PAEDIATRIC

NEUROLOGICAL
ASSESSMENT

Philemon Chizororo
YOUTUBE CHANNEL: NEXUS MEDICAL MEDIA
PAEDIATRIC NEUROLOGICAL ASSESSMENT
UPTODATE + UZ-PEADS CLERK MANUAL

The elements of a complete neurologic assessment are:

 Focused clinical history

 Detailed neurologic examination
 Additional parts of the general physical examination that are
relevant to child neurology
THE CASE HISTORY
The objectives:

 To establish rapport and trust with the child and family,

 To understand the nature of their health concerns regardless
of whether or not they pertain to the nervous system, and
 To anatomically localize the neurologic symptoms.
A skilled clinician is often able to arrive at a diagnosis by the time
a complete history has been taken and uses the examination to
confirm the diagnosis and determine the extent of impairment.

DEMOGRAPHICS
 Name
 Age
 Sex
 Address
 Religion

INFORMANT:
Date of admission:

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Hospital number:

REFERAL FROM:

PRESENTING COMPLAINT
Patients usually come with following symptoms:

 Not developing,
 Seizures,
 Abnormal movements, Behavioral changes

HISTORY OF PRESENT ILLNESS (HPC)

Fully characterize the patient's symptoms, including:

 The duration of symptoms.

 Whether symptoms are constant or episodic (episodic
symptoms are characteristic of transient ischemic attack,
syncope, seizure, or migraine).
 Whether symptoms are static, progressive, or resolving.
 Whether there is a pattern that suggests localization to a
specific anatomic region. As examples:
o Involvement of the cerebral cortex should be suspected
in patients with cognitive dysfunction and/or seizures
o Involvement of the brainstem may be accompanied by
double vision, dizziness, dysphagia, hoarseness of
voice, or impaired equilibrium
o Cerebellar disorders may be associated with altered
equilibrium and coordination in the trunk or extremities

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 o Disorders of the spinal cord may result in dissociation of
motor and sensory function below a certain altitudinal
plane and/or bowel and bladder dysfunction
o Disorders of the motor unit (anterior horn cells,
peripheral nerve, neuromuscular junction, muscle)
should be suspected in patients with weakness
manifested by inability to climb stairs, raise the arms,
grasp, stand, or walk
 Risk factors?
 Whether and to what extent the child's cognition, behavior,
and language are impacted and whether these symptoms
represent developmental delay or regression.
 Whether activities of daily living have been compromised.
 Whether rehabilitative measures have been put in place and
the specific types.
SYSTEMS REVIEW
In a patient with cerebral palsy
 Respiratory: respiratory difficulties, chronic aspiration into
the tracheobronchial tree
 Cardiovascular
 GIT: dysphagia, gastroesophageal reflux, chronic
constipation
 GUT:
 MSK: Paralysis? impaired ambulation, scoliosis, deformities
around joints of the extremities
 SKIN: Neurocutaneous lesions

MEDICAL/SURGICAL/ DRUG HISTORY

PHILEMON CHIZORORO 3
  Admissions?
 What has been done concerning the present condition
 Medications
o Current medications, nutritional supplements, and
alternative therapies, including:
 Indication
 Form of the medication (capsule, tablet,
suspension)
 Strength in milligrams/grams
 Route of administration
 Frequency
o Past medications and reasons for discontinuation
o Response to current and past medications

 Allergy history: Allergies to medications and the nature of

the allergic reaction should be recorded. This information
may inform the choice of therapies.

BACKGROUND HISTORY

PRENATAL HISTORY
 Mother's age at the time of pregnancy
 History of mother's previous pregnancies (gravida, para,
miscarriages, and gestational age at the time of
miscarriages), including history of preterm labor or delivery
and reason
 Was this pregnancy booked? HIV tests

PHILEMON CHIZORORO 4
  Review of all maternal laboratory and other testing, if
available, including fetal deoxyribonucleic acid (DNA) or any
other genetic testing if done
 Prenatal exposure to prescription and illicit drugs, alcohol,
radiation, and infections and the fetus's gestational age at
the time of exposure
 Amount of maternal weight gain during the pregnancy; both
inadequate and excessive weight gain increase the risk of
pregnancy complications and adverse outcomes in the fetus
 Exposure to systemic illnesses or infections that could affect
the developing fetal brain (eg, cytomegalovirus, Zika virus,
and other TORCH infections)
 Whether fetal movements were reduced (as seen in infantile
spinal muscular atrophy) or exaggerated (as seen in
intrauterine seizures associated with pyridoxine
dependency)
 Results of prenatal head ultrasound studies

LABOR AND DELIVERY

 Gestational age at the time of onset of labor and whether
labor was spontaneous, induced, or caesarean, and
indication if induced or caesarean
 Fetal presentation, length of the labor, and whether vacuum
or forceps extraction was used
 The infant's weight, length, and head circumference at birth
 Apgar scores at 1, 5, and 10 minutes
 Was BF initiated in the first hour? If so, was sucking good?
 Whether the infant needed resuscitation

PHILEMON CHIZORORO 5
  Whether the infant required neonatal intensive care and, if
so, for how long and whether there were any complications

NEONATAL PERIOD
 Significant events in the first few weeks of life include the
need for neonatal intensive care and, if so, whether the
infant required ventilatory support, oxygen therapy,
vasopressor therapy, resuscitation medications, exchange
transfusion, or extracorporeal membrane oxygenation.
 In addition, it is important to inquire about seizures in the
neonatal period and other signs of neonatal encephalopathy
and/or use of therapeutic hypothermia.
 Poor feeding, impaired sucking and swallowing, and sleep-
wake difficulties in the first month of life may be subtle
markers of brain dysfunction.
 If cranial ultrasounds and/or other neuroimaging studies
were performed during the neonatal period, the results
should be reviewed.
 Results of newborn screening also should be reviewed.
 First month?

FEEDING HISTORY
 Foods that may predispose to neurological conditions, e.g.
pork, poultry
 Is the child having a balanced diet? : predisposes to
malnutrition
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DEVELOPMENTAL HISTORY
 The child's age at acquisition of developmental milestones,
such as social smiling, developing adequate head control,
gurgling, reaching out for objects, rolling over, being able to
maintain a sitting position, coming to a sitting position
independently, crawling, walking independently, babbling,
and using first words, phrases, and sentences
 Some parents and caregivers are unable to recall the exact
age at which these milestones were achieved. They may,
however, have a good recollection of events surrounding the
child's first birthday; thus, one can help jog their memory by
asking about the child's abilities at that time, for instance,
"Did this happen by the first birthday?" The examiner should
be aware that in neurodegenerative disorders, a plateau in
development may precede the start of developmental
regression.
 As of this moment, he/she is operating at which age in terms
of Gross motor, fine motor, speech, and social
 Early identification of children with autism spectrum
disorders is accomplished through routine developmental
surveillance at well-child visits, with additional developmental
screening tests at specific visits or when developmental
concerns are raised

IMMUNISATION
 BCG (TB meningitis), Polio vaccines (Poliomyelitis)

FAMILY HISTORY
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  Many childhood neurologic disorders are inherited.
 Thus, the clinician should inquire about the health status of
all first-degree relatives (parents, siblings) and whether there
is a family history of neurologic conditions, systemic
disorders, or consanguinity.
 If other family members have neurologic disease, a pedigree
chart is often helpful.

SOCIAL HISTORY
 Housing status, including the age of the home and possible
lead exposure, can be relevant to neurodevelopmental
status.
 Clinicians should also inquire about any safety or
vulnerability concerns, including whether child and youth
services have been involved for either the patient or other
children in the home, especially if there are any concerns
about nonaccidental trauma or neglect contributing to
symptoms.
 What do parents do? Medical aid? Social welfare?

SUMMARY

DIFFERENTIALS

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PROBLEM LIST

NEUROLOGIC EXAMINATION

GENERAL CONCEPTS
 The examination begins with observation of the child during
the visit, even before starting the examination.
 This observation can provide insight into the spontaneous
ability of the child and can guide prioritizing certain
components of the examination if the child becomes less
compliant with hands-on examination.
 When examining toddlers, the initial phase of inspection is
best conducted while the child is seated in the parent's lap.
 This minimizes apprehension, which tends to alter the
assessment of higher cortical functions, muscle tone, and
tendon reflexes.
 It is also advisable to defer uncomfortable and anxiety-
provoking procedures until the end of the session, such as
otoscopy and checking of the gag reflex

HIGHER CORTICAL FUNCTIONS

 Observations of infants and toddlers during play (eg, while
stacking blocks or playing with an age-appropriate toy) can
provide valuable information about the patient's attention
PHILEMON CHIZORORO 9
 span, gross and fine motor coordination, and problem-
solving abilities.
 It allows the clinician to evaluate the higher cortical
functions, and it provides clues to specific learning
difficulties, attention deficit hyperactivity disorder, and mild
developmental delays.
 Joint attention, which requires eye contact with the parent or
caretaker and nonverbal or verbal affective responses from
the infant, develops by the age of nine months. The lack of
joint attention may be an early clue to autism

LEVEL OF CONCIOUSNESS

VITALS:
Hydration, Pulse, capillary refill, is the child in shock?

DYSMORPHISM

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ANTHROPOMETRY
Head

Examination includes measurement of head circumference and

assessment of the fontanels and cranial sutures:

Head circumference – The growth in size of the head is an

indirect marker for increase in the size of the brain. The
occipitofrontal head circumference (OFC) is measured by
placing the measuring tape across from just above the
eyebrows to the external occipital protuberance. The head

PHILEMON CHIZORORO 11
 circumference is compared with the standard measurements
for a given age. Serial head circumference measurements
are more reliable than a single recording.
o Macrocephaly is defined as OFC >2 standard
deviations (SD) above the mean for age, sex, and
gestation (ie, OFC ≥97th percentile).
o Microcephaly is usually defined as OFC ≥2 SD below
the mean for age, sex, and gestation (ie, OFC <3rd
percentile), although some individuals with OFC in
this range have no clinical abnormality. Severe
microcephaly is defined as OFC ≥5 SD below the
mean for age, sex, and gestation.

Fontanels
The anterior fontanel is felt for bulging (raised
intracranial pressure) or depression (dehydration).
For consistency, serial evaluations of the fontanel
should always be performed in the same position (eg,
while supporting the infant who is not crying in the
semiupright position)

Sutures
 The sagittal and coronal sutures are palpated for ridging
(craniosynostosis) or separation (raised intracranial
pressure).
 Patients with raised intracranial pressure may show frontal
bossing, palpable separation of sutures, tense or bulging
anterior fontanel, and prominent veins over the scalp.

PHILEMON CHIZORORO 12
  Premature closure of the sagittal suture may confer an
elongated appearance of the skull in the anteroposterior
plane with side-to-side flattening (dolichocephaly).
 Premature closure of the coronal suture may lead to
brachycephaly, with shortening of the skull in the
anteroposterior plane.
Plagiocephaly or asymmetric flattening of the skull occurs when
there is premature closure of one of the lambdoidal sutures

HEIGHT

WEIGHT

NEUROCUTANEOUS LESIONS
 Tuberous sclerosis may be associated with hypopigmented
patches, angiofibromas over the cheek (adenoma
sebaceum), shagreen patches over the lumbar region
(raised skin lesions with an irregular surface), and a brown
fibrous plaque on the forehead.

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 Neurofibromatosis type 1 is associated with six or more
café-au-lait spots (>5 mm in a prepubertal child and >15 mm
in a postpubertal child), neurofibromas (soft, sessile
nodules), and axillary or inguinal freckles.

 A port wine birthmark over one-half of the face is

characteristic of Sturge-Weber syndrome. The lesion
invariably involves the ophthalmic region of distribution of the
trigeminal nerve. Many patients have an associated
intracranial (leptomeningeal) angioma, with hemiplegia and
focal epilepsy.

 Petechial hemorrhages, which confer a "blueberry muffin"

appearance to the skin, may be seen in neonates with
congenital cytomegalovirus infections.

 A macular rash (located over the malar region of the face) is

characteristic of systemic lupus erythematosus, whereas
drug hypersensitivity reactions tend to have a rash with a
generalized distribution.

 Erythema migrans is a reddish, target-shaped lesion that is

characteristic of Lyme disease.
 Vitiligo may be associated with autoimmune disturbances
such as myasthenia gravis.
 Lax or redundant skin may accompany Coffin-Lowry,
Costello, and Ehlers-Danlos syndromes.

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  Angiokeratomas, which are collections of small, reddish
bumps, are seen in Fabry disease, which is a lysosomal
disease due to absence of alpha galactosidase A.

CRANIAL NERVES
Cranial nerves — Each cranial nerve (CN) is tested by
performance of a specific motor or sensory test. Testing in infants
is often by observation for specific movements and responses
and is less reliable. Multiple observation sessions may be helpful.

I (olfactory)

 The sense of smell, mediated by CN I, can be tested by

ability to detect alcohol or peppermint.
 This sense may be impaired after closed head injury and in
infants with arhinencephaly-holoprosencephaly.

II (optic)

The function of CN II is assessed by the following tests of visual

function:

Testing visual acuity

 In an infant, visual acuity can be tested by observing the

infant reach for objects of varying size.
 Infants older than six months of age will usually reach for
scraps of paper less than 5 mm in size when they are placed
on a dark background.

PHILEMON CHIZORORO 15
  Standard tests can be used in older children who can
recognize objects, letters, or numbers.
 The narrow, alternating black and white stripes painted onto
a rotating drum should elicit optokinetic nystagmus (OKN),
with quick jerks of the eyes in a direction opposite to the
movement of the drum or tape.

Visual fields

 Visual fields can be tested by introducing objects into the

peripheral field of vision as the child focuses on an object
held directly in front of them.
 The lateral and superior fields of vision can be assessed
more easily than can the nasal fields.

Pupillary light response (direct and consensual)

 A normal pupillary light reflex requires CN II for afferent
impulses and III for efferent impulses.
 An asymmetric, constricted pupil in association with ptosis,
enophthalmos, and anhidrosis is seen with ipsilateral Horner
syndrome as a result of sympathetic denervation of the pupil.
Funduscopy
 Funduscopy of children requires patience and is best
accomplished in a dimly lit room with the patient gazing
straight ahead.
 The parent or caretaker can be requested to keep a bright
object in the hand, upon which the child is asked to focus.
 The ability of the clinician to obtain an adequate funduscopic
examination is often compromised by lack of patient

PHILEMON CHIZORORO 16
 cooperation, nystagmus, or small pupils. In this case,
consultation should be sought with an ophthalmologist.

III (oculomotor), IV (trochlear), and VI (abducens)

 CN III, IV, and VI are required for extraocular movements in

the horizontal, vertical, and oblique planes and can be tested
by assessing the child's ability to track a brightly colored toy
or soft light.
 The corneal light reflex is a helpful test to determine eye
alignment (strabismus or esotropia). When a light source is
held directly in front of a patient who is staring straight
ahead, normal eye alignment will reveal a symmetric reflex
in the center of each pupil
 Paralysis of extraocular muscles leads to eye deviation at
rest in the following patterns:
o Deviation down and out – Paralysis of the inferior
oblique muscle (CN III)
o Deviation laterally – Paralysis of the medial rectus (CN
III)
o Deviation upwards – Paralysis of the inferior rectus (CN
III)
o Deviation down and inwards – Paralysis of the superior
rectus (CN III)
o Deviation upwards and out – Paralysis of the superior
oblique (CN IV)

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 o Deviation inwards – Paralysis of the lateral rectus (CN
VI)
 Ptosis (drooping of the upper eyelid and encroachment on
the pupillary aperture) may accompany sympathetic
paralysis from lesions of the CN III, Horner syndrome,
myopathies, myasthenia gravis, and eye structural lesions
(eg, neurofibroma).
 OKN is a normal gaze-stabilizing response elicited by
tracking a moving stimulus across the visual field and can be
helpful as a crude assessment of the visual system.
 Assessment of OKN can be performed using an OKN drum
or a piece of paper or cloth with alternating black (or red)
and white stripes that is rapidly moved across the patient's
visual field at reading distance.
 As the stimulus is moved from left to right, normally sighted
patients will show quick, jerky movements to the left side and
vice versa.
 Alternatively, a mirror placed in front of the patient's eyes
can be tilted in different directions to elicit ocular pursuit
movements. OKN is dependent upon the integrity of the
visual system, especially visual perception, and pursuit and
saccadic eye movement.
 Bilateral absence of OKN in infancy or early childhood may
suggest blindness, while unilateral absence may suggest a
hemispheric lesion.
 Normal OKN in an individual with a complaint of vision loss
suggests hysterical blindness.
 Abnormal eye movements may be manifestations of an
underlying disease or disorder:

PHILEMON CHIZORORO 18
 o Opsoclonus is characterized by sudden chaotic bursts
of eye movements in the horizontal, vertical, oblique, or
rotatory positions, often associated with myoclonus. It is
a paraneoplastic manifestation of neuroblastoma and
has also been described in other settings.
o Upgaze paresis may accompany Parinaud syndrome
owing to pressure on the pretectal region from a mass
lesion. Impaired downgaze may be seen in children
with Niemann-Pick type C disease and can lead to
difficulty going down steps.
o Oculomotor apraxia is characterized by a delayed
initiation of the eye movement and jerky pursuit
movements that are accompanied by compensatory
head thrusting. It may accompany Joubert syndrome or
ataxia with oculomotor apraxia syndrome.
V (trigeminal)

 The sensory function of CN V can be tested by the response

to light touch over the face (use a tissue) and by sensation
on the cornea and conjunctiva
 Motor function of CN V is tested by assessing masseter
muscle strength (asking the child to clench their jaw while
palpating for muscle contraction).

VII (facial)

 The function of CN VII can be assessed by observing for

symmetry of the nasolabial folds, assessing eyelid muscle
strength, and assessing the ability to wrinkle the forehead
symmetrically.

PHILEMON CHIZORORO 19
  In addition, CN VII mediates taste sensation over the
anterior two-thirds of the tongue and can be tested by
applying two or three drops of a concentrated salt solution to
the lateral edge of each one-half of the tongue using a cotton
applicator, while the tongue is kept protruded.
 With nuclear and infranuclear lesions of CN VII, both the
upper and lower one-halves of the face are paralyzed,
whereas with supranuclear lesions, only the lower one-half
of the face is affected.

VIII (vestibulocochlear)

 In infants, hearing is tested by making a soft sound close to

one ear, such as from rustling of paper.
 The infant should show an alerting response.
 By the age of five to six months, the infant may also be able
to localize the sound to a specific quadrant.
 The procedure is then repeated for the opposite ear. In
cooperative school-age children, speech discrimination can
be tested by softly whispering a number approximately one
foot from the ear. The traditional Rinne and Weber tests can
be used as well in older children.

Poor head control, truncal unsteadiness, gait ataxia, nausea,

vomiting, and horizontal nystagmus may indicate vestibular
system dysfunction.

IX (glossopharyngeal) and X (vagus)

 CN IX and CN X are responsible for swallowing function and

movement of the soft palate and are often tested by eliciting
a gag reflex.
PHILEMON CHIZORORO 20
  Salivary drooling or pooling of saliva also suggest
dysfunction. Hoarseness of the voice can be caused by CN
X dysfunction.

XI (spinal accessory)

 CN XI mediates motor function in the trapezius or

sternomastoids; its function is usually assessed by elevation
of the shoulders and turning of the neck against resistance.
 The pattern of weakness caused by CN IX dysfunction
depends on whether the lesion is peripheral or central.

XII (hypoglossal)

 Function of CN XII in a child or adolescent is tested by

asking the patient to stick out their tongue; normally, the
tongue should remain in the midline.
 In patients with peripheral lesions of CN XII, the tongue
points towards the paretic side.
 CN XII dysfunction can also cause fasciculations (slow,
ripple-like movements) in the tongue and oromotor apraxia.
 Fasciculations are best observed with the mouth open and
with the tongue kept immobile within the mouth.

MOTOR SYSTEM
Posture and involuntary movements — Abnormalities are
suggested by the following observations:

 Asymmetry at rest in infants (may suggest hemiparesis).

PHILEMON CHIZORORO 21
 Opisthotonus (ie, persistent arching of the neck and trunk
due to bilateral cerebral cortical dysfunction).
 Abducted hips or "frog-legged" posture that accompanies
hypotonia. Fisting of the hand or holding the thumb adducted
across the palm during quiet wakefulness (suggests
corticospinal tract involvement). However, closure of the
hand during sleep is normal.
 Tremor (rhythmic, fine-amplitude flexion-extension
movements of the distal extremity).
 Myoclonus (quick, nonstereotyped jerks around a segment
of the body).
 Athetosis (slow, sinuous movement of the distal extremity
with pronation of the distal extremity, generally due to a
contralateral putaminal lesion).
 Chorea (rapid, quasi-purposive, nonstereotyped movements
of a segment of the body that is generally proximal).
 Tics (highly stereotyped and repetitive movements).
 Muscle atrophy, pseudohypertrophy (bulky appearance of
muscles due to fat accumulation, with associated muscle
fiber atrophy and weakness) is commonly seen in muscular
dystrophies such as Duchenne. Fasciculations (ripple-like
movements of the muscles that accompany degeneration of
anterior horn cells) are commonly seen in motor neuron
diseases.
 Stereotyped hand-wringing movements and bruxism (teeth
grinding) may be seen in Rett syndrome.
 Stereotypies are repetitive movements and/or sounds.
These may include simple movements, such as body-
rocking or head-nodding, or more complex movements, such

PHILEMON CHIZORORO 22
 as hand-flapping or pacing; these may be more common in
children with autism spectrum disorder.

TONE AND STRENGTH

 Muscle tone is the resistance felt upon passive movement of
a part of the body.
 In the extremities, it is assessed by placing a joint through its
full range of movement.
 Hypotonia is characterized by decreased resistance to
passive movement and hyperextension at the joints.
 Increased tone that is spastic in nature (abnormal
lengthening-shortening reaction to stretch that has the feel of
a "clasp knife") tends to accompany pyramidal tract lesions.
 Increased tone that is characterized by muscle rigidity (has a
"lead pipe" or "cog wheel" feel during the range of motion)
suggests extrapyramidal lesions.
 Paratonia (also known as gegenhalten) is a form of
hypertonia that is characterized by the involuntary resistance
to passive movement.
 Although it is more often elicited in older adults with
dementia, it also occur in children with developmental
disabilities, dyspraxia, and learning disabilities and may be
incorrectly attributed to the child not complying with the
examination.
 Weakness is elicited by asking the patient to move a part of
the body against resistance (gravity or gravity plus
resistance imposed by the examiner).
 The degree of weakness is graded in a five-point scale:

PHILEMON CHIZORORO 23
 o Grade 0/5 – No muscle movement at all
o Grade 1/5 – Presence of a flicker of movement
o Grade 2/5 – Movement with gravity eliminated (eg,
across the bedsheet)
o Grade 3/5 – Movement against gravity
o Grade 4/5 – Movement against gravity and some
externally applied resistance
o Grade 5/5 – Movement against gravity and good
external resistance (normal)
 Distal weakness (symmetric or asymmetric) generally
accompanies peripheral neuropathy, while proximal muscle
weakness (generally symmetric) is seen in myopathies.
 Hereditary neuropathies such as Charcot-Marie-Tooth
disease are associated with prominent, high arches in the
feet due to atrophy of the plantar muscles.
 Patients with proximal (hip extensor) muscle weakness may
exhibit a Gower's sign (ie, they will prop their hands against
the floor or their legs for support when getting up from a
sitting position on the floor).
 Assessment for the pronator drift is a useful method of
detecting upper motor neuron weakness.
 Initially, the child is asked to extend the upper extremities
with palms down. The child is then asked to close the eyes
and rotate the extended arms so that the palms are facing
upwards. During this turning maneuver with the eyes closed,
a patient with upper motor neuron weakness may pull the
elbow down and in. If there is an upward and outward drift in
the response, a contralateral parietal lesion or a cerebellar
process could be responsible.

PHILEMON CHIZORORO 24
COORDINATION
 Patients with cerebellar dysfunction have difficulty in
regulating the rate and range of muscle contraction (known
as dysmetria), which may manifest as nystagmus, intention
tremor, scanning speech, truncal or gait ataxia, or rebound
phenomenon.
 To test for rebound phenomenon, the patient flexes the arm
against resistance offered by the examiner, then the
examiner abruptly releases the resistance.
 In rebound phenomenon, the patient is unable to stop the
muscle contraction.
 Dysmetria can be assessed with the finger-to-nose test:
When seated with the elbows fully extended and the arms in
a horizontal plane, the patient is asked to touch the index
finger to the nose and then return to the starting position.
 In a young child, use of a toy to reach for may be a helpful
surrogate.
 Cerebellar deficits will impair performance on this test.

SENSORY SYSTEM
 A sensory examination in young children is often imprecise,
and only gross deficits can be detected. Information obtained
from sensory testing in a child below five to six years of age
can be unreliable and may need confirmation during a
second examination session.

TENDON REFLEXES

PHILEMON CHIZORORO 25
  The jaw, biceps, triceps, brachioradialis, patellar, and ankle
are commonly tested tendon reflexes, and all of these can
usually be tested in infants and children.
 The joint under consideration should be at approximately 90°
and fully relaxed.
 In patients with cerebral palsy, exhortations to "relax" may
paradoxically increase contraction of the muscles and should
thus be avoided. Instead, the patient should be put at ease
during reflex testing with conversation.
 To elicit the reflex, let the head of the reflex hammer drop
onto the tendon at the following locations:
o Jaw – With the mouth held partially open and
examiner's finger placed over the chin, the finger is
lightly tapped with a reflex hammer to displace the
mandible downwards. This elicits contraction of the
mandible and slight closure of the mouth.
o Biceps – Just anterior to the elbow.
o Triceps – Just posterior to the elbow.
o Brachioradialis – Just above the wrist, on the radial
aspect of the forearm.
o Knee (patellar) – Just below the patella.
o Ankle (Achilles) – Just behind the ankle.

The elicitation of tendon reflexes provides information about

multiple aspects of the nervous system. The findings can be
interpreted as follows:

 Absent or diminished tendon reflexes – This generally

indicates interruption of the muscle stretch reflex arc at the

PHILEMON CHIZORORO 26
 level. Since the afferent impulses generated after tapping a
tendon with reflex hammer are carried via large-diameter
fibers, the absence of a tendon reflex could also signify
involvement of large-diameter sensory fibers in a peripheral
nerve.

 Exaggerated tendon reflexes – This generally indicates

disinhibition of the motor units, owing to a pyramidal tract
lesion. When the patellar reflex (knee jerk) is elicited, an
exaggerated (ie, abnormal) response includes spread to the
opposite side in the form of a crossed adductor response
(contraction of the contralateral hip muscle) or ipsilateral
contraction of the plantar, flexures of the foot. Similarly,
clonus (rhythmic muscle contractions elicited by the
stimulus) is exaggerated and abnormal.

 Asymmetric tendon reflexes – This may indicate a cerebral

hemispheric lesion. Asymmetry is most easily detected with
a gentle stimulus.

 Differences between tendon reflexes in the upper and lower

body – This may suggest a spinal cord lesion. As an
example, the jaw jerk is the only tendon reflex that is
mediated above the plane of the foramen magnum; thus, if
the jaw jerk is of normal amplitude but the biceps and other
tendon reflexes are exaggerated, this might be a clue to a
craniovertebral junction lesion.

PHILEMON CHIZORORO 27
DEVELOPMENTAL REFLEXES
 Developmental reflexes (also known as primitive reflexes)
appear at a certain time during the course of brain
development and normally disappear with progressive
maturation of cortical inhibitory functions.
 They are mediated at subcortical levels. Assessment of
developmental reflexes is important in the newborn period
and during infancy.
 Developmental reflexes are abnormal if:
o They are absent at an age when they should normally
be present
o They are asymmetric, suggesting unilateral weakness
o They persist beyond a time they should have normally
resolved, as this suggests impaired maturation of
descending cortical inhibitory projections
 The persistence of primitive reflexes such as the asymmetric
tonic neck reflex and Galant reflex after age five months is
an early clue to the development of cerebral palsy

SUPERFICIAL REFLEXES
Superficial reflexes can be elicited by light stimulation of the
plantar, conjunctival, abdominal, and cremaster areas.

 The plantar reflex (S1) is elicited by stroking the plantar

surface of the foot using a pointed but not sharp object (eg,
the metal end of a reflex hammer). The stroke is from a
lateral to medial direction, posterior to anterior, stopping
short at the base of the great toes. The normal response is
one flexion of all toes. Patients with corticospinal tract

PHILEMON CHIZORORO 28
 lesions manifest an extensor plantar response (Babinski
sign), which is characterized by extension of the great toe
and fanning of other toes.
 For the conjunctival reflex, gently touching a wisp of cotton
or tissue to the surface of the conjunctiva will elicit an eye
blink. The afferent loop of the reflex is via CN V, while the
efferent loop is through the facial (VII) nerve.
 The superficial abdominal reflexes are elicited in the right
and left upper abdominal quadrants (T8, 9) and also in the
left and right lower abdominal quadrants (T11, 12). Stroking
of a blunt metal object (eg, the metal end of a reflex
hammer) in these quadrants in a medial to lateral direction
elicits contraction of the abdominal muscles. Abdominal
reflexes may be lost in the case of a pyramidal tract lesion.
 The cremasteric reflex (L1-2) is elicited by stroking the
medial aspect of the upper thigh, which elicits contraction of
the cremaster muscle and elevation of the testis.
GAIT
 The gait is best assessed by observing the patient walk
barefooted down a long corridor with the legs and feet
exposed.
 Abnormalities can be brought out by having the patient walk
and run.
o Circumduction of a lower extremity may indicate
spasticity and is commonly observed in hemiparesis
o A broad-based, ataxic gait may accompany a cerebellar
disorder
o A high-steppage gait suggests peripheral neuropathy

PHILEMON CHIZORORO 29
 o Patients with dystonia frequently show normal posture
of the feet at rest but turn their feet inwards and walk on
the outer edges of the feet
o Myopathies, such as Duchenne muscular dystrophy,
may be associated with a waddling gait

SPINE
 The spine should be examined along its entire length for
findings that might suggest an underlying congenital spinal
cord anomaly, such as tethered cord syndrome or spina
bifida occulta (eg, a midline tuft of hair, dermal sinus tract, or
lipoma).
 Gross lesions (eg, meningocele and myelomeningocele) will
of course be readily visualized.
 Patients with muscular dystrophy may display lumbar
lordosis.
 Kyphoscoliosis may accompany degenerative disorders,
such as Friedreich ataxia and muscular dystrophies.
 Localized point tenderness over the spine may suggest
underlying intervertebral disc herniation, inflammation,
fracture, or neoplastic process.
 The range of motion of the spine should be evaluated at all
levels when indicated.

OTHER SYSTEMS

LYMPHADENOPATHY

PHILEMON CHIZORORO 30
  Subacute and chronic inflammatory or neoplastic disorders
(eg, toxoplasmosis, tuberculosis, infectious mononucleosis,
and lymphoma) may be associated with enlargement of
lymph nodes over multiple regions of the body.
 In some of these disorders, there may be nonspecific
neurologic symptoms such as lethargy or confusion.

HEPATOSPLENOMEGALY
o Enlargement of the spleen and liver may be seen with
the aforementioned infectious disorders. Lysosomal
diseases, such as mucopolysaccharidoses and
generalized GM1 gangliosidosis, and Niemann-Pick
disease can also lead to hepatosplenomegaly.

ABNORMAL HAIR
 The following disorders have both neurologic manifestations
and abnormalities of hair.
o Brittle hair is common in argininosuccinic aciduria.
o The hair in Menkes disease is brittle, sparse, and
tortuous. A simple clue to the diagnosis is examining
hair under low power of a light microscope. Alopecia is
common in rhizomelic chondrodysplasia punctata and
in Rubinstein-Taybi syndrome.
o Hirsutism and synophrys (joined eyebrows) are
common in Cornelia de Lange syndrome.
o A white forelock of hair may accompany the
Waardenburg syndrome (heterochromia of the iris,
bright blue eyes, broad and prominent nasal root,
midface hypoplasia, and congenital sensorineural
deafness)
PHILEMON CHIZORORO 31
ABNORMAL BREATH
 The area from which abnormal smells are most easily
detected is the nape of the neck or the scalp.
 Infants with phenylketonuria may manifest a mousy odor.
 Those with isovaleric aciduria may have an odor of sweaty
feet.

EXTERNAL GENITALIA
o Hypogonadism with small testicles or undescended
testicles and small penile size is common in Prader-
Willi syndrome (obesity, hypogonadism, hyperphagia,
and intellectual disability).
o Ambiguous genitalia may accompany X-linked
lissencephaly and the syndrome of infantile spasms in
association with hydranencephaly/lissencephaly and
agenesis of the corpus callosum due to mutations in the
aristaless-related homeobox (ARX) gene.
o Macro-orchidism is common in fragile X syndrome.
o Patients with X-linked adrenoleukodystrophy may
manifest hyperpigmentation initially over the external
genitalia.

CARDIOVASCULAR SYSTEM
o High-output cardiac failure is common in newborns and
infants with vein of Galen malformations.

PHILEMON CHIZORORO 32
 o A floppy and weak infant with cardiomegaly and poor
cardiac contractility may have Pompe disease (acid
maltase deficiency or type II glycogen storage disease).
o Duchenne and Becker muscular dystrophies are
associated with cardiomyopathy.
o Patients with Friedreich ataxia frequently manifest
hypertrophic subaortic cardiomyopathy as well as
progressive ataxia and diabetes mellitus.
o Patients with Barth syndrome have congenital dilated
cardiomyopathy as well as skeletal myopathy and
neutropenia.

OTOLARYNGOLOGY
 Macroglossia is often noted when the tongue protrudes from
between the teeth.
 Macroglossia is a characteristic of Beckwith-Wiedemann
syndrome and some forms of mucopolysaccharidosis (eg,
Hurler syndrome) and can also be seen in some patients
with untreated hypothyroidism.
 Patients with macroglossia often have obstructive sleep
apnea

SUMMARY 2

DIFFERENTIALS 2

PROBLEM LIST 2

MANAGEMENT

PHILEMON CHIZORORO 33
 ABC
 Definitive
 MDT

PHILEMON CHIZORORO 34