Vignettes Pediatric Neurology # 1

1. Benign Neonatal Seizures:

Begin D2- 5 after birth in a neurologically normal baby. Short tonic, clonic, or apneic seizures. Prognosis generally good, but 15 %of pts develop epilepsy in the future. PiR

NB: Familial neonatal seizures: begin D2- 3

2. Infantile Spasms:

a] Typical age of onset: 5- 12 months

b] Symmetric, brief, and sudden contractions of the axial muscle groups.
Spasms tend to occur in clusters soon after awakening or on falling asleep.
Precipitating factors: loud noise, tactile stimuli. However, not photo stimuli.
Freq: few to several hundreds a day.

c] EEG: Hypsarrythmia. It is profoundly disorganized background of high- amplitude waves and multifocal spikes.

d] IS is classified as Symptomatic and Idiopathic.

Symptomatic group: example tuberous sclerosis.

It is crucial to exclude tuberous sclerosis in a pt of IS as this is the single most cause of IS.

e] Rx: Vigabatrin (not available in USA), or ACTH.
Steroids will be second line of drugs.
However, ACTH one vial costs $ 25 K, thus I have seen pts being treated with steriods as vigabatrin is also not available in usa.

f] Prognosis:
* Early control of spasms with meds is assoc with a better cognitive outcome.
* Without T/t: spont resolution of spasms by 3 yrs of age.
* However as many as 60 % pts of IS develop other seizure types and epileptic syndromes, such as LG syndrome.

3. Rolandic epilepsy:

Benign partial epilepsy with centro-temporal spikes on EEG. Most common partial epilepsy syndrome in children. 3- 13 yrs age, presents with tonic or clonic activity and paresthesias of the lower face which often are unilateral and assoc with drooling and dysarthria. Sz are infrequent, commonly occur nocturnally and rarely become 2 generalized.
Thus remember 3 things: i) Face seizures, ii) Sensory component (tongue paraesthesias), and iii) often occur in sleep.


4.LG (Lennox- Gastaut) Syndrome:
Triad of: 1] Multiple types of generalized seizures esp absence seizures and tonic and atonoc sz, 2] mental retardation, and 3] diffuse slow spkies and waves on EEG.
Age of onset 2- 8 yrs.
The disorder can be : symptomatic (70 %) or idiopathic
Indeed in symptomatic category, 33 % pts have had IS.

Poor prognosis. With age, intelligent quotient tends to deteriorate.

5. Classification of Seizures:

A] Partial/Focal
Simple partial
Cx partial
Partial sz with 2nd generalization

B] Generalized Sz

Absence: a] typical b] atypical
Tonic
Clonic
TC
Myoclonic
Atonic

6. Major Focal/partial epilespies:

a] Rolandic/ benign partial epilepsy with centro-temporal spikes: commonest partail epilespy syndrome in kids. Deatils in dictionary

b] Temporal lobe epilepsy:


i) Generally begins with partial sz in childhood, then sz-free prd and then recurrence of seizures in adolescence.
ii) A h/o febrile sz (mostly atypical) is found in 35 % pts who have intractable TLE.
iii) Sz frequently preceded by an aura: epigatric discomfort, deja vu ( already seen), deja entendu (already heard), psychic sx or automatism.

c] Frontal lobe E:

jacksonian motor sz (the spread of clonic movements that progress along the contiguous body parts in a pattern corresponding to the body representation on the primary motor strip) may be seen.
Todd paralysis is sometimes noted.

d] Parietal lobe E:

somatosensory sx such as paresthesias, apraxia, distortion of body image are common.
receptive aphasia can occur.

e] Occipital Lobe E:

visual sx such as patterns or flashes of light or colors. Contralateral eye deviation and ictal blindness is also described.

7. Major Generalized Idiopathic epileptic syndromes:

i) Neonatal benign idiopathic sz.

ii) Absence seizures
iii) Juvenile myoclonic epilespy (Janz syndrome): see peds diction

8] Major Generalized symptomatic epilepsies syndromes:

i) Febrile sz
ii) Infantile spasms (West Syndrome): see peds diction
iii) LG syndrome (Lennox Gastaut ): see peds diction

9. EEG and patterns:

Very typical are:

Infantile spasms: Hypsarrythmia
Absence Sz: 3 per second spikes and waves (also called 3-Hz spikes and waves)
Because 1 Hz = 1 second

Also these patterns are mentioned in literature:






i) Burst suppression is seen in neonatal period
ii) Janz syndrome: "4 to 6- Hz polyspikes and spike-and-wave epileptic discharges with normal background of activity".
iii) Rolandic epilepsy: Centro-temporal high volatage spike discharges.

10. IV Fos-phenytoin: LYWB

Is a pro-drug (inactive precursor)
Less likely to produce skin-necrosis (purple glove syndrome) seen with phenytoin.

11. AED:

Tegretol: carbamazepine CT
Depakene/ depacon: Valproic acid DeV
Trileptal: Oxcarbezepine TriOx
Topamax: Topiramate
Keppra: Leve- titracetam ( Ke le)
Lamictal: Lamotrigine

Classically, valproic acid was considered the DOC for generalized epilepsies/seizures, whereas carbamazepine for partial Sz.
In light of newer AEDs, the things are changing however.

All newer AEDs are for partial seizures: this is easy to remember. However, they are also being started to be used for genearlizes sz.

Also note:

i) Valproic acid not used < 2 yrs age as it is very hepato-toxic.
ii) Carbamazepine can worsen generaized sz if used.
iii) Valproic acid is a "broad spectrum AED" amongst older AEDs, whereas Keppra is the one amongst newer meds. If a pt has a mixed kind of seizures (focal as well as generalized), these 2 meds are good choices. which one? Well, valproic acid causes wt gain, thus in girls, this may be an issue.

12. AEDs and ADRs:

Lamictal: Rash (even Stevens Johnson syndrome)
Topiramate: renal stones (cap/topi on renals which are cap like structures)
Keppra: behavioral changes (even hallucinations)

13. Benign/idiopathic neonatal seizures (onset D2- 5):
As many as 15 % pts may develop epilepsies in the future.

14. Neuro-imaging (example in a pt with epilepsy):


a] Structural neuro-imaging: CT Vs MRI of brain
PiR says: " Due to higher resolution, MRI is now the gold standard for neuro-imaging evaluation of epilepsy. CT brain is reserved for cases when MRI is not available".

Also not another observation:
For focal seizures: brain imaging is recommended. For generalized Sz, routine brain imaging not required.

b) Functional neuro-imaging:

SPECT, PET and f-MRI (f = functional)
f-MRI records blood oxygenation variation in different brain regions.


14. Q 103- 06
After a year-long history of twitching upon waking, a 16-year-old girl experiences a generalized tonic-clonic seizure. Subsequent electroencephalography demonstrates 4 to 5 cycle per second generalized polyspike and wave; myoclonic seizures occur with photic stimulation.

= This is juvenile myoclonic epilepsy (myoclonic epilepsy of Janz)

NB: Life-long valproic acid treatment is required. Remember this.

15. What life style precautions you will give to a kid with Sz disorder?

Parents should be encouraged to treat their child as normally as possible, with limited restrictions.
i) Patients can bathe in a tub or swim, but they must be monitored by an adult.

ii) Children who reach driving age can obtain a license and drive unaccompanied, even if receiving an antiepileptic drug, once seizures are controlled for 3 to 12 months, according to an individual state's driving laws.

iii)Girls who are sexually active should be counseled about the risk of fetal malformations associated with almost any anticonvulsant, particularly neural tube defects related to valproic acid or carbamazepine.

16. Q 119/06
A father brings his 6-year-old daughter to you because her teacher has observed multiple, daily episodes in which the child stares and is unresponsive to verbal cues. The teacher also has noted facial twitching with some of these several-second events. Results of physical examination of the girl are normal.
What med to start?

Answer is Ethosuximide
It is Petit mal or Absence seizures. Hence Ethosuximide is the DOC

NB: Do not be mistaken by facial twitchings. The later may entice you to make a dx of Cx partial seizures which is the commonst DD of absence seizures.
Infact, this description is for Atypical Absence seizures (in typical variant, only absence spells occur).

Let us talk about absence seizures a bit now:

i) Age of onset: around age 5 - 6 years.

ii) Is characterized by 5- to 20-second lapses in consciousness many times per day, sometimes with fluttering of the eyelids.
No aura or postictal state occurs with these seizures, and spells can be provoked by hyperventilation or photic stimulation.

iv) EEG: frequent 3 per second generalized spike and wave activity.

v) Rx: ethosuximide or alternatively with valproic acid or lamotrigine.
Carbamazepine exacerbates the seizures.

vi) In approxtwo thirds or more of affected children, absence seizures resolve after several years, and antiepileptic drugs no longer are required.

NB: In some instances, atypical absence seizures resemble complex partial seizures. Atypical absence seizures are minor variants of typical absence events that are characterized by face or body myoclonus, sometimes automatisms, or rarely, falling. Our case in vignette has atypical absence sz.

Cx Partial Epilepsy:

Atypical absence seizures should not be mistaken for complex partial seizures.
In Cx Partial Sx:

i) spells that usually are longer than 30 seconds occur only once or twice daily at most.
ii) May be associated with an aura, and automatisms are common.
iii) usually are not induced by photic stimulation.
iv) EEG: focal epileptiform discharges or spikes, often in the temporal lobe.

17. AEDs and OCPs:

A 16 y.o gilr with seizure disorder is on phenytoin. She needs to be prescribed OCPs now. q 88/08

= The estrogen dose in OCP should be higher than the usually prescribed.

NB: These antiepileptic drugs (AEDs) induce the cytochrome P450 hepatic enzyme pathway: phenobarbital, primidone, hydantoin, carbamazepine, oxcarbazepine.

Such induction increases the metabolic rate of estrogen and the progestogens, potentially lowering serum concentrations of these hormones by 50% or more.










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61. Maternal pre-eclampsia decreases the risk for Cerebral palsy. (LYWB)

62. Wilson disease:
Since ceruloplasmin is the carrier and the carrier is busy transporting Cu to the tissues from blood: serum ceruloplasmin and serum Cu levels are low. Urinary excretion of Cu is increased.

63. Question 39/2006
A 6-year-old girl is brought to your office for clumsy gait of 3 days' duration. On physical examination, she is afebrile and ataxic. She has a full right facial palsy. Deep tendon reflexes are hard to elicit at the knees and absent at the ankles. Results of her examination are otherwise normal.

If u care, this is GBS, man! ( May be Miller fischer, i think).

Next step is : LP (not CT as it is LMN issue). LP will help find albumino-cytological dissociation.

As Prep explains: "The ataxia plus areflexia reported for the girl in the vignette, paired with a facial palsy, are virtually pathognomonic for Guillain-Barré syndrome. The pain, loss of motor function, and altered sensation stem from demyelination of nerve roots. Lumbar puncture will reveal albuminocytologic dissociation, with an increase in protein and no pleocytosis.'

64. causes of pseudotumor cerebri :
**More frequently:

More frequently in children, the disorder can be associated with obesity or drugs (isotretinoin and other retinoids, tetracycline, minocycline, corticosteroids, nalidixic acid, nitrofurantoin, oral contraceptives).



**Also these are other causes:

Metabolic disorders (hyper- or hypovitaminosis A, Addison disease, hypoparathyroidism, pseudohypoparathyroidism),

hematologic disorders (iron deficiency, polycythemia),

infections (otitis media and mastoiditis),

systemic lupus erythematosus, and

pregnancy all can lead to pseudotumor cerebri.



NB: Steroids can cause PT cerebri and also are used to treat it.



65. A 12-year-old girl presents with paraparesis progressing over 2 days along with urinary incontinence and constipation. She complains of constant, dull lower back pain. On physical examination, the child cannot move her lower extremities and has brisk knee and ankle deep tendon reflexes. She has loss of pain sensation below dermatome T10.

Of the following, the test MOST likely to lead to this child's diagnosis is: MRI spine






You are dealing with Transverse myelitis. This is a BOARD Q: Do not forget this scenario.


A complaint of back pain is uncommon in childhood and should be evaluated carefully, especially when there are accompanying neurologic signs, such as weakness, sensory changes, or bowel or bladder disturbances, as reported for the girl in the vignette.
Diagnoses to consider include spinal cord tumors, epidural abscess, diskitis, trauma, transverse myelitis, arteriovenous malformation, or Guillain-Barré syndrome.

MRI of the spine is the most useful test to help distinguish these disorders and should be obtained urgently to exclude the possibility of tumor and spinal cord compression.
LP is obtained next if results of the spine MRI are normal or a lesion is seen that is suspicious for transverse myelitis.

66. Transverse myelitis

i) is an acute disorder of lower extremity weakness and sensory loss that results from lymphocytic infiltration and focal demyelination, most often in the thoracic spinal cord. This myelitis frequently is postinfectious, preceded a day or two by fever and malaise, and triggered by Epstein-Barr virus, herpes simplex virus, influenza, mumps, rubella, or varicella.

ii) In the natural history of transverse myelitis, the flaccid weakness and areflexia evolve over several days, plateau, and then progress to spasticity and hyperreflexia, along with bowel and bladder dysfunction and sensory disturbances.
iii) Dx: MRI spine reveals fusiform swelling (Item C71A) of the spinal cord in the affected region, with focal bright signal on T2-weighted images. Subsequent lumbar puncture shows moderate lymphocytic pleocytosis, with a normal or mildly elevated protein concentration.

iv) Whether corticosteroids improve or hasten the outcome is controversial. Complete spontaneous recovery occurs in perhaps two thirds of patients, yet some children have residual bowel and bladder dysfunction, and a few have lasting weakness.

NB: Just to remind you: This is UMN lesion.


67. A 14 yrs comes to ER with sudden onset headache which she says is 'worst headache of my life': SAH.



68.Q 55/08
During the health supervision visit of a 10-year-old boy, you note some wasting and weakness of his lower leg muscles, with diminished patellar and ankle reflexes. You examine his parents' legs and feet and notice that his mother has a bilateral foot drop and deformed feet.
Of the following, the MOST likely diagnosis is:



Among the choices, hereditary sensorimotor neuropathy is the answer.



NB: Guillain Barre syndrome is precisely called acute inflammatory demyelinating polyneuropathy (AIDP). The ch form will become CIDP. The way, the vignette is framed, GBS or its ch form is not the likely answer.



Now let us focus on hereditary sensorimotor neuropathy.
Peripheral neuropathy is of various forms: Aquired and hereditary. Causes are legion as u know.




However, in the vignette, the presence of similar but more advanced symptoms in the mother (deformed foot with "hammer toes" - high-arched, flexed toes) supports a diagnosis of autosomal dominant hereditary sensorimotor neuropathy (eg, Charcot Marie Tooth disease).

A large number of genes and loci have been identified for various forms of hereditary sensorimotor neuropathy. Referral to a neurologist, particularly one specializing in neuromuscular diseases, is recommended.





69. Question 71/08
A 5-year-old girl presents with leg weakness of 12 hours' duration. She is afebrile and describes no pain in her back or elsewhere. Findings on physical examination include distal leg weakness and diminished reflexes in the legs. Finger-to-nose testing reveals slight dysmetria. Rectal tone is normal. You find an engorged tick on her occipital scalp.

Of the following, the MOST likely diagnosis is:
Tick paralysis.

Prep adds:

i) The findings of weakness, reduced reflexes, and mild ataxia (finger-to-nose dysmetria) are nonspecific, but in the presence of a tick, strongly suggest the diagnosis of tick paralysis.

ii) The presence of dysmetria and the absence of bowel or bladder symptoms for this girl make the diagnosis of trans myelitis unlikely.

70. V P Shunt:

i) Most shunt infections arise from CONS in the first 3 months after surgical placement.
ii) Children with shunts do not require antibiotic prophylaxis before dental or other surgical procedures, and they do not require special head gear.

70. Meningo-Meningocele (MMC) and other malformations:

A newborn is born with MMC: Evaluate him or her:

i ) Careul physical examination:
with attention to the infant's most immediate medical needs.
Because myelomeningocele can be a part of multiple congenital anomaly syndromes, it is important to evaluate the infant for the presence of dysmorphic features and to be alert for evidence of other organ anomalies.

ii) CNS:Most infants who have myelomeningocele have Chiari II malformation and hydrocephalus. Therefore, head imaging is important in the neonatal period, with subsequent ventricular peritoneal shunt placement as deemed necessary.

iii) Genito-urinary:

Infants who have myelomeningocele present with a spectrum of neurologic dysfunctions that can have a significant impact on urinary tract function.

Initial evaluation of the urinary tract : Renal US and VCUG.

Measurement of postvoid residual and serum creatinine as well as urinalysis can be obtained to direct treatment and intervention.

It is especially important to drain the bladder to avoid congestion of the upper urinary tract. Although some affected infants may void spontaneously, it may be necessary to perform a Credé maneuver to ensure bladder emptying. Urethral dilatation may be helpful for some or it may be determined that intermittent catheterization is necessary. For others, a vesicostomy may be recommended.

Infants who have normal findings on renal ultrasonography and VCUG, a low postvoid residual, and a normal creatinine value may be allowed to void spontaneously. However, it is important to monitor such infants because of their increased risk for future bladder dysfunction and for urinary tract infection.

Urologic follow-up should be a regular aspect of the multidisciplinary approach to the management of children who have NTDs.

iv) Orthopedic abnormalities also are common in children who have NTDs.
Spinal malformations occur in almost 100% of children who have myelomeningocele.
Hip dislocation is frequent, and severe foot deformities (Item C122B) are seen in up to 80% of affected children.

v) Eye: Such newborns are at increased risk for strabismus and should be monitored carefully for amblyopia, but ophthalmologic evaluations are not necessary during the early neonatal period. Similarly, routine echocardiography is not indicated.



71. Myelo-meningocele or spina bifida and personality:

q 92/06
Did you know that a pt with MMC or spina bifida has a characteristic personality? Make no mistakes, they do have.

i) First a refresher:
Spina bifida, or myelomeningocele, results from the incomplete closure of the vertebral arches associated with protrusion of the spinal cord, meninges, or nerve roots. That is no brainer!

ii) What impact it have? Well, The defect causes sensory and motor paraplegia, hydrocephalus, Chiari malformation, and neurogenic bladder and bowel. So make a note of Chiari, boy!
Along with, they have a personality too!

iii) The personality is:
IQ: low-to-average; with strengths in verbal IQ and weaknesses in performance IQ.
They are described as gregarious and chatty, frequently using memorized phrases. They also frequently are described as stubborn and mentally inflexible, which can lead to difficulties in school and labeling of the children as difficult and argumentative.

Children who have spina bifida often do well during their preschool years because of their apparent good verbal skills. They subsequently begin to have difficulty in third or fourth grade, as reported for the boy in the vignette, because of increasing academic expectations. They have trouble with organization, memory, and comprehension of abstract concepts. They often have difficulty completing projects and book reports that require planning. Adolescents may not have good personal hygiene and often do not follow through with activities or hobbies, even those in which they describe great interest. As adults, they have difficulty maintaining a vocation and often require social supports to achieve independent living.

72. q 135/06 A 4-year-old boy presents with abrupt onset of lt hemiparesis. The child has a h/o SNHL of unknown cause. Physical examination confirms the left hemiparesis, but also shows a left hemianopsia. Urgent computed tomography of the head shows a large infarction, mostly in the territory of the right middle cerebral artery. The child's lactate level is elevated at 3.7 mmol/L.

Ans: Do molecular analysis of mitochondrial DNA

Because this is a mitochondrial disorder.
The deafness and elevated lactate level reported for the boy in the vignette are both characteristic of a mitochondrial disorder. I think, it is MELAS

The causes of stroke in children are distinct from and less common than those in adults. Ultimately only three processes result in stroke: thrombosis, embolism, and hemorrhage.

73. Guillain-Barré syndrome follows Campylobacter jejuni gastroenteritis, but serologic or stool testing for this organism does not alter the course of treatment.

Rx: IV immunoglobulin or alternatively, plasmapheresis.

NB: Acute intermittent porphyria : determination of urine porphobilinogen establishes that diagnosis.


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80- 100 : Headache

80. Question 38/07
A 12-year-old girl presents with her third headache in the last 2 months. She describes the pain as pounding, sharp, and severe. The pain is bifrontal and has been present for 1 hour. Past history is notable for motion sickness at age 4 years. Physical examination results are normal, but the girl draws a picture of dots when asked if she sees anything prior to pain.

Of the following, the MOST appropriate treatment for this child is:

Correct: Oral ibuprofen

Wrong choices: Oral zolmi-triptan; SQ sumatriptan; IM meperidine ; intranasal butorphanol

i) This is migraine with aura, ie, classic migraine.
The dots she sees are likely scintillating scotomas.

ii) Rx:

A recent practice parameter, endorsed by the AAP, reviewed drug treatments for acute headache and found convincing data to support the use of acetaminophen (15 mg/kg orally), ibuprofen (10 mg/kg orally), or nasal sumatriptan (20 mg if body mass is 30 kg or more; 5 mg if less than 30 kg).

Daily prophylactic medications, such as amitriptyline, topiramate, cyproheptadine, or valproic acid, are indicated only for the child who has several disabling migraines every month.

Evidence to support the use of sq sumatriptan or oral zolmitriptan in children is limited at this time.

Intramuscular meperidine and intranasal butorphanol are both narcotics that have addictive potential and are not indicated for treatment of childhood migraine.


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101. Question 70/07


A 2-year-old girl is rushed by ambulance to ER for sudden-onset ataxia. Her parents have yet to arrive. On physical examination, the girl is afebrile, yet diaphoretic, with some nystagmus on far lateral gaze. Her ataxia has resolved. The remainder of physical examination findings are normal.

Of the following, the MOST likely diagnosis for this child is:

True: benign paroxysmal vertigo
False: Phenytoin toxicity

i) BPV: Typically, the sudden and self-limited ataxia with nystagmus, but without vomiting or loss of consciousness, followed by some residual horizontal nystagmus.

ii) Benign paroxysmal vertigo is characterized by abrupt, brief episodes of vertigo with ataxia in children ages 1 to 3 years.

The child may appear frightened, have pallor, and may indicate feeling dizzy. Rapid eye movements or nystagmus may be observed if the eyes are open.

NB: Benign paroxysmal vertigo is believed to be a migraine variant.

Why not phenytoin toxicity?: The spontaneous and rapid resolution of her symptoms excludes cerebellar hemorrhage and phenytoin intoxication.

Since we are talking about vertigo, let us make some more observations:

Acute vertigo lasting hours to days accompanied by hearing loss may be due to:

Ac labyrinthitis, otitis media, perilymphatic fistula, temporal bone fracture, and Ménière disease.

Ménière disease is a recurrent disorder that involves tinnitus and progressive hearing loss.

102. Question 230/07
A 4-year-old girl remains intubated, mechanically ventilated, and completely unresponsive in the ICU following a massive SAH of unknown cause. She is hemodynamically stable and not receiving any sedating medications. temp is 98.1°F and no e/o infection. The girl has not exhibited any brainstem or cerebral function for more than 24 hours.

Of the following, the statement you are MOST likely to make:

T = a nuclear medicine blood flow study is the best method to determine whether the girl is brain dead

F = no further testing is indicated because this child is brain dead

F = EEG must be performed to ascertain whether this girl is dead

Read the theory now:

Brain death is = cardiorespiratory death, and a child is legally dead at the time the criteria for brain death are fulfilled.


Clinical criteria for BD include a known, irreversible cause

+
complete absence of cerebral and brainstem function for more than 12 hours (for children older than 1 year) determined by at least two physicians.

Plus:
i) The patient must be normothermic and normotensive,
ii) There must be no toxins, drugs, or metabolic disorders present that could obscure neurologic examination findings.

Now how to confirm absence of brainstem function?

= is confirmed by physical findings obviously + an apnea test, with PaCO2 > 60 mm Hg rising by at least 20 mm Hg over 8 to 10 minutes while the patient receives 100% oxygen.

So why do we need additional testing?
Such flow studies may be helpful when facial injury precludes examination or there is difficulty establishing a known cause, as in the vignette.

a] EEG: Electrocerebral silence is consistent with but not pathognomonic for brain death.
b] A cerebral radionuclide scan or conventional angiography showing complete absence of blood flow in the vertebral and carotid arteries is pathognomonic for brain death.

NB: Without further evaluation, the 4-year-old child described here cannot be declared brain dead yet by current criteria because the cause of her subarachnoid hemorrhage is unknown.
A nuclear medicine blood flow study can document brain death by demonstrating no blood flow in the intracranial major arteries.

103.