disease of central nervous system...asst
TRANSCRIPT
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Disease of Central Nervous System
Rahul DhakerAsst. Professor
Ramsheni College of Nursing, Bhilwara-311001, Rajasthan
1R Dhaker, Asst. Professor, RCN
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Introduction • Disease of nervous system are fairly common in
children.
• Almost 20 to 30 percent of children are victims of
neurological illnesses.
• There are major contributors to childhood morbidity
and disability.
• Neurological disorder of infancy and childhood are
different than in adults. 2R Dhaker, Asst. Professor, RCN
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Cont… Introduction
• Neurological symptoms are also found in
association with various systemic disease.
• Common disease condition in children
involvement central nervous system-
• congenital malformation
• Prenatal problem
• Developmental disability
• CNS infection
• Craniocerebral trauma
• Brain tumor. 3R Dhaker, Asst. Professor, RCN
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• Diagnostic test –
• CT Scan
• MRI
• PET Scan
• SPET scan (Single-photon emission computed tomography)
• Cerebral angiography
• Myelography
• Neuropsychological testing.
• EEG
• Ultrasonography etc.
Cont… Introduction
4R Dhaker, Asst. Professor, RCN
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PET Scan
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• PET scan to inspect the blood flow, oxygen intake, and metabolism of your organs and tissues. PET scans are most commonly used to detect:
• Cancer
• Heart Problems
• Brain Disorders
• Problems With The Central Nervous System
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7R Dhaker, Asst. Professor, RCN
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Neonatal Convulsion
• Convulsion is the involuntary contraction or
series of contraction of the voluntary muscles.
• It occurs due to disturbance of the brain function
resulting from-
– abnormal excessive electrical discharge from
brain.
8R Dh@ker, Asst. Professor
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Cont…
• It is manifested by involuntary, motor, sensory,
autonomic or psychic phenomenon, alone or in
combination.
• It may be associated with alteration of level of
consciousness.
• Convulsion is also term as seizure.
• Convulsion are more commonly found in infants
and children. 9R Dh@ker, Asst. Professor
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• It is more commonly found alone with
– cerebral palsy (35%) and
– Mental retardation (20%).
• 57.5/1,000 in infants with birth weights <1,500 g
• 2.8/1,000 in infants weighing between 2,500 and
3,999 g have seizures.
Cont…
10R Dh@ker, Asst. Professor
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• Neonatal convulsion are common life
threatening emergency in the new born due to
cerebral or biochemical abnormality.
• Preterm and LBW babies are more prone to
this problem.
• Newborn babies do not manifest febrile
convulsion.
R Dh@ker, Asst. Professor 11
Cont…
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Etiology:
(1-4) days
1.Hypoxic-ischemic encephalopathy
2.Drug withdrawal or toxicity
3.Intraventricular hemorrhage
4.Acute metabolic disorders:
•hypocalcemia,
•hypoglycemia,
•hypomagnesemia and
•hypo or hyper natremia)
5.Inborn errors of metabolism (ex.
Galactosemia)
6.Pyridoxine deficiency.12
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(4-14) days
1. Infection ( meningitis ,
encephalitis)
2. Metabolic ( hypocalcemia,
persistent hypoglycemia)
3. Benign neonatal convulsion.
4.Kernectirus
5. Drug withdrawal
6. Developmental delay, epilepsy,
neonatal diabetes.
Cont…Etiology:
13R Dh@ker, Asst. Professor
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Cont…Etiology:
(2-8) wks
1. Infection ( meningitis , encephalitis)
2. Head injury( subdural hemorrhage,
child abuse)
3. Inherited disorders of metabolism
(ex. Aminoaciduria).
4. Malformation of cortical
development (ex lissencephaly)
5. Tuberous sclerosis.
6. Sturge weber syndrome. 14R Dh@ker, Asst. Professor
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Put them all together..1. Hypoxic ischemic encephalopathy (50-60)%..
Most common cause of neonatal seizure.
2. Vascular events (10 -20) %
3. Intracranial infection (5-10)%
4. Brain malformation (5-10)%
5. Metabolic disturbances (↓glycemia, ↓Ca, ↓Mg,
↓↑Na)
6. Drugs ( withrawal or toxicity)
7. Neonatal seizure syndromes : rare
8. Preinatal complication
9. Developmental neurological problem
15
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16
Febrile Convulsion
Febrile convulsions, the most common seizure
disorder during childhood.
Occurring between 6 months and 6 years.
Precipitated by fever from:
infection/inflammation/metabolic disorders .
It is not a form of epilepsy because brain is normal.
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Type of Febrile Convulsion
• Typical febrile convulsion
• Atypical febrile convulsion
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Typical febrile convulsion
• These are generalized rather than focal and last
less than 10 minutes.
• It is usually found in children between 6 month to
5 year of age.
• The fits occur within 24 hours of the onset of
fever and usually single/ febrile episode.
• There is no recurrence before 12 to 18 hours of
attack.
• No paralysis of limb.
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Cont…Typical febrile convulsion
• CSF and EEG are normal after the attack.
• Family history of convulsion is frequently present.
• The condition may have genetic predisposition or
may be due to immature neuronal membrane
response to rise of body temperature.
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Atypical febrile convulsion
• They predispose to idiopathic epilepsy.
• The children may have focal convulsion of more
than 20 minute duration even without significant
fever.
• They may have abnormal EEG for two weeks after
attack.
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Diagnostic evaluation • Family History of convulsion • History of Maternal drug addiction and infections • Time of onset of convulsion • Blood Examination for
– Calcium – Sugar – phosphorus
• Lumper puncture – CSF Examination• EEG• CT Scan• MRI • ECG• Serology for STORCH
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R Dh@ker, Asst. Professor 22
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Management
• Management of febrile convulsion should be
done-
– To control convulsion
– To reduce increased body temperature
– To treat the cause of fever, usually ARI
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Cont…Management
• Anticonvulsive drug are indicated in prolonged convulsion.
– Diazepam 0.3mg/kg IV day
– Phenoberbital 5mg/kg IM/day can be administered.
– Sodium valporate 10 to 20mg.kg/day
• Antipyretic
– Prarcetamol
– Mefanamic acid
– Tepid sponge should be given to treat fever.
• Hydration and nutrition status to be maintained.
• clearing of airway
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• Oxygen therapy may be needed for some children
• Rest
• Comfortable position
• Hygienic measure to be provided.
• Explanation and emotional support to the parent
are important and along with necessary health
education.
• Duration of therapy can be 1 to 2 year or upto 5
years.
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Cont…Management
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Prognosis • In typical febrile convulsion prognosis is good.
• In atypical type, there is chance of development of
complication like-
– Intellectual impairment
– Behavioral problem
– Epilepsy
• Chance of recurrence is about 30 to 80%.
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R Dh@ker, Asst. Professor 27
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NEONATAL SEIZURES
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Meningitis
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30R Dhaker, Asst. Professor, RCN
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Causes of Meningitis- Bacterial
- Viral
- Fungal
- Ricketsial (Rocky mountain spotted fever)
- Parasitic/ protozoal
- Physical injury
- Cancer
- Certain drugs ( mainly, NSAID’S)
Severity/treatment of illnesses differ depending on the cause. Thus, it is important to know the specific cause of meningitis.
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Clinical Manifestation
• The 3 classic symptoms (less likely in younger
children):
• Fever
• Headache
• Meningeal signs
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Symptoms in neonates:
• Poor feeding
• Lethargy
• Irritability
• Apnea
• Listlessness
• Apathy
• Fever
• Hypothermia
• Seizures
• Jaundice
• Bulging fontanelle
• Pallor
• Shock
• Hypotonia
• Shrill cry
• Hypoglycemia
• Intractable metabolic acidosis
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Symptoms in infants and children:
• Nuchal rigidity
• Opisthotonos
• Bulging fontanelle
• Convulsions
• Photophobia
• Headache
• Alterations of the
sensorium
• Irritability
• Lethargy
• Anorexia
• Nausea
• Vomiting
• Coma
• Fever (generally present, although some severely ill children present with hypothermia)
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Diagnosis• History of illness
• Definitive diagnosis is based on the following:
– lumbar puncture-CSF Examination
– Meningeal inflammation demonstrated by increased
pleocytosis, elevated protein level, and low glucose
level in the CSF
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CSF findings in different forms of meningitis
Type of
meningitisGlucose Protein Cells
Acute bacterial low highPMNs
often > 300/mm³
Acute viral normal normal or highmononuclear
< 300/mm³
Tuberculous low highmononuclear and
PMNs, < 300/mm³
Fungal low high < 300/mm³
Malignant low highusually
mononuclear
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Cont… Diagnosis
• Bacterial meningitis score
• Components of the bacterial meningitis score are
as follows:
– Positive CSF Gram stain
– CSF absolute neutrophil count 1000/µL or higher
– CSF protein level 80 mg/dL or higher
– Peripheral blood absolute neutrophil count
10,000/µL or higher
– History of seizure before or at the time of
presentation
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• Specific
• Hematologic
– Blood culture
• radiographic
– CT Scan
– MRI
Cont… Diagnosis
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Management• IV antibiotics are required; if cause is unknown,
agents can be based on child’s age, as follows:
– < 30 days, ampicillin and an aminoglycoside or a
cephalosporin
– 30-60 days, ampicillin and a cephalosporin; because
Streptococcus pneumoniae may occur in this age range,
consider vancomycin instead of ampicillin
– In older children, a cephalosporin or ampicillin plus
chloramphenicol with vancomycin (needs to be added
secondary to the possibility of S pneumoniae).
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• Guidelines and recommendations
• Vancomycin plus either ceftriaxone or cefotaxime
• Duration of therapy:
– Neisseria meningitidis - 7 days
– Haemophilus influenzae - 7 days
– Streptococcus pneumoniae - 10-14 days
– S agalactiae (GBS) - 14-21 days
– Aerobic gram-negative bacilli - 21 days or 2 weeks
beyond the first sterile culture (whichever is longer)
– Listeria monocytogenes - 21 days or longer
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• Duration of therapy should not be shorter than 5
days for meningococcus, 10 days for H
influenzae, and 14 days for S pneumoniae.
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Treatment
• Initial till results of
C/S are known
• Probable/Proved
Meningococci
• Ampicillin
300mg/kg/day+
• Chloramphenicol
75-100mg.kg/day
• Penicillins
2-5 lac units /kg/day
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Treatment
• Probable H.Influenzae
• Probable E.Coli
• Ampicillin + chloramphenicol or
3rd generation cephalosporin
(cefotaxime 200mg/kg/day)
• Ampicillin + gentamycin
200mg/kg+2.5-4 mg/kg IV 12hrly
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Treatment
• Probable group B
streptococci
• Penicillin
50,000i.u/kgI.V/4
hourly.
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Other Drugs available
Anti-microbials
• Ceftriaxone
• Cefotaxime
• Penicillin G
• Vancomycin
• Ampicillin
• Gentamicin
Anti-Virals
• Acyclovir
• Ganciclovir (>3mths)
Anti-fungals
Amphotericin B
Fluconazole
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Epilepsy
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Introduction
• Epilepsy is the most common childhood brain
disorder.
• About two-thirds of all children with epilepsy
outgrow their seizures by the time they are
teenagers.
• If you have a child with epilepsy, you're not alone
— 3 million children have this disorder.52R Dhaker, Asst. Professor, RCN
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• Epilepsy is a disease of the central nervous system
in which electrical signals of the Brain misfire.
• These disruptions cause temporary communication
problems between nerve cells, leading to seizures.
• Epilepsy knows no geographical, racial or
social boundaries. About 50 million people in
World have Epilepsy.
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Epilepsy
Epilepsy is a brain disorder in which clusters of
nerve cells, or neurons, in the brain sometimes
signal abnormally.
It produces changes
in a person's
• movement,
• behaviour or
• consciousness
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Causes of Epilepsy• Some people have a specific problem in the brain that
causes the seizures. These include:
• infectious illness (such as meningitis or encephalitis)
• brain malformation during pregnancy
• trauma to the brain (including lack of oxygen) due to an
accident before, during, or after birth or later in childhood
• metabolic disorders (chemical imbalances in the brain)
• brain tumors
• blood vessel malformation
• strokes
• chromosome disorders 56R Dhaker, Asst. Professor, RCN
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• Seizures in children have many causes. Common
causes of childhood seizures or epilepsy include
• fever (these are called febrile seizures)
• genetic causes
• head injury
• infections of the brain and its coverings
• lack of oxygen to the brain
• hydrocephalus (excess water in the brain cavities)
• disorders of brain development
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• The causes of epilepsy in childhood vary.
In about ⅔ of cases, it is unknown.
• Unknown 67.6%
• Congenital 20%
• Trauma 4.7%
• Infection 4%
• Stroke 1.5%
• Tumor 1.5%
• Degenerative .7%
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Classification of Seizures ILAE Classification (1981)
I. Partial (Focal)seizures
A. Simple partial seizures
B. Complex Partial Seizures
C. Partial Seizures evolving to secondary generalized seizures (tonic-clonic, tonic or clonic)
II. Generalized seizures (Convulsive and non-convulsive)
A. Absence seizures
i) Typical ii) Atypical
B. Myoclonic seizures
C. Clonic seizures
D. Tonic seizures
E. Tonic-Clonic seizures
F. Atonic seizures
(Combinations may occur: myoclonic and atonic or myoclonic and tonic)
III. Unclassified epileptic seizures59R Dhaker, Asst. Professor, RCN
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Diagnosis of Epilepsy
Thorough History taking :From patientsFrom reliable valid informantsFrom observer (who observed seizures)
Physical Examination:Specially neurological systemHigher Psychic function
Laboratory Investigation:S. Electrolytes, S. Prolactin, Blood sugar, CBC, LFT,
RFT, CSF study
Imaging:EEG, CT Scan of Brain, MRI of Brain, PET, SPECT.
Polysomnography
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Management
• Epilepsy affects every child differently
depending on:
• Age
• Types of seizure
• Response to treatment
• Having other health issues, etc.
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Cont… Management
• Commonly drugs are used-
– Phenoberbital- 3 to 5 mg/kg/d or 1 or 2 divided dose
– Diphenylhydantion- 5 to 8 mg/kg/d in 2 divided dose.
– Carbamazepin – 10 to 20 mg/kg/d in 2 to 3 divided
dose.
– Diazepan- 0.2 mg/kg/d IV
– Sodium Valporate- 15 to 20 mg/kg/d in 3 to 4 divided
dose.
• Usually single drug is used but if fails to relieve
seizure than addition of secondary drug is needed.
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Surgical Management
• Neurosurgical is indicated in some cases of
convulsion disorder, especially anatomical lesion
like – Brain tumor, hematoma etc.
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Encephalitis
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Term • Encephalitis: Infectious process & inflammatory
response limited to brain parenchyma.
• Meningoencephalitis:
Meninges + brain
• Encephalomyelitis:
Brain + spinal cord
• Encephalomyeloradicilitis:
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Introduction• In encephalitis, there is inflammation in the brain
tissues.
• In most cases, this inflammation is caused by a
virus
• In which children become more sleepy or drowsy
than usual.
• This can sometimes be subtle and noticed only
when there is a change in behavior.
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Definition
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Two Components:
1. Inflammation of brain, and
2. Dysfunction of brain.
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Definition • Encephalitis is an acute inflammation (swelling) of
the brain usually resulting from either a viral
infection or due to the body's own immune system
mistakenly attacking brain tissue.
• In medicine, "acute" means it comes on abruptly
and develops rapidly; it usually requires urgent
care.
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Causes of Encephalitis• Primary (infectious) encephalitis
can be split into three main
categories of viruses:
• Common viruses - including HSV
(herpes simplex virus) and EBV
(Epstein-Barr virus)
• Arboviruses (spread by mosquitoes,
ticks, and other insects) - including
Japanese encephalitis, West Nile
encephalitis, and tick-borne
encephalitis
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Cont… causes
• HIV (human immunodeficiency virus), the virus
that causes AIDS (acquired immunodeficiency
syndrome) and is transmitted when an infected
person's blood or b fluids are introduced into the
bloodstream of a healthy person
• Childhood viruses - including measles and
mumps, chicken pox, rubella (German measles),
polio, and other viral illnesses,
• Enteroviruses
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Clinical Manifestation • Child’s symptoms may depend on her situation—
– the part of the brain that is inflamed,
– the cause of the inflammation,
– the degree of inflammation, her age and other medical problems she may have.
– But even children in the same situation may show symptoms differently. Some of the most common symptoms of encephalitis may include:
• fever
• Severe headache
• Bulging fontanel
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Cont… Clinical Manifestation
• Sensitivity to light
• Neck stiffness (nuchal rigidity)– There may be stiffness of the limbs, slow movements, and
clumsiness
• Skin rashes
• Nausea/vomiting
• Loss of energy/appetite
• Changes in alertness (sleepiness)
• Confusion or hallucinations
• Disorientation ,
• Memory loss,
• Speech problems
• Hearing problems
• Problems walking
• Seizures
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• Emergency symptoms:
– Loss of consciousness
– Poor responsiveness, stupor, coma
– Muscle weakness or paralysis
– Seizures
– Severe headache
– Sudden change in mental functions, such as a flat
mood, impaired judgment, memory loss, or a lack of
interest in daily activities
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Cont… Clinical Manifestation
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Warning signs of encephalitis in children
• Fever with any of the following symptoms:
– Excessive drowsiness and sleepiness, out of
proportion to the fever
– Inconsolable, persistent irritability in an infant, out
of proportion to the fever
– Marked change in behaviour and personality
– Neck pain or stiffness, Seizures, focal neurological
deficits
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Diagnostic Evaluation
• The diagnosis of encephalitis is made after the
sudden or gradual onset of specific symptoms and
after diagnostic testing.
• obtains a complete medical history of child
– including his or her immunization history
– If child has recently had a cold or other respiratory
illness
– gastrointestinal illness and
– if the child has recently had a tick bite, has been around
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Cont… Diagnostic Evaluation
• Diagnostic test include:-
– X- Ray
– MRI
– CT Scan
– Blood tests
– Urine and stool tests
– Sputum culture
– EEG
– CSF Examination
– Brain biopsy. In rare cases, a biopsy of affected brain
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Treatment • Some kids with very mild encephalitis can be
monitored at home, but most will need care in a
hospital, usually in an intensive care unit (ICU).
• Carefully monitor their
–blood pressure,
–heart rate, and
–breathing,
– as well as their body fluids, to prevent further
swelling of the brain.
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Cont… Treatment
• Medication may include:-
– Antiviral medication
– Antibiotic medication
– Anti – Seizure medication
– Steroids
– Sedative to treat irritability.
– Acetaminophen for fever and headache.
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Prognosis
• The outcome varies
• Some case are mild and short and person fully
recovers.
• Other case are severe, and permanent impairment
or death is possible.
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Complication
• Permanent brain damage may occur in severe
case. It may affect-
– Hearing
– Memory
– Muscle control
– Sensation
– Speech
– Vision
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Cerebral Palsy
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Introduction• Cerebral palsy is a condition that affects
thousands of babies and children each year.
• It is not contagious, which means you can't catch
it from anyone who has it.
• The word cerebral means having to do with the
brain.
• The word palsy means a weakness or problem in
the way a person moves or positions his or her
body.
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• • Cerebral-
• “Latin Cerebrum”;
- Affected part of brain
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• “Palsy " –
Gr. para- beyond,
lysis - loosening
- Lack of muscle control
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• In 1860s, known as
• "Cerebral Paralysis” or
“Little’s Disease”
• After an English surgeon
wrote the 1st medical
descriptions
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Cont… Introduction
• Cerebral palsy (CP) is a disorder that affects muscle
tone, movement, and motor skills (the ability to move
in a coordinated and purposeful way).
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The word “cerebral” refers to the brain’s
cerebrum, which is the part of the brain that
regulates motor function. “Palsy” describes the
paralysis of voluntary movement in certain
parts of the body.
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• Muscles are
unaffected
• Brain is unable
to send the
appropriate
signals necessary
to instruct
muscles when to
contract and relax
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Etiology • Prenatal –
mother • Iron def., poor –
nutrition
• Inf, UTI, high fever
• Chorioamniotis
• HTN, DM
• Teratogens
• Poor ANC
• Rh ?
• Twins
• Fetal vasculopathy
• Maternal drugs/smoking(>30) R Dhaker, Asst. Professor, RCN 93
•Perinatal•Birth asphyxia•Breach/vacuum/forc•Premature / LBW(>60/1000)•IUGR•Hyperbilirubenemia•Intraventricular hemorrrhage•Sepsis, pneumonia, meningitis•Develop. Malformation,•abruptio
Postnatal
•CNS infections
•Head injuries
•Seizures
•Hypoxic
damage
•Hyperpyrexi a
damage
•Stroke
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CHIEF CAUSE• Severe deprivation of
oxygen or blood flow
to the brain
– Hypoxic-ischemic
encephalopathy
or
– intrapartal asphyxia
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Incidence• Time (% of cases)
• Prenatal (44%)
– First trimester
– Second trimester
• Labor and delivery (19%)
• Perinatal (8%)
• Childhood (5%)
• Not obvious (24%)
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• An incidence of cerebral palsy is
– 0 .6 to 4 per 1000 live birth and but high incidence
(27 time more) in low birth weight (<1.5 kg) and
– pre term born babies (< 7 month of pregnancy).
• Worldwide about 15 million and in India about 3
million are affected with cerebral palsy.
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Classification of CP
1. Neurologic deficits
2. Type of movement involved
3. Area of affected limbs
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Neurologic deficits
• Based on the– extent of the damage
–area of brain damage
• Each type involves the way a person moves
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Cont…Neurologic deficits
1. PYRAMIDAL
• originates from the motor areas of the cerebral cortex
2. EXTAPYRAMIDAL
• basal ganglia and cerebellum
3. MIXED
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Type of movement involved
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Cont… Type of movement involved
1. Spastic CP
2. Athethoid CP
3. Ataxic CP
4. Spastic &
Athethoid CP
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Area of affected limbs• Paraplegia
• Diplegia
• Hemiplegia
• Quadriplegia
• Monoplegia -one limb (extremely rare)
• Triplegia -three limbs (extremely rare)
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Clinical Manifestation
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Late infancy• Inability to perform motor skills as indicated:
– Control hand grasp by 3 months
– Rolling over by 5 months
– Independent sitting by 7 months
• Abnormal Developmental Patterns:
– Hand preference by 12 months
– Excessive arching of back
– Log rolling
– Abnormal or prolonged parachute response
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Associated Problems Of Cerebral Palsy
• Hearing and visual problems
• Sensory integration problems
• Failure-to-thrive, Feeding problems
• Behavioral/emotional difficulties,
• Communication disorders
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Cont… Associated Problems Of Cerebral Palsy
• Bladder and bowel control problems, digestive
problems (gastroesophageal reflux)
• Skeletal deformities, dental problems
• Mental retardation and learning disabilities in
some
• Seizures/ epilepsy
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Diagnostic Evaluation• Physical evaluation, Interview
• MRI, CT Scan EEG
• Laboratory and radiologic work up
• Assessment tools
– i.e. Development Motor Skills,
–Denver Test II
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• History Taking
– Include all that may predispose an infant to brain damage or CP
– Risk factors
– Psychosocial factors
– Family adaptation
• Child's Health History
– Often admitted to hospitals for corrective surgeries and other complications.
– Respiratory status
– Motor function
– Presence of fever
– Feeding and weight loss
– Any changes in physical state -Medical regimen
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• Physical Examination
• P osturing / Poor muscle control and strength
• O ropharyngeal problems
• S trabismus/ Squint
• T one (hyper-, hypotonia)
• E volutional maldevelopment
• R eflexes (e.g. increaseddeep tendon)
*Abnormalities 4/6 strongly point to CP
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Treatment • No treatment to cure cerebral palsy.
• Brain damage cannot be corrected.
• Crucial for children with CP:
– Early Identification;
– Multidisciplinary Care; and
– Support
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• General management
– Proper nutrition and personal care
• Pharmacologic
– Botox, Intrathecal, Baclofen• control muscle spasms and seizures,
– Glycopyrrolate -control drooling
– Pamidronate -may help with osteoporosis.
• Surgery
– To loosen joints,
– Relieve muscle tightness,
– Straightening of different twists or unusual curvatures of leg muscles
– Improve the ability to sit, stand, and walk.
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• Physical Aids
– Orthosis, braces and splints
– Positioning devices
– Walkers, special scooters, wheelchairs
• Special Education
• Rehabilitation Services- Speech and occupational therapies
• Family Services -Professional support
• Other Treatment
– Therapeutic electrical stimulation, -Acupuncture,
– Hyperbaric therapy
– Massage Therapy might help
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• Physical Therapy
• Sitting
– Vertical head control and control of head and trunk.
• Standing and walking
– Establish an equal distribution of weight on each foot,
train to use steps or inclines
• Prone Development
• Supine Development
– Head control on supine and positions
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Neural Tube Defects
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Introduction • Neural tube defects are birth defects of the
– brain,
– spine, or
– spinal cord.
• NTDs are one of the most common birth defects,
affecting over 300,000 births each year worldwide.
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• The neural tube forms by the 28th day after
conception
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• In the 3rd week of pregnancy called gastrulating,
specialized cells on the dorsal side of the embryo
begin to change shape and form the neural tube.
When the neural tube does not close completely,
an NTD develops.
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Classification
• NTDs can be classified, based on embryological
considerations and the presence or absence of
exposed neural tissue:-
• Open NTD
• Close NTD
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• Open NTDs frequently involve the entire CNS
• (eg, associated hydrocephalus, Chiari II
malformation) and are due to failure of primary
neurulation. Neural tissue is exposed with
associated cerebrospinal fluid (CSF) leakage.
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• Closed NTDs are localized and confined to the
spine (brain rarely affected) and result from a
defect in secondary neurulation. Neural tissue is
not exposed and the defect is fully epithelialized,
although the skin covering the defect may be
dysplastic.
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• Cranial presentations include the following
• Anencephaly
• Encephalocele (meningocele or
meningomyelocele)
• Craniorachischisis totalis
• Congenital dermal sinus
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• Spinal presentations include the following
• Spina bifida aperta (cystica)
• Myelomeningocele (see following images)
• Meningocele
• Myeloschisis
• Congenital dermal sinus
• Lipomatous malformations (lipomyelomeningoceles)
• Split-cord malformations
• Diastematomyelia
• Diplomyelia
• Caudal agenesis129
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Etiology
• The chance that a pregnancy will be affected by a
neural tube defect is less than one in 1000.
• However, there are a number of factors that will
increase this risk. The main one is a close family
history of neural tube defects.
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Cont… etiology
• The majority of NTDs are etiologically complex.
• Vitamin B9 and vitamin B12 are very important in
reducing the occurrences of NTDs.
• Genetic factor
• Environmental factor
– folic acid deficiency,
– anti-seizure medications
– uncontrolled diabetes,
– alcohol, obesity, and
– increased body temperature
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Spina bifida
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• Spina bifida is a birth defect where there is
incomplete closing of the backbone and
membranes around the spinal cord.
• The most common location is the
– lower back, but
– in rare cases it may be the middle back or neck
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• Spina bifida is one of the most common birth
defects, with an average worldwide incidence of
one to two cases per 1000 births, but certain
populations have a significantly greater risk.
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CAUSES• Maternal diabetes
• Family history
• Obesity
• Increased body temperature from fever or externalsources such as hot tubs and electric blankets mayincrease the chances of delivery of a baby with aspina bifida.
• Medications such as some anticonvulsants.
• Pregnant women taking Valproic acid have anincreased risk of having children with spina bifida
• Genetic basis.
• Folic acid deficiency
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TYPES:• Spina bifida malformations fall into three
categories:
spina bifida occulta
spina bifida cystica with meningocele
spina bifida cystica with myelomeningocele.
(The most common location of the malformations
is the lumbar and sacral areas)
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Spina bifida occulta• Occulta is Latin for "hidden".
• This is the mildest form of spina
bifida.
• In occulta, the outer part of some
of the vertebrae is not
completely closed.
• The splits in the vertebrae are so
small that the spinal cord does
not protrude.
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Cont… Spina bifida occulta
• The skin at the site of the lesion may be normal, or it
may have some hair growing from it; there may be a
dimple in the skin, or a birthmark.
• The incidence of spina bifida occulta is approximately
10% of the population, and most people are diagnosed
incidentally from spinal X-rays
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Meningocele:
• The least common form of
spina bifida is a posterior
meningocele
(or meningeal cyst).
• In this form, the vertebrae
develop normally, but
the meninges are forced
into the gaps between the
vertebrae.
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Myelomeningocele
• This type of spina bifida often results in the most
severe complications.
• In individuals with myelomeningocele, the
unfused portion of the spinal column allows the
spinal cord to protrude through an opening.
• The meningeal membranes that cover the spinal
cord form a sac enclosing the spinal elements.
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• Spina bifida with myeloschisis is the most severe
form of myelomeningocele. In this type, the
involved area is represented by a flattened, plate-
like mass of nervous tissue with no overlying
membrane.
• The exposure of these nerves and tissues make the
baby more prone to life-threatening infections
such as meningitis.
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