Neuro- clinical exam

Question 1

Duchenne MD exam findings

Answer 1

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

Question 2

SMA exam findings

Answer 2

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

Question 3

Myasthenia gravis defining clinical exam findings

Answer 3

Ptosis
Opthalmaplegia
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.

Question 4

Peripheral nerve problems eg GBS, CMT clinical exam findings

Answer 4

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.

Question 5

Congenital myotonic dystrophy examination findings

Answer 5

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

Question 6

Spinal bifida examination findings

Answer 6

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

Question 7

Myopathic facies seen in

Answer 7

NMJ (eg Myasthenia gravis) or muscular disorders (eg congenital myotonic dystrophy or congenital myopathy)

Question 8

Non neurological cause of floppy strong infant

Answer 8

connective tissue disorders eg Marfans, Ehlers danlos syndrome

Question 9

Common cases with cranial nerve abnormalities

Answer 9

Facial nerve palsy
Duanne syndrome
Mobeus syndrome

Question 10

Causes ataxia

Answer 10

1) cerebellar
- hypoxic eg ataxic CP
- infectious eg meningitis, CB abscess
- structural: Dandy walker malformation, Chiari malformation, agenesis of CB vermis, CB hypoplasia
- acute CB ataxia post viral infection 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

Question 11

b12 deficiency exam findings

Answer 11

ataxia
spasticity
loss of vibration and proprioception
glove and stocking sensory loss
hyporeflexia in ankles

Question 12

vit E deficiency exam findings

Answer 12

loss of vibration and proprioception
hyporeflexia in ankles
weakness
reduced visual fields/night blindness
glove and stocking sensory loss
ataxia

Question 13

Chiari malformation exam findings

Answer 13

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

Question 14

Sturge Weber syndrome

Answer 14

• port wine stain
  –> if above eyebrow causes developmental issues
  ALWAYS screen eyes for glaucoma, seizure, intellectual disability

Question 15

Friedericks ataxia

Answer 15

Ataxia
Lower limb weakness
Reduced/ absent reflexes
Reduced sensation, inc vibration and position
Upgoing plantsrs
Dysarthria
Hypertrophic cardiomyopathy
Pes cavus
Scoliosis

Question 16

Diagnostic criteria NF-1

Answer 16

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
2. Two or more neurofibromas of any type or 1 plexiform neurofibroma
3. Freckling in the axillary or inguinal regions (Crowe sign) * Not typically detectable until age 5 or later
4. Optic glioma (OPG)
   * May be present in infancy
   * Early detection critical for preserving vision
5. Two or more iris hamartomas (Lisch nodules)
   * Not detectable (without slit-lamp examination)
   * Does not affect vision
6. A distinctive osseous lesion, such as sphenoid wing dysplasia or long-bone dysplasia
7. 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

Question 17

Multiple sclerosis

Answer 17

Brain + spinal cord affected
Usually eye changes (visual loss, eye muscle weakness) + motor/sensory loss/ataxia
Bowel or bladder incontience

Question 18

Transverse myelitis

Answer 18

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

Question 19

Causes diplegia

Answer 19

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

Question 20

Causes hemiplegia

Answer 20

Perinatal stroke
–> Arterial ischaemic stroke:
1) arteriopathy eg arteritis due to meningitis
2)thrombosis eg thrombophilia (protein c, protein S, antithormbin 3 etc), sepsis,
3) embolism eg CHD

–> Intracerebral haemorrhage or intraventricular haemorrhage (can be caused by prematurity, HTN, thrombocytopenia, haemophilia

Venous sinus thrombosis

Infection - meningitis, encephalitis, cerebral abscess

Trauma

Brain tumor

Hypoxia: cardiac arrest , birth asphyxia

Spine: MS, trauma

Question 21

Causes upper motor nerve lesions

Answer 21

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

Question 22

Hemiplegia examination

Answer 22

Most common cause will be IVH in premature baby
- clues : small from birth (ask for growth chart), may have VP shunt (look for scar on hear and abdomen), ventriculomegaly on MRI brain

AFOs, arm splint, wheelchair
VP shunt
Unilateral wasting (indicates chronicity)
Scars from tendon releases
Spasticity, contractures
UMN signs

Ask examiners if ok to move to upper limb exam rather than sensation

Then demonstrate affected upper limb

Then check cranial nerves- particularly CN 7 - to determine level of lesion (above or below the pons)

Question 23

Causes paraplegia

Answer 23

Spina bifida
Syringomyelia
Tethered cord
Epidural abscess
ADEM/TM/MS
Tumor eg neurofibroma, meningioma

Question 24

Spastic quadriplegia causes

Answer 24

Antenatal
- cortical malformations
- TORCH infections eg CMV

Perinatal
- prematurity
-IUGR
-severe bilateral IVH
- PVL
-perinatal asphyxia
- intracranial haemorrhage

Postnatal
- neonatal stroke
- trauma
- hypoxic event eg near drowning, cardiac arrest
-hydrocephalus

Metabolic
-leukodystrophies
-lots of others

Cervical spinal cord pathology
- trauma
-transverse myelitis
-spinal cord infarction

Investigations:
MRI B+ spine
TORCH screen
Urine matabolic screen + urine and plasma a.a + organic acids

Question 25

Ive found upper and lower motor neuron signs- help!

Answer 25

Spinal cord damage in C5-T1
eg syringomyelia, spinal tumor, transverse myelitis
–> LMN in arms, UMN in legs

Friedericks ataxia
–> spasticity, upgoing plantars but absent ankle jerks + pes cavus

Vit B12 deficiency
–> spasticity, upgoing plantars but absent ankle jerks

Multiple sclerosis
ADEM

Question 26

Causes macrocephaly

Answer 26

Familial
- measure parents head!

Large bones:
- achondroplasia
-osteogenesis imperfecta
-chronic hemolytic anemia

Large brain:
- sotos
- NF-1
-TS
-Sturge Weber
- hypomelanosis of Ito
- Metabolic: MPS, tay saches, leukodystrophy

Space occupying lesion:
- tumors, cerebral abscess

Intracranial bleed

Hydrocephalus

Question 27

Causes microcephaly

Answer 27

Cerebral malformations
Chromosomal /genetic (eg trisomies, Williams, Smith Lemli Opitz, Angelman, Miller Dieker lissencephaly)
Rhetts syndrome
TORCH infection
Fetal alcohol syndrome

Asphyxia with HIE
Meningitis, HSV encephalitis
Trauma
Hypothyroidism

Question 28

Dandy walker malformation

Answer 28

Agenesis/hypoplasia of the cerebellar vermis + cystic dilatation of 4th ventricle

Presents as :
1) macrocephaly secondary to hydrocephalus
2) hypotonia –> hypertonia
3) ataxia
4) developmental delay

Will need VP shunt in early life

Question 30

Periventricular leukomalacia is associated with what type of CP

Answer 30

Trick question!
All types
Commonly spastic diplegia, but can also lead to quadriplegia, hemiplegia or hypotonic CP

Question 31

Friedericks ataxia exam findings

Answer 31

Ataxia
Loss of proprioceotion and vibration sense
Pes cavus
Romberg positive (ie sensory)
Upgoing planters

+/- murmur ( cardiomyopathy)