper motor nerve lesions
SCIT
Systemic:
Coagulopathy: SLE, F Vleiden
ALL, sickle cell, NF1
Sturge Webber
Cardiac:
emboli, ischemia, HTN, CHD
cerebral thrombus/abscess
Moya moya
Cerebral AVMs
Infective: bacterial meningitis, encephalitis, cerebral abscess
Traumatic
