Neurology Flashcards
(118 cards)
1
Q
What is the most common cause of motor impairment in children?
A
Cerebral Palsy.
Affects about 2 per 1000 live births.
2
Q
What is Cerebral Palsy (CP)?
A
A disorder of posture and movement due to non-progressive damage to the developing brain.
3
Q
Cerebral Palsy (CP)
Early years of brain development are?
A
In general <3yrs
4
Q
Cerebral Palsy (CP)
What is Non-progressive disease?
A
Damage to the brain does not progress/worsen.
Child will not lose already acquired milestones and also new manisfestations will be rare.
Eg: Child has problems in movement, now speech problems develop too. This is progressive damage.
5
Q
Cerebral Palsy (CP)
Associated problems
A
- Developmental delay
- Visual Impairment
- Hearing impairment
- Speech delay
- Bowel & bladder problems
6
Q
Cerebral Palsy (CP)
What can be progressive in CP?
A
The underlying cause of CP is non-progressive/ static. But the resulting motor disorder may evolve, giving the impression of deterioration.
Eg: Muscle contractures will worsen if physiotherapy was not done properly, even when the original brain damage is not worsening.
i.e. Brain damage does not worsen, but the affected muscle component can.
7
Q
Cerebral Palsy (CP)
Differentiate from a Neurodegenerative disorder
A
Neurodegenerative disorders will lose already acquired milestones (Eg: Could walk, but now can’t). In CP already acquired milestones are not lost.
8
Q
Cerebral Palsy (CP)
Examples for neurodegenerative disorders
A
Adrenoleucodystrophy
Multiple Sclerosis
9
Q
Cerebral Palsy (CP)
Causes
A
- Antenatal in origin (80%) - Defects occuring in utero. Due to genetic defects, syndromes, congenital infections, maternal diseases (DM).
- Perinatal in origin (10%) - hypoxic-ischaemic injury during delivery. Pre-term infants are especially vulnerable to brain damage from periventricular leucomalacia (PVL) secondary to ischaemia and/or severe intraventricular hemorrhage.
- Postnatal in origin (10%) -
Meningitis/ encephalitis/ encephalopathy (from metabolic problems such as increased NH3 or increased lactate)
Head trauma from accidental/non-accidental injury
Symptomatic hypoglycemia
Hydrocephalus
Hyperbilirubinemia
10
Q
Cerebral Palsy (CP)
What is PVL?
A
Periventricular leucomalacia.
Tissues around ventricles of brain become ischemic leading to soft tissues (like liquifying).
Can be Dx by USS/CT brain.
11
Q
Cerebral Palsy (CP)
Clinical presentation of a patient with CP
A
- Difficulty in walking/ gait problems
- Developmental delay
- Seizures
- Bladder & Bowel problems
- Hearing & visual impairments
- Feeding difficulties - Dysphagia, Aspiration pneumonia
12
Q
Cerebral Palsy (CP)
C/F
A
- Abnormal limb and/or trunk posture and tone in infancy.
- Delayed motor milestones
- There maybe slowing of head growth (Microcephaly)
- Feeding difficulties (with oro-motor incoordination, slow feeding, gagging and vomiting).
- Abnormal gait once walking is achieved.
- Asymmetric hand function (hand preference) before 12M of age - Indicates other side of body is weak. Hand preference normally occurs after 1 year.
- Primitive reflexes, which facillitate the emergence of normal patterns of movements and which need to disappear for motor development to progress, persist. - Palmar reflexes
- Seizures
- Visual impairments
- Hearing Impairments
- Poor Cognition
13
Q
Cerebral Palsy (CP)
Types
A
Spastic CP (90%)
Dyskinetic (6%)
Ataxic (4%)
14
Q
Cerebral Palsy (CP)
C/F of Spastic CP
A
- **Damage to Upper motor neuron **(pyramidal/ corticospinal tract) pathway.
- Limb tone is increased (Spasticity)
- Deep tendon reflexes and extensor plantar responses are exaggerated.
- Spasticity tends to occur early and may even be seen in the neonatal period.
- Sometimes there is initial hypotonia, particularly of the head and trunk
15
Q
Cerebral Palsy (CP)
Types of Spastic Cp
A
- Hemiplegia
- Quadriplegia
- Diplegia
16
Q
Cerebral Palsy (CP)
Hemiplegia C/F
A
- Unilateral involvement of the arm and leg.
- The arm is usually affected more than the leg, with the face spared.
- Affected children often present at 4-12M of age with fisting of the affected hand, a flexed arm, a pronated forearm, asymmetric reaching or hand function. - Early hand preference.
- Subsequently a tiptoe walk (toe-heel gait) on the affected side may become evident - due to increased muscle tone.
- Affected limbs may initially be flaccid and hypotonic, but increased muscle tone soon emerges as the predominant sign.
17
Q
Cerebral Palsy (CP)
Quadriplegia C/F
A
- All Four limbs affected, often severely (there is scissoring of legs, pronated forearms and fisted hands). Upper limbs are more affected.
- The trunk is involved with a tendency to opisothonus posturing (extensor posturing)
- Often associated with seizures, microcephaly and moderate or severe intellectual impairment.
- There may have been a Hx of perinatal hypoxic-ischaemic encephalopathy.
18
Q
Cerebral Palsy (CP)
Diplegia C/F
A
- All four limbs are affected, but the legs are affected to a much greater degree than the arms, so that the hand function may appear to be relatively normal.
- Diplegia is one of the patterns associated with preterm birth due to periventricular brain damage.
- Maybe wheelchair bound, with near normal hand functions.
19
Q
Cerebral Palsy (CP)
Dyskinetic CP C/F
A
- Aka Athetotic type CP
- Common in babies with Jaundice
- Dyskinesia refers to movements which are involuntary, uncontrolled, occasionally stereotyped, and often more evident with active movement or stress.
- Maybe described as:
Chorea - Irregular, sudden and brief non-repetitive movements.
Athetosis - Slow writhing movements occuring more distally such as fanning of the fingers
Dystonia - Simultaneous contraction of agonist and antagonist muscles of the trunk and proximal muscles often giving a twisting appearance (Eg: Bicep + Tricep contraction), this might lead to feeding difficulties (due to dystonia in esophagus), Failure to thrive. - Intellect maybe relatively impaired.
C/F -
1. Floppiness (Muscle tone decreased)
2. Poor trunk control and delayed motor development in infancy (unable to sit)
3. The signs are due to damage/ dysfunction in the basal ganglia or their associated pathways (extrapyramidal).
4. In the past the commonest cause was hyperbilirubinemia (kernicterus) due to rhesus disease of the newborn, but now it is now hypoxic-ischemic encephalopathy at term.
20
Q
Cerebral Palsy (CP)
Ataxic (Hypotonic) CP C/F
A
- Early trunk and limb hypotonia, poor balance and delayed motor development (broad base gait). Incoordinate movements, intention tremor and an ataxic gait maybe evident later.
- If it occurs due to acquired brain injury (Cerebellum or its connections), the signs occur on the same side as the lesion but are usually relatively symmetrical.
- Most are genetically determined.
21
Q
Cerebral Palsy (CP)
Ix
A
Generally does not require any Ix. It is a clinical Dx.
But if child has complications, specific Ix can be done,
* If child has seizures - EEG
* Aspiration pneumonia - Chest X-ray
* Congenital Infections - TORCH screening (Toxoplasma, Rubella, Cytomegalovirus, Hepatitis)
22
Q
Cerebral Palsy (CP)
Mx
A
A multidisciplinary team approach,
* Parents
* Paediatrician
* Physiotherapist
* Occupational Therapist
* ENT surgeon
* Eye surgeon
* Orthopedic surgeon
* Social workers
* Teachers
Drugs used,
* Baclofen - Reduces muscle tone/ spascity
* Benzexole (Brand - Artaine) - Reduces dystonia/ abnormal muscle movements
* Botulinum toxin (Botox) - Blocks NMJ so it paralyses muscle, reducing muscle tone/ spascity.
23
Q
Meningitis
Causes
A
Occurs when there is an inflammation of the meninges covering the brain.
Bacterial Causes -
* Neonatal - 3M :
1. Group B streptococcus (Strep. agalactiae) - Gram +ve
2. E. Coli and other coliforms - Gram -ve
3. Listeria monocytogenes - gram -ve
* 1M - 6yrs:
1. Neisseria meningitidis - Gram -ve
2. Strep. pneumoniae - Gram +ve
3. Haemophilus influenzae - Gram -ve
* >6yrs:
1. Neisseria meningitidis - gram -ve
2. Strep. pneumoniae - gram +ve
Viral causes - Most common cause of meningitis, most are self resolving.
Enteroviruses, EBV, adenoviruses, mumps
Uncommon pathogens: (esp if the child is immunodeficient) Mycoplasma or Borrelia burgdoferi (Lyme disease), or fungal infections. Haemophillus influenza is uncommon due to its vaccine.
At any age TB can cause meningitis.
24
Q
Meningitis
Sx
A
Depends on age,
Older children:
* Fever
* Headache
* Photophobia
Younger Infants:
* Lethargy
* Poor feeding/ Vomiting
* Irritability
* Hypotonia
* Drowsiness
* Loss of conciousness
* Seizures
25
# Meningitis
Signs
* Fever
* Purpuric purple rash - Meningococcal disease
* Neck stiffness (not always present in infants)
* Bulging fontanelle in infants
* Opisthotonus - arching of back
* Positive Brudzinski/ kernig signs
Brudzinski - flexion of the neck with the child supine causes flexion of the knees and hips.
Kernig sign - with the child lying supine and with the hips and knees flexed, there is back pain on extension of the knee.
* Signs of shock (due to septicemia) - Low BP, high HR
* Focal neurological signs - Opposite side paralysis, seizures
* Altered conscious level
* Papilloedema (rare) - optic disc swelling due to increased ICP
26
# Meningitis
Ix
1. FBC & Differential count - High WBC (neutrophils high if bacterial, lymphocytes high if viral/fungal/Tb)
2. CRP - very high in bacterial, moderately high in viral
3. Blood culture - will be +ve in case of bacterial
4. Rapid antigen test for meningitis organisms (can be done on blood, CSF or urine).
5. LP for CSF unless Contraindicated.
6. PCR of blood and CSF for possible organisms.
7. If TB suspected - Chest xray, Mantoux test, gastric washings or sputum, early morning urines.
8. Neuroimaging if child has papilloedema, focal seizures and if fever does not settle.
27
# Meningitis
LP contraindications
* Cardiorespiratory instability - If the child is in shock
* Focal neurological signs - Focal seizures
* Signs of raised ICP - Coma, high BP, Low HR, papilloedema
* Coagulopathy
* Thrombocytopenia - They can bleed into spinal cord causing damage leading to paralysis.
* Local infection at the site of LP
* If mother does not give consent
* Bulging Fontanelle is not a CI of LP.
28
# Meningitis
Normal composition of CSF
Appearance - Clear
WBCs - 0 - 5mm3
Protein - 0.15 - 0.4g/L (400mg/L, 40mg/dL)
Glucose - >=50% of blood sugar
29
# Meningitis
CSF composition in bacterial meningitis
Appearance - Turbid
WBCs - High Neutrophils
High protein
Low glucose
30
# Meningitis
CSF composition in Viral Meningitis
Clear appearance
High lymphocytes (initially maybe polymorphs)
Normal or slightly high Protein
Normal or slightly low glucose.
31
# Meningitis
CSF composition in TB Meningitis
Turbid/ clear/ viscous/ Cobweb appearance
High lymphocytes
Very high protein
Very low glucose
32
# Meningitis
CSF compostion in encephalitis and fungal meningitis
Encephalitis - Commonly viral (japanese encephalitis, herpes)
Clear appearance, Normal/ increased lymphocytes, normal/ increased protein, normal/ decreased glucose.
Fungal Meningitis - Increased lymphocytes, slightly increased protein
33
# Meningitis
CSF findings in **Partially treated** Bacterial Meningitis
* **Lymphocytes will be high**
* Protein level remain high
* Sugar level will remain low
* CSF culture - could be -ve
* Antigen test will be +ve - Due to the prescence of cell wall antigens of dead pathogens. Dx of partially treated bacterial meningitis
34
# Meningitis
Mx
* Monitor Vital signs - BP, RR, GCS, PR
* Keep under observation for cerebral edema- headache, papilloedema
* Septicemia can kill in hours, so requires prompt resuscitation and antibiotics.
IV antibiotics for bacterial causes - A 3rd gen cephalosporin (cefotaxime, ceftriaxone).
Beyond the neonatal period, dexamethasone administered with the antibiotics reduces the risk of long-term complications.
* General supportive Mx - PCM to settle the fever.
* **Any febrile child with a purpuric rash should be given IM benzylpenicillin immediately and transfered urgently to hospital.** Ceftriaxone can also be given.
35
# Meningitis
Complications
* Hearing loss (due to cochlear hair cell damage)
* Local vasculitis - CN palsies
* Local cerebral infarction - Seizures and epilepsy
* Subdural effusion - pus collection in brain
* Hydrocephalus
* Cerebral abscess - very high fever with chills & rigors
The child's clinical condition deteriorates with the emergence of signs of space occupying lesion. The temperature will continue to fluctuate. It is confirmed on CT scan. Drainage of abscess is required.
Much of the damage caused by meningeal infection results from the host response to the infection and not from the organism itself.
36
# Meningitis
Prophylaxis
Prophylactic Rx with rifampicin to eradicate nasopharyngeal carriage is given to all household contacts and health workers in contact with family for meningococcal meningitis and H. influenzae infection.
37
# Meningitis
Causes of unresolving fever in Meningitis
Viral meningitis
Wrong antibiotics
TB meningitis
Formation of brain abscess.
38
# Meningitis
Mx of brain abscess
Usually causes by Staph. aureus.
Antibiotics - Flucloxacillin, vancomycin
Sometimes Drainage
39
# Encephalitis
Problem in encephalitis
Inflammation of brain substance, although the meninges are also affected.
40
# Encephalitis
Common organisms responsible
1. Herpes simplex virus (HSV)
2. Japanese encephalitis (JE)
41
# Encephalitis
Clinical presentation
Fever, altered conciousness, seizures, behavioral disorders
42
# Encephalitis
Differences between HSV encephalitis and JE
HSV encephalitis - Focal seizures/ unilateral
JE - General seizures / Bilateral
43
# Encephalitis
Ix
EEG - Shows slow waves
CSF antibody test/analysis - To differentiate HSV antibodies/ chromosomal material or JE antibodies/ chromosomal material.
44
# Encephalitis
CSF changes
Increased lymphocytes
Slightly increased protein
Sugar normal
45
# Encephalitis
Mx
JE - Supportive Mx (Seizure control), Vaccination for prevention at 1yr of age.
HSV encephalitis - IV aciclovir, seizure control
Potential HSV must be treated with parenteral high dose aciclovir until Dx is excluded.
46
# Encephalitis
Complications
* Death
* Hearing impairment
* Visual imapairment
* Speech problems
* Abnormalities in memory/ education
* Developmental delay & regression of acquired milestones
* Cognitive problems
47
# Seizure disorder
What is a seizure?
A clinical event in which there is a sudden disturbance of neurological function caused by an abnormal or excessive neuronal discharge.
Maybe epileptic or non-epileptic
48
# Seizure disorder
What is epilepsy?
Recurrent, multiple seizures (minimum of 2)
Abscence of a provoking cause.
It is a chronic neurological disorder charcterized by **recurrent unprovoked seizures**, consisting of transient signs/ or Sx associated with abnormal, excessive or synchronous neuronal activity in the brain.
49
# Seizure disorder
Causes of epileptic seizures
* Idiopathic (70-80%) - Cause unknown but presumed genetic
* Secondary
Cerebral dysgenesis/ malformation
Cerebral vascular occlusion
Cerebral damage Eg: congenital infections (TORCH), hypoxic-ischemic encephalopathy, intraventricular hemorrhage/ ischemia
* Cerebral tumor
* Neurodegenerative disorders - Adrenoleucodystrophy
* Neurocutaneous Xd - Neurofibromatosis, Tuberosclerosis
50
# Seizure disorder
Casues of Non-epileptic seizures
* Febrile seizures
* Metabolic
Hypoglycemia
Hypocalcemia/ hypomagnesemia
Hypo/hypernatremia
* Head Trauma
* Meningitis/ encephalitis
* Posions/ toxins
51
# Childhood Epilespy
Types
Partial/ Focal
Generalized
52
# Childhood Epilespy
C/F of partial/ focal
* Arises from one or part of the one hemisphere (Usually the temporal lobe. Only a part of the body is affected.
53
# Childhood Epilespy
Types of partial/ focal
1. Simple partial epilepsy - No impairment in conciousness
2. Complex partial epilespy - Reduced level of conciousness, LOC
3. Focal seizures - Partial epilepsy with secondary generalization.
54
# Childhood Epilespy
Focal seizures C/F
* Begin in a relatively small group of dysfunctional neurones in one of the cerebral hemispheres.
* Maybe preceded by an aura which reflects the site of origin.
Temporal Lobe - Deja vu, Jame su phenomenon
Frontal Lobe - Behavioral abnormalities (Hugging)
Occipital Lobe - Visual aura (Bright colors moving, flashing lights)
Deja vu - Undue familiarity to unfamiliarity
Jame su - Undue unfamiliarity to known things
55
# Childhood Epilespy
C/F of Generalized
* Arise from both hemispheres
* The whole body is affected
* There is always a LOC
* Symmetrical seizures - B/L
* Bilaterally synchronous discharge on EEG or varying asymmetry.
56
# Childhood Epilespy
Types of Generalized
* Grandmal (Generalized tonic clonic) - Commonest
* Petitmal (Abscence seizures) - Staring episodes
* Tonic epilepsy
* Clonic epilepsy
* Infantile spasms - Salam attacks
57
# Childhood Epilespy
Subtypes
Infantile spasms
Chilhood abscence epilepsy
Benign Rolandic seizure
58
# Childhood Epilespy
C/F infantile spasms
* 4-6M
* Violent flexor spasms of the head, trunk and limbs followed by extension of the arms (Salam spasms)
* Flexor spasms lasts 1-2s, often multiple bursts of 20-30 spasms.
* Often on waking, but may occur many times a day.
* Social interaction often deteriorates
* Developmental regression
* EEG shows hypsarrhythmia.
* Most will subsequently lose skills and develop learning disability or epilepsy.
* Bad prognosis.
59
# Childhood Epilespy
C/F childhood absence epilepsy
* 4-12yrs
* Stare momentarily and stop moving, may twitch their eyelids or a hand minimally.
* Lasts only a few seconds and certainly not longer than 30s.
* Child has no recall except realizes they have missed something.
* Developmentally normally but can interfere with schooling
* Education is generally normally.
* 2/3 female.
* Episodes can be induced by Hyperventilation - The child being asked to blow on a piece of paper or windmill for 2-3mins. Ask child to breathe fast.
* The EEG shows generalized 3 spikes per second spike and wave discharge.
* Prognosis is good.
60
# Childhood Epilespy
C/F Benign Rolandic Seizure
* 10yrs
* Unilateral
* Commonly occurs at night/ during sleep
* Abnormal noise from throat.
* Can be disoriented or semi-conscious
* Common in males
* EEG shows centro-temporal spikes and waves.
* Generally anti-epileptics are not required - But there's a place for carbamezapine.
61
# Childhood Epilespy
Ix
EEG - as it is done after or in between fits, the EEG may be normal in a child with epilepsy.
If the EEG is normal, a sleep or sleep deprived record can be helpful. Additional techniques are 24h ambulatory EEG or ideally, video telemetry.
CT/ MRI - Indicated if there are neurological signs between seizures, or if seizures are focal, in order to identify a tumor, vascular lesion or area of sclerosis which could be treatable.
62
# Childhood Epilespy
Mx
* Not all seizures require Antiepileptic drug (AED) therapy.
* This decision is based on the seizure type, frequency and the social and educational consequences of the seizures vs side effects of the drugs.
* Monotherapy at the minimum dosage is the desired goal, although in practice more than one drug maybe required.
* AED therapy can usually be discontinued after 2yrs free of seizures.
Generalized tonic clonic - Sodium Valproate (1st line), Carbamezapine, lamotrigine, topiramate (2nd line)
Abscence - Ethosuximide/ Valproate (1st line), Valproate, lamotrigine (2nd line)
Infantile spasm - IM ACTH or prednisolone, Vigabatrin (1st Line), Valproate, clonazepam (2nd line)
Focal seizures - Carbamezapine (1st line), Valproate, lamotrigine, newer drugs (2nd line)
63
# Childhood Epilespy
S/E of AED
Common side effects - Sleepiness, Memory impairment, Poor educational performance.
Sodium Valproate - Hepatotoxicity, Weight gain, Acute pancreatitis
Carbamezapine - Steven-jhonson Xd, Oral and mucosal ulcers, Rash, Liver enzyme induction (results in increased breakdown of drugs Eg: OCP), Neutropenia, aplastic anemia
Phenytoin - Gingival hypertrophy, Ataxia, Increased hair growth (hirsiutism), Liver enzyme induction, Folic acid deficiency
Topiromate - Hepatotoxicity, Impaired education
64
# Guillain-Barre Xd (GBS)
Pathophysiology
An acute inflammatory demyelinating polyneuropathy.
Myelin sheath damage due to antibody activity. Decreases nerve conduction velocity.
65
# Guillain-Barre Xd (GBS)
Clinical presentation
Usually prsents 2-3W after an upper respiratory tract infection or campylobacter gastroenteritis.
Affects peripheral nerves, both spinal and cranial.
C/F:
* Ascending (Legs to upper body) symmetrical weakness with loss of reflexes.
* Autonomic involvement (BP fluctuation, pulse affected, paralytic ileus, urinary retention)
* Sensory involvement of distal limbs
* Bulbar muscle (Innervated by CN 9,10,11,12. Important for swallowing and coughing) involvement lead to difficulty in swallowing and risk of aspiration.
* Respiratory depression due to paralysis of respiratory muscles - diaphragm
* Cardiovascular instability (Hypotension and arrythmias) due to autonomic involvement.
* Facial nerve can be affected causing deviation of mouth.
66
# Guillain-Barre Xd (GBS)
Ix
Nerve conduction studies - Nerve conduction velocity reduced.
CSF changes - seen during and after the 2W of illness
CSF protein markedly increased with no change in WBC count. - Albuminocytological dissociation.
67
# Guillain-Barre Xd (GBS)
Rx
* Ig infusion
* Plasma exchange if Ig infusion is unsuccessful
* Steroids have no place in the Mx now.
* Respiratory function assessment is needed. In the ward to see if they are getting better/ worse.
Single breath counting test - Holding the breath and counting. Its easy to do.
Eg: 1st day - Counted to 20 in a single breath, next day only 15 - gotten worse.
Vital capacity is the best test to assess.
* Physiotherapy may improve the outcome.
68
# Guillain-Barre Xd (GBS)
What is Miller-Fischer Xd?
A sub-category/ complication of GBS.
Classic triad of,
1. Areflexia
2. Ataxia
3. External ophthalmoplegia (CN 6 Affected)
69
# Guillain-Barre Xd (GBS)
Prognosis
80% complete recovery in 3-6M.
Some go into chronic demyelinating polyneuropathy.
Some may die.
Some may have residual neruological manifestations/ death.
70
# Muscular Dystrophies
Types
A group of inherited disorders with muscle degeneration, often progressive.
1. Duchenne's Muscular Dystrophy (DMD)
2. Becker's Muscular Dystrophy (BMD)
3. Congenital Muscular Dystrophies - Present at birth or infancy.
71
# Duchenne's Muscular Dystrophy (DMD)
Pathophysiology
* X-linked recessive, Males are affected and females are carriers.
* Results from a deletion on the short arm of the X chromosome which codes for a protein called dystrophin, which connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane.
* When dystrophin is absent, toxins enter the cell, causing damage and necrosis.
72
# Duchenne's Muscular Dystrophy (DMD)
C/F
* Usually present by 3-5 yrs
* Have to mount stairs one by one and run slowly compared to their peers
* Gower's sign (Turn prone to rise/ climb on knees)
* Pseudohypertrophy of the calves - Muscle fibers replaced by fat and fibrous tissue.
* Children present with a waddling gait/ or language dealy.
* 1/3 affected have learning difficulties.
* By 10-14yrs they can't walk.
* By late 20's death from respiratory failure or associated cardiomyopathy.
* Scoliosis is a common complication.
* Proximal muscles are more weak than distal muscles.
73
# Duchenne's Muscular Dystrophy (DMD)
Ix
* Serum creatine phosphokinase - markedly elevated in males, mildly high in mother.
* Muscle biopsy, needle/ open - Definitive Dx
* DNA testing - to identify abnormal genes - Best Ix
* USS and MRI of muscles - used in specialist centers to Dx and monitor progress.
* EMG - Electromyogram
74
# Duchenne's Muscular Dystrophy (DMD)
Mx
Supportive - Physiotherapy, Counselling
Respiratory support
Corticosteroids - on 10days each month. Prednisone. To delay the progress/ death.
75
# Duchenne's Muscular Dystrophy (DMD)
What is the difference between DMD and BMD?
In BMD, some functional dystrophin is produced. The features are similar to DMD but clinically the disease progresses more slowly.
Less serious than DMD
Life expectancy is 40-50yrs.
76
# Bell's Palsy
What happens?
An isolated LMN paresis of the facial nerve (starts from the pons) leading to facial weakness of the Same side.
77
# Bell's Palsy
C/F
* Loss of wrinkling of forehead on the affected side.
* Poor eyelid closure in the affected side - Leads to dry eyes (Exposure keratitis)
* Deviation of the angle of mouth to the opposite side.
* Loss of nasolabial fold on the affected side - Fold between nose and mouth
* If associated with HSV (usually in adults) - painful vesicles on the tonsillar fauces and external ear, along with facial nerve paresis.
* Exclude HTN because Bell's palsy can sometimes be associated with Co-arctation of Aorta.
78
# Bell's Palsy
Causes of LMN FN palsy
* Cerebello-pontine tumors
* Middle ear infections
* Mumps (parotid problems/ surgery)
* Damage to FN during delivery - Forcep delivery, Cuts during C-section.
* Herpes infection - Ramsay-Hunt Xd
* Idiopathic
79
# Bell's Palsy
Complications
Recovery is complete in the majority of cases but may take several months.
The main complication is conjunctival infection due to incomplete eye closure on blinking. This may require eye to be protected with a patch or even tarsorrhaphy. Artifical tears can be used to keep eye wet.
80
# Bell's Palsy
Rx
* Corticosteroids to relieve edema in facial canal - Prednisone
* Aciclovir if assoicated with HSV
* Physiotherapy to improve facial muscles.
81
A child presents with mouth deviation to the R/side with loss of nasolabial fold on the L/side with the inability to fully close the L/ Eye. What's the most likely Dx?
Eye and mouth both affected - LMN
Impairment is closure of the L/ eye - Left facial nerve
Dx - Lower motor type L/ sided FN Palsy
82
A child presents with L/ sided mouth deviation with no eye involvement. What's the most likely Dx?
Only Mouth involved - UMN
Mouth deviated to the left - R/ FN
Dx - Upper motor type R/ sided FN palsy.
83
A child with deviation of mouth to a side, started having broad-based gait and tremors. What's the most likely Dx?
Broad - based gait and tremors suggests cerebellar involvement
FN palsy + cerebellar involvement - Suspect cerebello-pontine tumors.
Dx with CT/ MRI and remove tumor.
84
# Neural Tube Defects
Cause
Results from a failure of normal fusion of the neural plate to form the neural tube during the first 28 days following conception.
85
# Neural Tube Defects
Types
* Anencephaly - A failure of development of most of the cranium and brain. Affected infants are stillborn or dies shortly after birth. Maximum of 1W.
* Encephalocele - An extrusion of the brain and meninges through a midline skull defect, which can be corrected surgically.
* Spina bifida occulta
* Meningocele and myelomeningocele
86
# Neural Tube Defects
Mothers of fetus with neural tube defects have a 10-fold increase in risk of having a second affected fetus. T/F?
T
87
# Neural Tube Defects
Prophylaxis
Periconceptual or preconceptual folic acid supplementation reduces the risk of neural tube defects.
High doses for women with a previously affected infant.
Low-dose for all pregnancies.
88
# Spina bifida
Cause and Presentation
* Due to failure of fusion of the vertebral arch.
* An incidental finding on X-ray.
* Maybe associated with overlying skin lesion such as a tuft of hair, lipoma, birthmark or small dermis sinus, usually in the lumbar region.
* There maybe underlying tethering of the spinal cord which, with growth, may cause neurological deficits of bladder function and lower limbs.
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# Meningocele
Cause, Presentation, Mx
Cause - Due to protrusion of meninges through a bony defect in the spinal cord.
Covered by skin.
Nerve Tissue is normal.
Surgical repair. Good prognosis.
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# Myelomeningocele
Cause, Presentation, Mx
Due to protrusion of meninges through a bony defect in the spinal cord.
No covered by skin, therefore more chance of rupture, leading to infection and meningitis.
Nerve tissue lies outside.
Maybe associated with,
* Variable paralysis of legs
* Muscle imbalance, which may cause dislocation of the hip and talipes.
* Sensory Loss of L/ limbs
* Bladder denervation (Neuropathic bladder)
* Bowel denervation (Neuropathic bowel)
* Scoliosis
* **Hydrocephalus from the Arnold-chiari malformation** (Hernation of the cerebellar tonsils and brainstem tissue through the foramen magnum), leading to the disruption of CSF Flow.
Mx -
* Early surgery to reduce chances of infection.
* Supportive Mx - physiotherapy, walking aids
* Prevention of ulcers.
* Neuropathic bladder - an indwelling catheter or intermittent urinary catheterization may be performed by parents or by older children themselves.
* Bowel denervation - requires regular toileting, laxatives and suppositories.
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# Myelomeningocele
What is the most common cause of death?
CKD
Neuropathic bladder leads to increased bladder pressure, which is transmitted to the kidney causing hydronephrosis. Which then progresses to CKD.
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# Hydrocephalus
Pathophysiology
There is an obstruction to the flow of CSF leading the dilatation of the ventricular system proximal to the site of obstruction.
The obstruction may be,
1. Within the ventricular system or aqueduct (Non-communicating or obstructive hydrocephalus) or
2. at the arachnoid villi, the site of reabsorption of CSF (communicating hydrocephalus)
3. Can also occur when CSF production is high or reabsorption is poor.
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# Hydrocephalus
Causes
Non-communicating (Obstructive)
* Congenital malformation - Aqueduct stenosis, Chiari malformation
* Posterior fossa neoplasm or vascular malformation
* Intraventricular hemorrhage in preterm infant
Communicating (Failure to reabsorb CSF)
* Sub-arachnoid hemorrhage (SAH)
* Meningitis Eg: Pneumococcal, TB
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# Hydrocephalus
Chiari malformation
Causes hydrocephalus and myelomeningocele
95
# Hydrocephalus
C/F
In infants -
* The skull sutures have not fused, therefore the head circumference maybe dispropotionately large or show an excessive rate of growth.
* The skull sutures seperate, the naterior fontanelle bulges and the scalp veins become distended.
* An advanced sign is **fixed downward gaze or sunsetting sign** of the eyes.
In older children -
* Develops signs and Sx of raised ICP.
* WHen ICP increases, BP increases. Since blood supply to the brain is obstructed, stimulation of vagus nerve. Due to dialatation of carotid body and and aortic arch it leads to bradycardia.
* Cushing signs/ reflex - due to increased ICP - HTN, Bradycardia, apnea, papilloedema
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# Hydrocephalus
Ix
Dx on antenatal USS screening or in preterm infants on routine cranial USS.
Head circumference should be monitored over time on centile charts
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# Hydrocephalus
Rx
Insertion of a ventriculoperitoneal shunt.
The shunt can get infected or blocked.
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# Hydrocephalus
10 Features to look for
Features of raised ICP,
* Sun setting sign
* Papilloedema
* HTN with bradycardia
* Examine shunt for obstruction
* Features of shunt infection - Fever
Look for associations,
* Myelomeningocele
Look for cause,
* Congenital infections - Murmurs, hepatosplenomegaly
Look for severity & complications,
* Vision
* Hearing
* Development
* Bladder & Bowel functions
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Presenting hydrocephalus after neonatal examination
On my general examination, the marked abnormality I observed was that this child's head is big. Upon examination of his head, I found that it is dispropotionate for his age. On my further examination I noticed he has dialated scalp veins, so I think the most likely reason this "insert age" has got this big head is hydrocephalus. Also he is having wide fontanelle which are bulging. My next concern was whether this hydrocephalus is obstructed. Upon careful examination I did not find any signs like sun setting sign, no papilloedema, HR and BP were normal, therefore there is no cushing's reflex. I also checked the child's shunt and its not obstructed or infected. Child is not having fever. Upon futher examination, I founf out that the child is also having a scar below the lumbar region, i consider its a repair myelomeningocele. In that case the child is having a Hx of meningocele and hydrocephalus, which means he probably got Arnold-Chiari malformation. Further I also found the child is catheterised, still there is some degree of bladder dialation and some spontaneous passage of stools as well. So I think there is some bladder and bowel involvement too. Further I did not observe a single L/ limb movement. I'm wondering whether this child has LL paralysis as well. To complete my examination, I would like to do a full developmental examination, vision and hearing.
100
# Headache in Children
Classification
* Primary headaches -
Migraine,
Tension-type,
Cluster headache (and other trigeminal autonomic cephalalgias),
and other primary headaches (such as cough or exertional headaches)
They are though to be due to a primary malfunction of neurones
* Secondary Headaches -
Symptomatic of some underlying pathology - from rasied ICP and space-occupying lesions like a brain tumor.
* Trigeminal and other cranial neuralgias, and other headaches including root pain from herpes zoster.
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# Tension-type headache
Presentation
* Constriction band
* Symmetrical
* More towards evening
* When stressed
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# Migraine W/O Aura
Presentation
* B/L or unilateral
* Pulsatile
* GI disturbance (N, V, abdominal pain, photophobia)
* Lies in quiet, dark place
* Relieved by sleep
* Aggravated by chocolate, cheese, coffee, orgasm
* Lasts >1hr generally
* Severe headache
103
# Migraine with Aura
Presentation
* Preceded by aura - Visual, sensory or motor
* Premonitory Sx
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# Space occupying lesion
Presentation
* Headache worse when lying down or with coughing or straining - Increases ICP
* Headache wakes up child (different from headache on awakening, not uncommon in migraine)
* Associated confusion, and/ or morning or persistent N/ V (early morning headache which is releived by V)
* Recent change in personality, behavior or educational performance.
* CT/MRI might be needed
105
# Cluster headache
Presentation
* Unilateral
* Throbbing
* Lasts <15mins
* Associated tearing, sweating.
106
# Headache in Childhood
Mx
Tension headache - PCM
Migraine -
PCM, diclofenac sodium (NSAID), codeine, sumathriptan.
Prophylaxis - Proponalol, pizotifan, carbamezapine, topiramate, flunarazine
Cluster headache - Simple analgesics
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# Neuromuscular Disorders
Pathophysiology
* The spinal motor pathway deals with the transmission of nerve impulses from the anterior horn cells through the peripheral nerves via neuromuscular junctions to our muscles.
* If any of the 4 parts of this pathway is affected by a disease, its is termed NMD.
* The main C/F is weakness, which maybe progressive or static.
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# Neuromuscular Disorders - Anterior Horn cell lesion
Sx and Signs, Diseases
Signs of denervation:
* Weakness
* Areflexia
* Fasciculation and wasting of muscles
Eg:
1. Poliomyelitis
2. Spinal muscular atrophy - AR, #1 genetic killer in infants.
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# Neuromuscular Disorders - Peripheral Nerve lesion
Sx and Signs, Diseases
* Weakness
* Areflexia
* Sensory Loss
* Temperature change as nerve supply fails.
Eg:
1. Acute inflammatory demyelinating neuropathy (GBS)
2. DM
3. Bell's palsy
4. Lead poisoning
110
# Neuromuscular Disorders - Neuromuscular Junction lesion/ disorder
Sx and Signs, Diseases
* Diurnal worsening throughout the day, leading to fatiguability
Eg:
1. Myasthenia Gravis (Usually presents after 10yrs of age)
2. Botulism
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# Neuromuscular Disorders - Muscle lesion (Myopathies)
Sx and Signs, Diseases
* Weakness & wasting
* Refelxes - Intact but weak
* Changes in gait - Wadling
* Proximal Weakness > Distal
Eg:
1. Muscular dystrophy (DMD, BMD) - Gower's sign, Pseudohypertrophy of calves
2. Inflammatory - Dermatomyositis
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Child presents with fit + Fever, check-list for it to be a febrile seizure.
1. Age range 6M to 6Yrs
2. Exclude brain infections - Meningitis and encephalitis
3. Child not have Hx of afebrile seizures.
4. There should not be any other explanation for seizure - Eg: hypoglycemia
5. FHx of febrile convulsions
About 30-40% will have further febrile seizures.
113
# Febrile Seizures
Differentiate whether seizure it due to fever or a brain infection
If child is ill-looking, lethargic in between episodes of fever, its more likely to be a brain infection.
114
# Febrile Seizures
Types
1. Simple
2. Complex
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# Simple Febrile Seizures
C/F
* Generalized - Always B/L
* <15mins
* Only one episode/ day
* Do not cause brain damage
* Risk of subsequent epilepsy is the same as for all children (1 - 2%)
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# Complex Febrile Seizures
C/F
* Generalized or focal seizures
* Can last for >15mins
* Multiple episodes can happen
* May cause residual damage
* Increased risk of subsequent epilepsy (4 - 12%, average 10%)
* Temporal lobe epilepsy commonly
To dx as complex, one feature is enough.
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# Febrile Seizures
Mx
* Seizure Mx in acute setting - L/ lateral position, suck out secretions, O2, glucose
* Reassurance of parents
* No need of EEG
* Parents should be adviced to not put anything in child's mouth during an episode.
* If seizure doesn't settle within 5mins, parents should be advised to bring the child to the hospital immediately.
* **Long term antiepileptics are not needed.**
* **Lumbar Puncture, EEG not needed.**
* Antiepileptics can only be given during fever days - to prevent the child from getting seiures - Clobazam.
* PCM does not decrease the chance of getting febrile seizures - Febrile seizures occur due to fluctuations in temperature, PCM causes a drop in temp. which is a fluctuation.
* Sponging child is not useful or harmful.
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# Febrile Seizures
Prognosis
* Most of the time recovers/ gets over with arounf 6yrs of age.
* Around 2% chance to get in case of simple
* Around 10% chance to get in case of complex.
* Generally doesn't cause education problems.
* There is a chance of other children in the family getting.
