Transcript Cerebral Palsy (rule in)

Case of Patrick
History
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Born at 43 weeks AOG
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3 days old
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Limp, cyanotic, meconium-stained
Intubated and admitted to the ICU – Pneumonia
Cough and difficulty in breathing
Pneumonia 3 months old
3 months old
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Poor head control
Closed anterior fontanel, microcephaly
History
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Delays in development
Persistence of head lag, absence of regard
 Episodes of jerking and stiffening of
extremities
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Milestones
Vocalize at 1 year
 Smile spontenously at 1 year and 2 mos
 Listen to sound at 1 year and 3 mos
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History
Epilepsy – 1.5 years
 Other medical problems:
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Respiratory infections
 Dyshidrotic eczema
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Nutritional History
Breastfed til 3 mos
 Regurgitation of milk
 Cereal at 6 months
 Currently on Bonamil mixed with rice water
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Physical Examination
Awake, carried by mother, not in
cardiorespiratory distress
 HR 120, RR 40, afebrile
 7.7 kg weight, 73 cm height
 Moderate wasting
 Moderate stunting
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Physical Examination
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Closed fontanels
Flattened occiput
Ankyloglossia
Thick mucoid nasal secretions
Occasional retractions
Rhonchi on both lung fields
Discrete maculopapular erythematous lesions
on trunk, hands and lower extremities
Neurologic Examination
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Sensorium: hyperalert, smiles spontaneously
but does not regard
Cranial nerves: no dazzle, no visual tracking,
doll’s eye
Motor: spastic on all 4 extremities, with flexion
contractures, spontaneous non-purposeful
movement of all extremeties
Reflexes: (+) bilateral Babinski, asymmetric
tonic neck reflex, moro reflex
Meningeals: (+) resistance to neck flexion
Present Profile
Gross Motor No head control
Newborn
Fine Motor
No visual tracking
Newborn
Receptive
Language
Expressive
Language
Social/
Adaptive
Quietens to sound &
voice
Vocalizes
2 months
2 months
Smiles spontaneously 1 month
but does not regard
Differential Diagnosis
Cerebral Palsy (rule in)
Of the presence of RISK FACTORS:
(+) postmaturity (43 wks AOG) (+) difficult
delivery resulting to asphyxia
(+) the child was born limp, cyanotic, and
meconium-stained
Cerebral Palsy (rule in)
Of the presence of the following MOTOR
SYMPTOMS:
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(+) repeated bouts of pneumonia, probably
due to aspiration secondary to weak
swallowing
(+) regurgitation is often noted, which may
be due poor swallowing
(+) poor head control and marked head lag
(+) jerking and stiffening of extremities
especially in times of agitation
Cerebral Palsy (rule in)
Of the presence of the following MOTOR
SYMPTOMS:
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(+) stiffness of extremities
(+) spastic on all 4 extremities with flexion
contractures
(+) spontaneous non-purposeful
movements of all extremities
(+) no visual tracking
Cerebral Palsy (rule in)
Of the presence of the following MOTOR
SYMPTOMS:
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(+) deep tendon reflexes +3
(+) bilateral babinski
(+) asymmetric tonic neck reflex
(+) moro reflex
Cerebral Palsy (rule in)
Of the presence of the following
COGNITIVE SYMPTOMS AND OTHER
DEVELOPMENTAL DELAYS
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(+) absence of regard
(+) only began to vocalize at year 1
(+) only smiled spontaneously at age 1 year
& 2 months
(+) failure to thrive
Cerebral Palsy (rule out)
Cannot be ruled out without certain tests.
Down’s Syndrome
Rule in
DEVELOPMENTAL DELAY
• (+) Microcephaly
• Short stature
• Previous diagnosis of
epilepsy
• Tonic-clonic seizures
(jerking and stiffening of
extremities)
• Repeated bouts of
pneumonia and other
respiratory infections
Rule out
 Absence of associated
abnormalities and
characteristic facial
features.
 Patient’s with Down’s
syndrome usually
present with poor
muscle tone and
hyperextensible joints
Infantile Multiple Sclerosis
Rule in
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(+) poor head control and marked
head lag
(+) no visual tracking
(+) primitive reflexes
(+) absence of regard
(+) only began to vocalize at 1 yr
(+) only smiled spontaneously at
age 1 year & 2 months
(+) Spasticity and spontaneous
non-purposeful movement of all 4
extremities
(+) Hyperactive reflexes
Rule out
 Charles’ disease is static
 MS requires
documentation of two
distinct episodes which
must last at least 24
hours and be separated
by at least one month.
No such episodes were
reported in Charles’
case.
Muscular Dystrophies
Rule in
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(+) poor head control
(+) intellectual impairment
manifested as delays in language
and social development
(+) frequent pulmonary infections
due to weak respiratory muscles
(+) aspiration pneumonia and
regurgitation indicative of
pharyngeal muscle weakness
(+) flexion contractures on all four
extremities
Rule out
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Duchenne patients are rarely
hypotonic at birth but Charles
was born limp.
development of early gross
motor skills in Duchenne’s or
Becker’s patients are
achieved at the appropriate
ages or may be mildly
delayed.
Duchenne’s/Becker’s patients
can walk at 1 year
There is no evidence of
cardiomyopathy in Charles
Muscle spasms do not occur
in these muscle dystrophies
Congenital Muscular Dystrophy
Rule in
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(+) presence of
contractures
(+) hypotonia at birth
(+) poor head control
(+) microcephaly
Rule out
 Pharyngeal weakness is
uncommon for this
illness
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Deep tendon reflexes
are hypoactive or absent
in this condition
Congenital Malformation
Rule in
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Malformations at the
base of the skull may
explain symptoms of
quadriplegia and
involvement of eye
movement pathways.
Rule out
 Episodes of jerking and
stiffening of extremities;
onset of symptoms at 3
months of age
Spinal Cord
Rule in
Rule out
 Transection of the cord  May be ruled out
secondary to spinal cord because patient is
responsive to pain,
traction injury during
therefore there is no
childbirth
sensory deficit
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Pt was delivered with
mother’s contractions
not being sufficient. A
possible result of
difficult childbirth
Spinal muscular atrophy type II- Chronic
infantile form
Rule in
Rule out
 Our patient manifested the
 Pseudohypertrophy of
signs and symptoms within
the gastrocnemius
the age range of this
muscle, and
disorder, which is prevalent
musculoskeletal
among infants 6-18 months
deformities can occur,
of age.
which the patient does
 Developmental motor delay
not have.
is most obvious.
 Postural finger tremors
 Respiratory infections are
are absent in this
very common in patients
patient.
with SMA type II.
Metabolic Disorder: Phenylketonuria
Rule in
 Vomiting, nonpurposeful movements,
microcephaly,
eczematous rash,
hypertonic, growth
retardation
Rule out
 No mention of mousy
odor; no family history of
similar symptoms;
cannot explain recurrent
pulmonary infections
Metabolic Disorder: Tyrosine Hydroxylase
Deficiency (Infantile Parkinsonism)
Rule in
 Jerky movements of the
limbs, spasticity, rigidity
Rule out
 Not tremors; cannot
explain recurrent
pulmonary infections,
microcephaly and poor
head control; no family
history of similar
symptoms
Metabolic Disorder: Biotinidase
deficiency
Rule in
 Immunodeficiency
(recurrent pulmonary
infections), dermatitis
(dyshidrotic eczema),
developmental delay,
poor head control,
myoclonic seizure
Rule out
 Spasticity; cannot
explain microcephaly; no
family history of similar
symptoms
Metabolic Disorder: Creatinine
deficiency
Rule in
 Developmental delay,
absence of active
speech, hypertonia with
dyskinetic movements.
Rule out
 Growth retardation;
cannot explain recurrent
pulmonary infections,
microcephaly and poor
head control; no family
history of similar
symptoms
Metabolic Disorder: Homocystinuria due to
Methylenetetrahydrofolate Reductase (MTHFR)
deficiency
Rule in
 Spasticity, microcephaly,
developmental delay
Rule out
 No convulsions; cannot
explain recurrent
pulmonary infections,
and poor head control;
no family history of
similar symptoms
Primary Working Impression
Cerebral Palsy
Types of Cerebral Palsy:
The three types of CP are:
 spastic cerebral palsy — causes
stiffness and movement difficulties
 athetoid cerebral palsy — leads to
involuntary and uncontrolled movements
 ataxic cerebral palsy — causes a
disturbed sense of balance and depth
perception
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Clinical syndromes of congenital spastic
motor disorders
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The most frequent motor disorder evolving from the
four major neonatal cerebral disease is spastic
diplegia, i.e. a motor disturbance that is severe in
the lower limbs and mild in the upper
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A second form of motor disorder is characterized by
the development of severe spastic quadriplegia and
mental retardation.
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A third group is characterized mainly by
extrapyramidal abnormalities, combining athetosis,
dystonia and ataxia in various proportions
Cerebral Palsy
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The broad clinical term cerebral palsy refers to a
nonprogressive neurologic motor deficit
characterized by combinations of spasticity,
dystonia, ataxia/athetosis, and paresis
attributable to insults occurring during the
prenatal and perinatal periods. Signs and
symptoms may not be apparent at birth and only
later declare themselves, as development
proceeds. Postmortem examinations of children
with this syndrome have shown a wide range of
neuropathologic findings, including destructive
lesions traced to remote events that may have
caused hemorrhage and infarction.
Cerebral Palsy
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The clinical presentation of CP may result from an
underlying structural abnormality of the brain; early
prenatal, perinatal, or postnatal injury due to vascular
insufficiency; toxins or infections; or the pathophysiologic
risks of prematurity
 In most cases, the exact cause is unknown but is most
likely multifactorial
 Risk factors: maternal infections, prematurity, birth injuries,
SGA, chorioamnionitis, polyhydramnios, bleeding in the
third trimester, birth asphyxia (determined as the
determined cause in around 10% of CP cases)
 However, even when birth asphyxia is thought to be
associated clearly with CP, abnormal prenatal factors (eg,
intrauterine growth retardation, congenital brain
malformations) may have contributed to perinatal fetal
distress.
Pathophysiology
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Cerebral palsy is caused by an insult to
the immature brain. It could be due to
intracerebral hemorrhage or
periventricular leukomalacia which
causes damage in the descending tracts.
Pathophysiology
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Brain injury occurring in the perinatal
period is an important cause of childhood
neurologic disability. Injuries that occur
early in gestation may destroy brain
tissue without evoking the usual
"reactive" changes in the parenchyma
and may be difficult to distinguish from
malformations.
Pathophysiology
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While in certain cases there is no
identifiable cause, other etiologies
include problems in intrauterine
development (e.g. exposure to radiation,
infection), asphyxia before birth, hypoxia
of the brain, and birth trauma during
labor and delivery, and complications in
the perinatal period or during childhood.
Pathophysiology
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in perinatal ischemic lesions of the cerebral
cortex, the depths of sulci bear the brunt of
injury and result in thinned-out, gliotic gyri
(ulegyria). The basal ganglia and thalamus
may also suffer ischemic injury, with patchy
neuronal loss and reactive gliosis. Later,
aberrant and irregular myelinization gives
rise to a marble-like appearance of the
deep nuclei: status marmoratus. Because
the lesions are in the caudate, putamen,
and thalamus, choreoathetosis and related
movement disorders are common clinical
sequelae.
Cerebral Palsy and AOG
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In premature infants there is an
increased risk of intraparenchymal
hemorrhage within the germinal matrix,
often near the junction between the
thalamus and the caudate nucleus.
Hemorrhages may remain localized or
extend into the ventricular system and
thence to the subarachnoid space,
sometimes leading to hydrocephalus.
Cerebral Palsy and AOG
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Infarcts may occur in the supratentorial
periventricular white matter (periventricular
leukomalacia), especially in premature
infants. These are chalky yellow plaques
consisting of discrete regions of white
matter necrosis and calcification. When
both gray and white matter are involved by
extensive ischemic damage, large
destructive cystic lesions develop
throughout the hemispheres; this condition
is termed multicystic encephalopathy.
Management
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Therapy is usually for the secondary complications of
this disorder. Presently, there is no proven effective
treatment for the primary the primary brain disorders
responsible for cerebral palsy.
Thus, the goals for therapy are:
1. maximize functional use of limbs and ambulation
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intensive physical and occupational therapy – for for
stretching, strengthening, and facilitating good movement
patterns
recreational therapy
braces, splinits, motorized wheelchairs
Management
2. spasticity management
 Pharmacotherapy
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baclofen - to control muscle contractions and relax
tight muscles
diazepam (benzodiazepines) - acute management
of seizures
dantolene - diminish spasticity
botulinum toxin - to decrease their uneven pull at
joints and to prevent fixed contractures
Management
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Surgery
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Orthopedic surgery (eg, muscle-tendon release)
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may help reduce restricted joint motion or misalignment
Selective dorsal rhizotomy (SDR)
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procedure in which a proportion of dorsal rootlets of the
lumbosacral plexus are cut in order to interrupt the afferent
reflex arc from muscle spindles to the spinal cord where
they stimulate muscle contraction (which is the cause of
spasticity)
Management
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Intrathecal baclofen infusion
pump is implanted in the lower abdomen in a
pouch
 a catheter is tunneled subcutaneously to the
spine where it is inserted into the subarachnoid
space
 the pump contains a reservoir where baclofen is
stored
 a computer chip is also there programmed to set
the infusion rate and pattern and to calculate
baclofen reservoir
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Management
3. learning, speech, hearing and social
and emotional development
patient can still attend school, provided that
the intellectual and physical limitations are
not that severe
 speech training
 training for activities of daily living
 psychotherapy
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Prognosis
Difficult to make a prognosis early on in
the child’s life
 Usually not accurate in a young infant
 Only after around the age of two –
determine the type of cerebral palsy
(hemiplegia, diplegia, quadriplegia)
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Prognosis
More difficult to make early predictions of
speaking or mental ability than it is to
predict motor function - evaluation is
much more reliable after age 2
 Motor disability can make the evaluation
of intellectual function quite difficult
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Prognosis
Depends upon the type of cerebral palsy
 Depends on child’s physical and mental
ability
 Extent of problem and symptoms may
come light over time as the child
continues to grow – contributes to the
difficulty associated with making an
accurate prognosis early on in the child’s
life
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Prognosis
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CP is not a degenerative disorder – will not
worsen over time
Extent of injuries or behavioral problems can be
seen as soon as the child is born
As a child grows, things may become more
obvious
Issues with paying attention and learning
Some spasms and posture problems can
progress into scoliosis.
Prognosis gets better if the disorder isn't as
severe, or if it is caught early so treatments can
begin.
Prognosis
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NOT TREATABLE
 BUT! Cerebral palsy patients can live fairly
long lives.
 Most extreme cases, the life expectancy
ranges from 30 to 40. In the average case,
expectancy ranges from 60 to 70.
 Every individual case, however, is different.
 Proper support, therapy and management
plan are needed.