PEDIATRIC NEUROLOGY😊

Neural Tube Defects

• Most common congenital abnormality of neurologic system in children.

• Types
• Cranial + Caudal defect:
• Craniorachischisis
• Caudal defects:
• Meningocele,
• Meningomyelocele
• Cranial defects:
• Anencephaly
• Encephalocele (Herniation of brain tissue through a small defect covered by scalp, hair and meninges)

Diagnosis:

• Antenatal USG: Can pick up large NT defects.

• Maternal serum or Amniotic fluid markers.

• α-fetoprotein levels or Acetylcholinesterase levels.

• Neuroimaging to know extent

Anencephaly

• Failure of closure of the rostral or anterior neuropore
• By 4 weeks of life
• (the opening of the anterior neural tube).

• Brain tissue exposed to external environment

• Earliest anomaly detected on USG.

• Presents with Frog Eye Sign.

• Open calvarium is present.

• MTP needed.

Meningocele Vs Meningomyelocele

Myelomeningocele: (a type of spina bifida).

• Basic defect:
• Protrusion of neural components
• along with a sac formed by meninges
• through a midline vertebral defect.

• Spinal part and nerve roots present in sac.

• Black nerve roots seen going with the sac.

• Myelomeningocele pull downwards causing:
• Lemon Sign:
• frontal bones become concave.
• Banana sign:
• cerebellum becomes curved.

Meningocele:

• Herniation of meninges +/- brain tissue (meningoencephalocele) into the nasal cavity.

• Improper bone fusion during development creates a gap for herniation.

• Bones of nose roof:

Position	Bone
Anteriorly	Frontal bone
Middle	Cribriform plate
Posteriorly	Sphenoid bone

• Swelling is soft.

• Compressibility test: Positive.

• Reducibility test: Positive.

• Cough impulse test: Positive.
• Furstenberg test + → Cry/cough → ↑ Mass size
• Frustration - cry

• Transillumination test: Positive.

On spine

• On T1, appears dark.

• On T2, appears uniformly white.

• There is a protrusion of a meninges sac
• containing only clear fluid
• no neural components.

• Treatment:
• Excision of herniated mass.
• Reconstruction of defect.

Feature	Meningocele	Glioma	Dermoid
Cause	Improper fusion of bones of base of skull or roof of nasal cavity	No fusion → herniation → delayed fusion	Hamartoma: A congenital anomaly at line of bone fusion.
Consistency of swelling	Soft / Cystic	Firm	Variable
Compressibility test	Positive	Negative	Positive D- Compressible
Reducibility test	Positive	Negative	Negative
Cough impulse test	Positive	Negative	Negative
Transillumination test	Positive	Negative	Negative
Treatment	Excision + Reconstruction	Excision	Excision

 

Myelography

• Contrast given in subarachnoid space.

• Appears as white contrast surrounding spinal cord.

• Contrast can also appear black.

• CT Myelogram
• Shows white contrast.

• MR Myelogram
• Does not show white bone.
• Is a T2 weighted MRI.
• Useful to see CSF.

STIR

• T2 (-) Fat

• For bone marrow edema

Prevention of Neural Tube Defects:

• Folic Acid Supplementation:
• 400 µg/day in all women of childbearing age.
• 4000 µg/day in high-risk women.
• Started at least one month before conception.
• Decrease risk of neural tube defects by 70%.

Folic Acid in Pregnancy

• 400 mcg/day
• All females → prevention
• Diabetic
• On anti epileptic → before conception

• 1 mg/day
• Treat folic acid deficiency

• 4 mg/day
• Prev h/o NTD
• Antiepileptic → after conception

• 5 mg/day
• Thalassemia or thalassemia trait.
• Sickle cell anemia

• To prevent NTD:
• 400 mcg/day given to all pregnant females
• Start 1 month before conception
• Continue till 3 months after conception

• To prevent recurrence of NTD:
• 4 mg/day given to females with h/o baby with NTD
• Start 3 months before conception
• Or from day a female plans pregnancy
• Continue 3 months after conception

• To treat folic acid deficiency: 1 mg/day

• In diabetic patients who are pregnant: 400 mcg/day

• In patients on antiepileptic:
• Before conception: 400 mcg/day
• After conception: 4 mg/day

Important Information on Seizure Types

• Most common type of seizures in neonates: Subtle Seizures.

• Most common type of seizures in a child: Febrile Seizures.

• Most common type of epilepsy in a child: Benign Rolandic Epilepsy.

• Most common type of epilepsy in adults: GTCS.

Subtle Seizure

• Most common type of seizure in neonates.

• There will be no convulsions, only jitteriness is seen like tremors of lips and fingers.

• Convulsions are not seen in neonates as CNS is not fully developed in neonates.

Benign Rolandic Epilepsy

• It is the most common type of epilepsy seen in children.

• It is a focal seizure.

• An uncontrollable twitching on one side of the face and drooling of saliva occurs.

• Mother may give a similar history of saliva staining of pillow & may fail to notice episodes that occur during sleep.

West Syndrome/ Infantile Spasm/ Salaam Seizures

• It is seen in infants (<1 years age).

• Triad
1. Infantile spasms (Salaam Attacks/flexor spasms).
2. Global developmental delay.
3. Hypsarrhythmia (on EEG).

EEG Findings

• Hypsarrhythmia: Chaotic pattern is seen.

• High amplitude polyspikes are seen.

• Frequency is low (delta grade).

• CRH (Corticotropic Releasing hormone) is involved

Management

• Inj. ACTH (it downgrades the CRH).
• INICET → Steroids

• VIGABATRIN: Tuberous sclerosis.

Important Information:

• Various drugs of choice in pediatric neurological conditions:
• Absence seizures: Valproate/Ethosuximide
• Juvenile myoclonic epilepsy: Valproate
• West syndrome: Inj. ACTH
• Infantile spasms in Tuberous sclerosis: Vigabatrine

Absence Seizures / Petit Mal Epilepsy

• Characterized by vacant staring spells followed by blinking episodes.

• No tonus or clonus will be present.

• Seen in the pediatric age group.

• No tonic or clonic phase.

• Vacant staring spells are seen in children
• (The child is called a daydreamer/absent-minded by parents).

• Exacerbated by Hyperventilation

• Blinking of eyes seen during the episode.

• Seizure episodes can occur several times a day.

• No post-ictal deficit is seen.

• The child is unresponsive during the episode, but the postural tone is maintained.

• Absence seizures can be triggered by hyperventilation or bright light (photic stimulation).

• EEG shows a 3/sec spike and slow wave pattern.

Treatment

• Valproate.

• Ethosuximide is used in children less than 5 years old as valproate may cause hepatotoxicity.

SSPE (Sub Acute Sclerosing Panencephalitis)

• Rare, fatal neurodegenerative complication of measles

• Appears 8 to 10 years after initial infection

• Virus crosses blood brain barrier and causes neurodegeneration.

CF:

• 8 years old unimmunized Previously child was completely normal
• Now presents with not able to understand things taught in school.
• Scholastic performance of child keeps on decreasing

• EEG shows burst suppression
• periods of high-voltage electrical activity
• alternating with periods of low-voltage activity
• Also seen in HIE stage 3

Investigation

• Diagnosis:
• CSF and Blood anti-measles antibody is done.

Neurological progression:

• Myoclonic jerks

• Sudden falls

• Choreoathetosis

• Dystonia

• Rigidity

• Course: Progressive downhill

Treatment

• No effective treatment currently available

JANZ Syndrome/ Juvenile Myoclonic Epilepsy

• Genes Associated
• GABRA-1 (GABA receptor),
• CACNB (calcium receptor genes)
• CASR (cal sensing receptor)
• Mnemonic: Janzi → Gabri (GABRA 1) kk Cash (CASR) illathapo → Seizure vann

• Seen in adolescents of age group 10-19 years of age.

• Parents give history of recurrent slipping of things from hands of child.
• Epilepsy (myoclonic)

• Early morning hours

• Due to sleep deprivation

• Later myoclonic + GTCS/absence seizures

• Good prognosis

EEG Finding

• 4-6 polyspike pattern.

• More chances of developing GTCS in later years of life.

Treatment

• Sodium valproate

Meningitis cause in Neonates

• Escherichia coli (most common)
• 0 - 2 months

• Group B Streptococcus (most common)
• > 2 months

• Listeria monocytogenes
• PALCAM media,
• tumbling motility
• treat with ampicillin

Meningitis cause in Children, Adults, and Elderly

• Streptococcus pneumoniae (most common)

• Neisseria meningitidis (meningococcus)

• Haemophilus influenzae type B (Hib)
• risk of deafness if no Hib vaccine

Clinical features

• Fever.

• Headache.

• Seizures.

• Nuchal rigidity.

• Vomiting (if ICP is raised).

• Sleepiness, irritability.

• Delirium (if undiagnosed).

• Focal neurological signs may be seen.

• Altered sensorium/encephalopathy.

• Anorexia.

• Infant:
• Non-specific features:
• Poor feeding.
• Lethargy.
• Irritability with shrill cry.
• Petechiae.
• Purpura.

• Older children (12-18 months of age:):
• headache.
• Photophobia.
• Myalgia & arthralgia.
• Blurring of vision.
• Diplopia.

Signs of meningeal irritation

• Neck rigidity.

• Meningeal signs:
• Kernig's sign,
• Brudzinski' sign.

• Younger infants:
• Tense Bulging fontanelle.
• Widening of sutures.

Examination

• AMOSS sign/Tripod sign.

• Nuchal rigidity:
• Ask patient to touch chin to chest.

• Kernig sign:
• Mnemonic: Knee extension → Kernig
• Supine, extend leg at knee (pain in hamstrings or back).

• Brudzinski sign
• Neck flexion
• passive flexion of hip and knee,

• Jolt accentuation test:
• Turn head side-to-side rapidly; increases pain.
• False positives in headache patients.

Fundus examination:

• Papilledema.

Workup

• Blood culture for hematogenous spread.

• Start empirical antibiotics within 1 hour.
• Does not affect CSF findings.

• NCCT done before LP
• exclude raised ICP/midline shift.

Treatment:

• Isolate Till 24 hours after starting antibiotics

• Prompt initiation of empirical antibiotics.

• IV 3rd gen. cephalosporin (ceftriaxone)
• Child: 7-10 days
• Neonate: 3 weeks
• No response in 48 hours
• Add vancomycin

• Steroids Along with first dose of IV antibiotics.
• DOC : Dexamethasone x 2 days
• goal : ↓↓ incidence of SNHL.

• Duration
• Streptococcal meningitis:
• 7–10 days
• Gram-negative meningitis (excluding neonatal cases):
• 3 weeks
• Staphylococcal meningitis:
• 3 weeks
• Meningococcal meningitis:
• 7 days
• Prophylaxis of Meningococcal meningitis
• Ceftriaxone
• Safe in
• pregnancy
• In childrens
• Rifampicin
• Safe in childrens
• For 2 days
• Not in pregnancy
• Ciprofloxacin
• Not in
• pregnancy
• In childrens

Complication

• SNHL in Children

• Often follows S. pneumoniae-associated meningitis

• Investigation: Brain evoked response audiometry (BERA)

CASE

• Immunocompromised history ⇒
• Cryptococcosis

CASE

• Q. With immunocompromised history ⇒
• Pneumococcus if
• Diagnosis
1. Gram-positive diplococcus.
2. India ink positive.

• Treat with antibiotics.

CASE

• CSF: Cobweb coagulum.

• Diagnosis: Tubercular meningitis.

• Weeks-long history, gradual onset, hydrocephalus may occur in kids.

• CSF:
• Lymphocytic pleocytosis,
• low sugar,
• V. high protein.

• Bacterial meningitis:
• CSF
• Marked sugar drop (hypoglycorrhachia).
• Neutrophils seen.

• CSF protein:
• Normal:
• 15–45 mg%,
• in TBM:
• 10–20 × norm.

• Normal CSF sugar:
• >2/3 blood sugar.

CSF findings summary table

Vein of Galen Malformation (VOGM)

• Suspected in neonate with hydrocephalus and heart failure.

• Is an AV fistula, leading to heart failure.

AV malformation

• Bag of worms appearance.

• On angiography, entanglement of vessels seen (Nidus).

Cavernoma (Cavernous angioma)

• Popcorn appearance on MRI brain.

• NOTE on all McEwans
1. Triangle → Access to Mastoid
2. Sign on hydrocephalus → Crackpot sound on percussion
3. Alcohol → Altered constriction and dilatation of pupil

• MCEwan
• Mastoid
• Crackpot
• unEven pupils

Aqueductal Stenosis

Dandy-Walker Syndrome

Treatment of hydrocephalus:

• Acetazolamide

• VP shunt (ventrico-peritoneal shunt)
• IOC for shunt infection→ shunt TAP

• Medical management:
• Mannitol
• 3% saline/ hypertonic saline
• glycerol

Brain Death:

• Certification: Requires 2 expert physicians

• Criteria to Declare Brain Death:
• GCS = 3
• Non-reactive pupils
• Absent brainstem reflexes
• No spontaneous ventilatory effort
• Positive apnea test
• Preoxygenate with 100% O2 → Extubate
• When pCo2 >60mm → if No spontaneous effort
• Absence of confounding factors
• e.g., alcohol, drug intoxication, hypothermia

• Definition:
• Irreversible cessation of all functions of the entire brain
• including the brain stem.

• Brain Death in children is usually due to trauma or asphyxial brain injury.

Diagnosis of Brain death:

• 3 Key Components:
1. Irreversible coma with a known cause.
2. Apnea:
• Absence of respiratory efforts
• adequate stimulus (PCO2 >60 mm Hg).
3. Absence of brain stem reflexes
• light reflex,
• corneal reflex,
• gag reflex

• All must remain consistent for
• 2 observations
• observation period of 24 hrs - 48hrs.

Features incompatible with the diagnosis of brain death:

• Decerebrate/Decorticate posturing.

• Presence of seizures.

• Extensor or flexor response to painful stimulus.

NOTE:

• Loss of DTR and Loss of stretch reflex is not needed for diagnosis of brain death

• Two types: NF1, NF2.

• NF1:
• Hypertension (associated with pheochromocytoma).
• Autosomal dominant.
• Chromosome 17 defect.
• Neurological: Optic glioma.
• Cutaneous:
• 6 Café-au-lait macules (>5mm).
• Axillary/inguinal freckles.
• Pulsation of cavernous sinus is felt in eyeball (thinning of sphenoid bone).
• Lisch nodules (iris hamartoma).

• NF2:
• NF2 is located on chromosome number 22.
• Mnemonic (MISS ME):
• Multiple inherited Schwannomas
• Acoustic neuroma.
• Meningioma
• Ependymoma