Transcript Clinical Presentation

Case 4
Group 4
General Data
• Patrick, 2 year old male
• From Cavite
General
Data
• Referred from General
Pediatrics Clinic for
developmental delay
History
• Born at 43 weeks AOG via SVD
(spontaneous vaginal delivery)
• 29-year old mother G1P1
(1001)
history
• Lying-in clinic in Cavite
• Regular prenatal checkups
• At the health center
• 3 prenatal UTZ: all normal
• (+) excessive vomiting (3rd &
4th months)
• (-) history of fever, bleeding,
hypertension
• Inadequate contractions during
labor
history
• Born limp, cyanotic, meconiumstained  rushed to a tertiary
hospital
• At the tertiary hospital:
• Intubated, admitted at ICU (for 2
weeks)
• Diagnosis: pneumonia
• Stayed for another 2 weeks
• After 3 days (1 month of age):
cough and difficulty of
breathing  brought to PGH
• PGH:
• Intubated for 2 days
• Treated for pneumonia
• After 7 days: discharged
history
• After 1 week (1.5 months of
age): readmitted for
pneumonia
• 3 months of age:
• Poor head control
• Closed anterior fontanel
• Microcephaly
• Subsequent months:
history
• Head lag
• Absence of regard
• Episode of jerking
• Stiffening of extremities (esp. when
agitated)
• Milestones
• 1 year: vocalization
• 14 months: Spontaneous smile
• 15 months: Appear to listen to sound
• 18 months: persistence of
stiffening diagnosed as epilepsy
• Respiratory infection: at least
once a month
• Dyshidrotic eczema: diagnosed
at 1 yr. of age
other
medical
problems
• (-) similar neurodevelopmental
illness
family
history
• (+) Asthma: mother and materal
aunt
• (+) HPN: maternal grandmother
• Father
personal
/social
history
• 29 years old
• Security guard
• High school graduate
• Mother
• 30 years old
• Housewife
• High school graduate
• Brother
• 8 years old
• Grade 3 student
• 0-3 months: breastfed
• Then gven Bonna at 1:2 dilution
• (+) regurgitation of milk
nutrition
history
• 6 months: given cereal 
thrusted out  ricewater (“am”)
+ milk instead
• Currently on Bonamil + am
• 6oz. Nine times/day
• Slightly thickened solution
• 0-3 months: breastfed
• Then gven Bonna at 1:2 dilution
• (+) regurgitation of milk
nutrition
history
• 6 months: given cereal 
thrusted out  ricewater (“am”)
+ milk instead
• Currently on Bonamil + am
• 6oz. Nine times/day
• Slightly thickened solution
Physical Exam
physical exam
PARAMETER
PATIENT VALUES
NORMAL VALUES
(1- 3 y.o.)
Respiratory Rate
40 breaths/min
20-30
Tachypneic
Temperature
Afebrile
Weight
7.7 Kg
(<5th percentile)
≈ 12 Kg
Moderate wasting
Height
73 cm
(<5th percentile)
≈ 92 cm
Moderate stunting
Head
circumference
35 cm
45-50 cm
microcephaly
INTERPRETATION
FINDINGS
Closed fontanelles
Flattened occiput
Ankyloglossia
physical
exam
(+) thick mucoid nasal
secretions
Equal chest expansion
Occasional retractions
(+) rhonchi on both lung
fields
Stiff extremities
Normal cardiovascular exam
Normal genitalia
(+) discrete macupapular
erythematous lesions
INTERPRETATION
Premature closure at 3
months
(Normal: 18 months)
Minimal head movement
due to poor head control
Toungue-tied – decreased
mobility and oromotor
dysfunction
Aspiration Pneumonia
because of oromotor
dysfunction
Hypertonic
Normal
Normal
Eczema?
Neurologic Exam
neurologic exam
Parameter
Sensorium
Pertinent Findings
Interpretation
Hyperalert
Smiles without regard
Delayed for age
Cranial Nerves
No dazzle (Shining a bright light into the
eye should cause squinting)
No visual tracking
(+) Doll’s eye ---oculocephalic reflex
No facial asymmetry
Motor
Spastic on all extremities
Flexion contractures
Spontaneous non-purposeful movements
on all extremities
Reflexes
DTR +++ : hyperreflexia (normal is ++)
(+) bilateral Babinski (may be normal)
Asymmetric tonic neck reflex
No clonus
Cortical blindness
Intact oculocephalic reflex
(As an individual turns their head
to the right, the eyes will deviate
left top stay focused on the same
target)
Spastic quadriplegia
UMN lesion
UMN lesion
Persistence of 1O reflex
neurologic exam
Domain
Patient’s Skill
Appropriate Age
Gross motor
No head control
3 months
Fine motor
No visual tracking
(following objects)
6 months
Receptive language
Quietens to sound
and voice
12 months
Expressive language
Vocalizes
2 months
Social/ Adaptive
Smiles spontaneously
1 month
Interpretation
Development is
delayed
Differentials
Cerebral Palsy
Rule in
– Risk factors present:
• Post-maturity (43 mos AOG and difficult delivery resulting to asphyxia
• Limp, cyanotic and meconium-stained upon delivery
– Motor symptoms present:
• Weak swallowing → aspiration/regurgitation → recurrent pneumonia
• Poor head control and lag
• Jerking and stiffening of extremities
• Spastic on all extremities with flexion contractures and non-purposeful
movements
• No visual tracking
• DTR +3
• (+) Bilateral Babinski, Asymmetric tonic neck reflex, Moro reflex
– Cognitive Symptoms and Developmental Delays present:
• Absence of regard
• Able to vocalize only at 1 year
• Smiled spontaneously only at 1 year and 2 months
• (+) failure to thrive
Down’s Syndrome
Rule in
– Features present:
• (+) microcephaly
• Short stature
• Previous diagnosis of
epilepsy
– Motor symptoms present:
• Tonic-clonic seizures
(Jerking and stiffening of
extremities)
• Repeated bouts of
pneumonia
Rule out
– Absence or associated
abnormalities and facial features:
upslanted eyes, puffy eyelids,
simian crease, small ears, flat nasal
bridge, cardiac problems
– Absence of poor muscle tone and
hyperextensible joints
Infantile Multiple Sclerosis
Rule in
Rule out
– Upper motor neuron weakness with Cannot be ruled out
associated pyramidal signs: spasticity,
hyperreflexia, (+) Babinski
– No visual tracking → optic neuritis
– Cognitive dysfunction
• Absence of regard
• Vocalize only at 1yr
• Spontaneous smile only at 1yr
and 2 mos
Infantile Parkinsonism
Rule in
– Motor features:
• Poor head control and lag
• Involuntary movements
– Non-motor features:
• Cognitive impairment
Rule out
• Absence of cardinal signs: rest
tremor, rigidity (hypotonic),
bradykinesia
Muscular Dystrophies
Differential
Rule in
Rule out
Duchenne and
Becker Muscular
Dystrophy
• Poor head control
• Intellectual impairment
• Weak respiratory
muscles → frequent
pulmonary infections
• Weak pharyngeal
muscles → aspiration
and pneumonia
• Flexion contractures
• Duchenne and Becker
patients are rarely
hypotonic at birth
• Duchenne and Becker
patients can walk at 1 year
• Muscle spasms do not occur
in Duchenne and Becker
• No evidence of
cardiomyopathy
Congenital Muscular
Dystrophy
• (+) presence of
contractures
• (+) hypotonia at birth
• (+) poor head control
• (+) microcephaly
• Pharyngeal weakness is
uncommon for this illness
• Deep tendon reflexes are
hypoactive or absent in this
condition
Congenital Malformations
Rule in
Rule out
• Malformations at the base of the skull • Episodes of jerking and stiffening of
may explain symptoms of
extremities; onset of symptoms at 3
quadriplegia and involvement of eye
months of age
movement pathways
Metabolic Diseases
Differentials
Rule in
Rule out
Phenylketonuria
• Vomiting, nonpurposeful movements,
microcephaly,
eczematous rash,
hypertonic, growth
retardation
• No mention of mousy
odor, no family history
of similar symptoms,
cannot explain
recurrent pulmonary
infections
Tyrosine Hydroxylase
Deficiency (Infantile
Parkinsonism)
• Jerky movements of the • Not tremors, cannot
limbs, spasticity, rigidity
explain recurrent
pulmonary infections,
microcephaly and poor
head control; no family
history of similar
symptoms
Metabolic Diseases
Differentials
Rule in
Rule out
Biotinidase deficiency
• Immunodeficiency
(recurrent pulmonary
infections), dermatitis
(dyshidrotic eczema),
developmental delay,
poor head control,
myoclonic seizure
• Spasticity; cannot
explain microcephaly;
no family history of
similar symptoms
Methylenetetrahydrofolate • Spasticity, microcephaly, • (-) convulsions;
Reductase (MTHFR)
developmental delay
Pulmonary infections
unexplained, poor head
deficiency 
Homocystinuria
control, Fam Hx?
Creatinine Deficiency
• Developmental delay, (-) • Growth retardation;
active speech,
Pulmonary infections
hypertonia, dyskinetic
unexplained,
movements
microcephaly & poor
head control, Fam Hx?
Spinal Cord Lesions
Differentials
Rule in
Rule out
Cord Transection
Spinal Cord Traction Injury
during delivery
• Mother’s contractions
during delivery not
sufficient
• (+) Response to pain
Spinal muscular atrophy
Type 2
(Chronic infantile form)
• Pt is within age range
(6-18 mos.) when
symptoms became
manifest
• Glaring developmental
motor delay
• Pulmonary infections
explained
• (-) Pseudohypertrophy
of gastrocnemius, MSK
deformities
• (-) postural finger
tremors
Cerebral Palsy
• Describes a group of disorders of
movement and posture, limiting
activity, attributed to non-progressive
underlying brain pathology.
Cerebral
Palsy
• The motor disorders of CP are often
accompanied by disturbances of
sensation, cognition, communication,
perception, and/or behavior, or by a
seizure disorder.
• Brain lesions of CP occur from the
fetal or neonatal period to up to age
3 years
• The etiology of CP is not well
understood and is thought to be
associated with prenatal, perinatal,
or postnatal events of varying
causes.
Cerebral
Palsy
• Risk factors for CP are multifactorial.
• Prevalence
• In developed countries: about 2-2.5
cases per 1000 live births
• In developing countries: about 1.5-5.6
cases per 1000 live births.
Clinical Presentations of Cerebral Palsy
• Failure to meet expected
developmental milestones
or failing to suppress obligatory
primitive reflexes.
• Abnormalities in muscle tone.
• Definite hand preference before age
1 year is a red flag for possible
hemiplegia.
• Asymmetric crawling or failure to
crawl also may suggest cerebral
palsy.
• Joint contractures secondary to
spastic muscles
• Hypotonic to spastic tone
• Growth delay
• Persistent primitive reflexes
• Gait pattern abnormalities
• Hip - Excessive flexion, adduction, and
femoral anteversion
• Knee - Flexion and extension with valgus
or varus stress occur.
• Foot - Equinus, or toe walking, and varus
or valgus of the hindfoot
• Spastic (70-80%) – Increased deep
tendon reflexes, sustained clonus,
hypertonia, and the clasp-knife
response
• Dyskinetic (10-15%) – Fluctuating tone,
rigid total body involvement by
definition. Persistent primitive reflex
patterns (asymmetric tonic neck reflex,
labyrinthine)
• Ataxic (<5%) – characterized by
cerebellar signs (ataxia, dysmetria, past
pointing, tremor, nystagmus) and
abnormalities of voluntary movement
• Mixed - no single specific tonal
quality predominating; mixture of
spastic and dyskinetic components
• Hypotonic - truncal and extremity
hypotonia with hyperreflexia and
persistent primitive reflexes; thought
to be rare
• Sensory:
• Sensorineural and conductive hearing loss
• Impaired visual acuity
• Oculomotor dysfunction
• Strabismus
• Cortical visual impairment
• Somatosensory impairments
• Neurologic:
• Seizures
• Hydrocephalus
• Cognitive and linguistic:
• Mental retardation
• High incidence of language and learning
disabilities
• Dysarthria
• Attention deficit hyperactivity disorder
• Sleep and behavioral disturbances
• Musculoskeletal:
• Contractures
• Hip dislocation
• scoliosis
• Cardiorespiratory:
• Upper airway obstruction
• Aspiration pneumonitis
• GI/Nutritional:
• Poor growth
• Gastroesophageal reflux
• Constipation
• Dysphagia
Pathophysiology of Cerebral Palsy
• <10% children with CP: evidence of
intrapartum asphyxia
• Associated with increased risk of CP in
normal birthweight infants: intrauterine
exposure to maternal infection
• Prevalence of CP is increased among
low birthweight infants, particularly
those weighing <1,000 g at birth :
because of intracerebral haemorrhage
and periventricular leukomalacia (PVL)
• Believed to be caused by nonprogressive disturbances in the immature
and still developing fetal or infant brain
• Insult to immature brain (before birth to
postnatal period)  if immediately
after postnatal period may be due to
hypoxic-ischemic encephalopathy 
cerebral insult  altered muscle tone,
muscle stretch reflexes, primitive
reflexes, postural ractions
• Cerebral insults may be vascular,
hypoxic-ischemic, metabolic, infectious,
toxic, teratogenic, traumatic, and
genetic in nature
Classification of Cerebral Palsy
MOTOR SYNDROME NEUROPATHY
Spastic Diplegia
• Periventricular
• Leukomalacia
(periventricular leukomlacic
[PVL])
Spastic Quadriplegia • PVL
• Multicystic
encephalomalacia
• Malformations
MAJOR CAUSES
•
•
•
•
Prematurity
Ischemia
Infection
Endocrine/metabolic (e.g., thyroid)
•
•
•
•
Ischemia
Infection
Endocrine/metabolic
Genetic/developmental
Hemiplegia
• Stoke: in utero or neonatal
•
•
•
•
Thrombophilic disorders
Infection
Genetic/developmental
Periventricular hemorrhagic infearction
Extrapyramidal
(athetoid, dyskenetic)
• Basal ganglia
• Pathology: putamen,
globus pallidus, thalamus
•
•
•
•
Asphyxia
Kernicterus
Mitochondrial
Genetic/metabolic
• Spastic Hemiplegia
• focal cerebral infarction secondary to
intrauterine or perinatal
thromboembolism related to
thrombophilic disorders, especially
anticardiolipin antibodies, is an important
cause
• Spastic Diplegia
• the most common neuropathologic finding
is periventricular leukomalacia,
particularly in the area where fibers
innervating the legs course through the
internal capsule
• Spastic Quadriplegia
• most severe form of CP; swallowing
difficulties are common as a result of
supranuclear bulbar palsies, often
leading to aspiration
• the most common lesions seen are severe
PVL and multicystic cortical
encephalomalacia
• Athetoid/Chorioathetoid/
Extraoyramidal CP
• if secondary to acute intrapartum neartotal asphyxia is associated with bilateral
symmetric lesions in the posterior
putamen and ventrolateral thalamus
Treatment
• Goal:
• to maximize the functional use of limbs
and ambulation
• to reduce the risk of contractures
• to help the patient in attaining his
greatest potential physically, mentally
and socially
• Physical therapy – to develop muscle
strength, flexibility and strength
• Occupational therapy – to help learn
physical skills needed to function in
everyday life
• Recreational therapy
• Orthotic devices such as ankle foot
orthoses
• Speech therapy – to overcome speech
problems
• Psychotherapy
• Teach the parents how to work with
their child in daily activities such as
feeding, dressing, bathing, and
playing in ways that limit the effects
of abnormal muscle tone.
• Instruct the parents in the supervision
of a series of exercises designed to
prevent the development of
contractures, especially a tight
Achilles tendon.
• Use walkers, poles, and standing
frames
• Surgery may be considered to
reduce muscle spasm around the hip
girdle (adductor tenotomy or psoas
transfer and release)
• Rhizotomy procedure – roots of the
spinal nerves are divided, produces
considerable improvement in some
patients
• A tight heel cord may be treated by
tenotomy of the Achilles tendon
• Constraints can be applied to the
unaffected side – this induces
improved hand and arm functioning
on the affected side. This is effective
in patients of all ages.
• Use motorized wheelchairs, special
feeding devices, modified
typewriters, and customized seating
arrangements
• To correct anatomical abnormalities
or release tight muscles
• To help repair dislocated hips and
scoliosis (curvature of the spine)
• Dorsal rhizotomy (for severe spastic
diplegia)
• Cut specific nerves at their roots to
reduce spasticity
• Stereotactic surgery
• To improve rigidity, athetosis and tremors
• Reconstructive surgery to an arm
• To restore muscle balance, release
contractures, and stabilize joints
• Goal of pharmacotherapy is to
reduce symptoms (e.g. spasticity) and
prevent complications (e.g.
contractures)
• 2 types of medications
• For spasticity and abnormal movement
• For seizures
• Dopaminergic drugs
• increase dopamine levels to decrease
rigidity and abnormal movements
• E.g. levodopa/carbidopa
• Muscle relaxants
• Botulinium toxin A: causes mild muscle
paralysis and reduce contractions
• Baclofen: controls muscle contractions and
relaxes tight muscles, but lowers seizure
threshold
• Benzodiazepines (valium) – sedation is a
side-effect
• Oral dantrolene sodium
• Need constant follow-up
• Anticonvulsants
• Used to terminate clinical and electrical
seizure activity as rapidly as possible
• Prevent seizure recurrence
• Phenobarbital or phenytoin
• Effective against partial seizures
• Benzodiazepines
• Used in acute management of seizures
• Important to identify and manage
behavioral problems early - work with a
psychologist or psychiatrist
• Learning and attention deficit disorders,
and mental retardation – assessed and
managed by a psychologist and educator
• Strabismus, nystagmus, and optic atrophy
are common – consult an ophthalmologist
• Promptly assess and treat lower urinary
tract dysfunction
• Communication - Use Blissymbolics, talking
typewriters, and specially adapted
computers
• Nelson’s Textbook of Pediatrics 18th ed.
• http://www.emedicinehealth.com/cerebral_palsy
• http://emedicine.medscape.com