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
Hemiplegia examination
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)
visual field deficits: lesion must be at. the level of internal capsule or above
If face affected and UMN signs:
- internal capsule or cortex stroke
- a stroke at the level of the pons can mimic a Bells palsy (LMN lesion)
MCA stroke will affect the face and arm more than leg
ACA stroke will affect the leg more than face and arm
Subcortical stroke (eg internal capsule) can cause all of these equally as the fibres are close together
THEN LOOK AT CHEST FOR MEDIAN STERNOTOMY
Causes paraplegia
Spina bifida
Syringomyelia
Tethered cord
Hereditory spastic paraplegia
Epidural abscess
ADEM/TM/MS
Tumor eg neurofibroma, meningioma
Spastic quadriplegia causes
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
Ive found upper and lower motor neuron signs- help!
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
Causes macrocephaly
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
Causes microcephaly
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
Dandy walker malformation
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
Syringomyelia
Loss of pain and temperature sensation upper limbs/at level of lesion, touch and vibration is spared
Reduced or absent reflexes in hands
Spastic paralysis in legs
Often associated with type 1 chiari malformation
Type 2 chiari malformation is associated with Spina bifida
Periventricular leukomalacia is associated with what type of CP
Trick question!
All types
Commonly spastic diplegia, but can also lead to quadriplegia, hemiplegia or hypotonic CP
Friedericks ataxia exam findings
Ataxia
Loss of proprioceotion and vibration sense
Pes cavus
Romberg positive (ie sensory)
Upgoing planters
+/- murmur ( cardiomyopathy)
UMN signs above lesion and LMN signs below level of lesion seen in …
Spina bifida
Transverse myelitis
Spinal cord injury
(flaccid paralysis below)
Sensory level!!!
SMA exam findings
Hypotonia
Areflexia
Weakness LL>UL, proximal >distal
Cranial nerves normal “alert face”
Normal sensation
Neuropathy exam findings
Hypotonia
Hypo/areflexia
Weakness LL>UL, distal > proximal
Abnormal sensation- vibration, temperature sensation
Muscle atrophy
Hand and foot deformity
Normal cranial nerves
eg CMT, guillian barre, nerve injury
Ataxia telangiectasia
Ataxia
telangiectasia
non ambulant by age 10
loss of reflexes
all cerebellar signs
Antalgic gait differentials
- Perthes disease (age 3-10 years
- Slipped upper femoral epipheses (obesity, hypothyroid)
- Missed DDH
- Arthritis
- any sore joint !
Toe walking differentials
- Spastic diplegic CP
- Muscular dystrophy
- Tethered cord (spina bif or spinal dysraphism)
- Austism
- Idiopathic habitual (if normal neuro exam)
Neuropathic/high stepping gait
- High step from hip due to foot drop
- Muscle wasting
- Pes cavus
- Reduced or absent reflexes
- Distal weakness
- DDx: CMT or other inherited peripheral neuropathies, GBS, chronic inflammatory demyelinating polyradiculoneuropathy spina bifida
Spastic diplegic gait
- LL>UL (corticospinal tracts for the legs are closest to the ventricles)
- Flexion of hips and knees, adduction of hips and knees “scissoring”
- Usually plantarflexion (ankle equinus), foot drag + inversion
- Short step length
- Usually due to bilateral PVL in preterm babies
- Cannot walk on heels (most people should be able to do this by 4 years)
- DDx: hereditory spastic paraplegia (UL+ LL both affected)
Spinal cord lesion or spinal dysraphism (would see neurogenic bowel and bladder as well)
Waddling gait
- Weakness of hip abductors
- When both adductors are weak = waddling gait (swinging upper body side to side/truncal sway)
- Trandelenburg sign: if patient has weakness on one side of pelvis, when standing on that side, the pelvis on the other side will drop
- If see this: ask to toe walk (can do), and heel walk (difficult), squat and gowers
- –> look for muscle wasting o proximal muscles, calf hypertrophy, look at shoulder girdle muscles
- Later when doing neuro exam, can check for weakness of hip adductors
DDx: DMD, BMD, other muscular dystrophies, congenital myopathy, myotonic dystrophy (myopathic facies, ptosis, delayed relaxation on hand, percussion myotonia of thenar eminance, reduced reflexes)
Ataxic gait
- At rest: wide stance
- Broad based gait
- Truncal titubation, may lurch or jerk to one side
- Worse when asked to narrow the stance and do tandem gait ( heel toe)
- Rhomburg: unable to stand still with eyes open = cerebellar (if can do when eyes open but not closed this is a proprioception problem not cerebellar)
- Pronator drift: UMN or cerebellar lesion
- Causes: cerebellar (vermis or hemisphere) or posterior columns
Eg. Joubert syndrome (hypoplasia of cerebellar vermis + brainstem= ataxia, hypotonia, abn eye movements, intellectual disability), cerebellar hypoplasia, ataxic CP, posterior fossa tumor (eg medulloblastoma), post infectious cerebellitis, Freidericks ataxia (also pes cavus, absent ankle jerk, spasticity, hypertrophic cardiomyopathy), ataxia telangiectasia, B12/vit E deficiency
MUST EXCLUDE WEAKNESS before attributing to cerebellar cause
Hemiplegic gait
- Reduced muscle bulk on affected leg
- Asymmetry of gait
- Equinus deformity or plantarflexed foot
- Arm posturing (adducted at shoulder, flexed at elbow, pronation at wrist and flexed fingers) and reduced arm swing
- Truncal sway: Affected hip rises higher to clear floor, leg has reduced flexion at hip, knee and ankle
- Hip hitching or circumduction
- Poor clearance of foot in swing phase
- More obvious when running and fogg test
- ACA stroke/PVL: UMN leg>arm
- MCA stroke/HIE/IVH : UMN face and arm and speech >leg
Differentiate level of the lesion by facial involvement
Duane syndrome
1: unable to ABduct
2: unable to ADDuct
3: unable to adduct or abduct
globe retraction and lid narrowing with adduction
clinical diagnosis
Floppy strong
UMN signs
Normal antigravity movement
Causes:
- HIE (MRI B)
- intracranial haemorrhage (MRI B)
- Congenital infection or early post natal aquired infection (eg viral encephalitis) (MRI B, TORCH serology)
- Cerebral malformations (MRI B)
- Syndromes: T21, Prader Willis Syndrome (karyotype, MLPA, microarray)
- Syringomyelia (MRI spine)
- Zellweger syndrome (VLCFA)
- other metabolic (ammonia, amino acids, lactate)
- Hypothyroidism (TFTs)
Floppy weak
LMN signs
Reduced or absent antigravity movement
+/- fasiculations
+/- myopathic facies
+/- respiratory difficulties
SMA (MLPA gene analysis SMN1 gene)
Myasthenia gravis (AchR antibodies)
Congenital myotonic dystrophy (PCR analysis DMPK gene)
Congenital myopathy (muscle biopsy)
Hereditory neuropathy eg CMT (nerve conduction studies, microarray)
Pompe disease (CXR, CK, LFTS alpha glucosidase bloodspot)
Neuromuscular gene panel!!!
Hemiplegia spiel
There were unilateral upper motor neuron signs with hypertonia, hyperteflexia, Upgoing plantar and clonus involving the upper and lower limbs
There was also weakness with /5 power on the … side
Arm posturing and circumductive gait consistent with hemiplegia
This could be at the level of brain or spine; I think this is more likely to be …. Due to ….
(scar on spine, lack of facial involvement)
Differentials for hemiplegia could include haemorhhagic or ischaemic stroke, hypoxic insult, infective, neoplastic and traumatic causes
In terms of haemorrhagic causes, these could include intracerebral or intraventricular haemorrhage, which can be from prematurity, HTN, thrombocytopenia or hemophilia (NF1)
In terms of ischaemic stroke this could be from arteriopathies or thrombosis which can be from sickle cell anemia, thrombophilia or embolism from CHD (NF1, sturge webber, CHD)
In terms of hypoxic insults, these include PVL, status epileptics, cardiac arrest or HIE
In terms of infective insults these include meningitis, encephalitis and cerebral abscess
Tumor -NF1, glioma
Demyelinating- ADEM, TM, MS
Trauma- accidental or non accidental
In terms of spinal lesions, this could be epidural abscess, trauma, TM, syringomyelia
Cerebellar signs spiel
There was a broad based gait, ataxia, slurred speech, hypotonia, intention tremor, nystagmus in keeping with a cerebellar lesion
There is a wide range of differentials for this including cerebellar lesions or congenital malformations, posterior fossa tumor, post infective or ischaemic insults ; genetic causes such as FA and AT
Less likely would be vitamin e or b12 deficiency
Seizure differentials
Syndromes: TSC, Sturge Webber
Cerebral malformations
Electrolyte disturbances
Trauma
Infection
Post stroke - haemorrhagic or ischaemic
Bitemporal hemianopia
pituitary adenoma
craniophyringioma
suprasellar tumor
Homomanous hemianopai differentials
lesion (stroke, tumor) in the CONTRALATERAL occipital lobe or optic tract
top tip for any kid with a shunt
say would check for papilloedema in case of shunt blockage
