Neuro

Question 1

An infant has a sacral dimple. What would make you more concerned about spinal dysraphism?
Slate-gray nevus over dimple
Located 2 cm from anal verge
3 mm in diameter
Located above the gluteal cleft

Answer 1

Located above the gluteal cleft

ess than 0.5 cm in diameter, are typically benign with little or no clinical significance. In contrast, sacral dimples that are deep and large (greater than 0.5 cm), fall within the superior portion or above the gluteal crease (>2.5 cm from the anal verge), or are associated with other cutaneous markers for NTDs (eg, hypertrichosis, and discoloration

Question 2

18 month old boy with first episode febrile seizure. What factor influences likelihood of repeat febrile seizure?

a. MRI result
b. EEG result
c. Family history of febrile seizures
d. Etiology of fever

Answer 2

family hx

Febrile seizures recur in 30% of those experiencing a first episode, 50% after 2 or more episodes, and 50% if <1 year old at onset. Several factors affect recurrence rate:
MAJOR factors
Age < 1yo
Duration of fever <24 hours (short onset between fever and seizure)
Fever 38-89 degrees Celsius (seizure occurred at lower temperature)
MINOR factors
Family history of febrile seizures
Family history of epilepsy
Complex febrile seizure
Male gender
Lower sodium at time of presentation

Question 3

11 month old baby boy is admitted because yesterday morning before breakfast he had two episodes where he “flopped back” and seemed hypotonic. This resolved. This morning after breakfast, he had another episode where he flopped back, became hypotonic, and had irregular breathing. His blood glucose is normal, as was a CBC and electrolytes. Which of the following would be next step?

a. EEG (as long as child is well)
b. Lumbar puncture
c. Pyruvate, lactate, fasting blood glucose

Answer 3

EEG

Tonic and atonic seizures are more common than, but not necessarily always associated with, Lennox-Gastaut syndrome. Atonic seizures (usually called drop attacks) consist of a sudden loss of postural tone. In some patients, the drop attacks are preceded by one or more clonic jerks. In mild forms, the child may have a brief head drop (forward flexion of head and neck)

Question 4

5 month old boy with episodes of head flexion and limb extension lasting a few seconds. His EEG shows a disorganized background with multifocal spikes. What is the most likely diagnosis?

a. Benign familial neonatal convulsions
b. Infantile spasms
c. GERD
d. Benign myoclonus

Answer 4

IS
The clinical presentation of infants ages 3 to 9 months includes spasm like seizures that involve flexion, extension, or mixed flexion-extension of the arms, legs, and trunk. The background or interictal EEG is chaotic, with a characteristic pattern called hypsarrhythmia. The classic pattern of hypsarrhythmia consists of very high voltage, random, slow waves and spikes in all cortical areas. Other interictal patterns in patients with IS include focal or multifocal spikes and sharp waves,

BFN - benign - normal EEG

Question 5

A child has symptoms suggestive of Guillain Barre syndrome and has a lumbar puncture. What are you most likely to find on the CSF?

a. High WBCs, low protein
b. High WBC, high protein
c. Low WBC, low protein
d. Low WBC, high protein

Answer 5

low WBC, high protien

Question 6

Previously healthy 2 yo presents with 2 weeks proximal muscle weakness. Most likely disorder:
congenital myopathy
neuromuscular junction
peripheral neuropathy
Spinal cord injury

Answer 6

congenital myopahty

Question 7

Newborn found to have cardiac rhabdomyoma. What syndrome is this associated with?
Tuberous Sclerosis
NF-

Answer 7

TS
need 2 major and 1 minor.
Major Features of TS
Cortical tuber
Subependymal nodule
Subependymal giant cell astrocytoma
Facial angiofibroma/forehead plaque
Ungual/periungual fibroma (non-traumatic)
Hypomelanotic macules (>3)
Shagreen patch
Multiple retinal hamartomas
Cardiac rhabdomyoma
Renal angiomyolipoma
Pulmonary lymphangioleiomyomatosis

MINOR
Cerebral white matter migration lines
Multiple dental pits
Gingival fibromas
Bone cysts
Retinal achromic patch
Confetti skin lesions
Nonrenal hamartomas
Multiple renal cysts
Hamartomous rectal polyps

Question 8

2. 	A child with epilepsy presents unwell with findings of hepatotoxicity and pancreatitis and thrombocytopenia. Which medication is this likely related to?
Valproic acid
Carbamazepine
Topiramate
Keppra

Answer 8

vpa

Nausea, vomiting, alopecia
Weight gain, metabolic syndrome
Thrombocytopenia
Hepatotoxicity, pancreatic toxicity

Question 9

Kid 4 yo comes in with torticollis and rigidity. Mom says she has been giving enema for illness for past several days but doesn’t know what it is. Which medication will you give immediately?
Diphenhydramine
Diazepam

Answer 9

Dystonic Acid-
treatment of acute dystonia with antihistamine or anticholinergic medications is usually rapidly effective [25,26]. Parenteral diphenhydramine (1 to 2 mg/kg per dose, maximum dose 50 mg) is used most frequently and typically results in resolution of an acute dystonic reaction

Question 10

7 year old migraine, 3-4 x/month. Management:
A.     	Ibuprofen as needed
B.     	Propranalol prophylaxis
C.     	Referral to neurologist
D.         Brain MRI

Answer 10

ibuprofen

then tryptan

(more than 1/week), or there is more than 1 debilitating HA per month (missing school, home or social activities), preventative prophylactic therapy is warranted. - amytryptilline

Question 11

Child with concussion. When can she return to play?
Back at school full time with no symptoms and no accommodations
After symptom free for 7 days

Answer 11

ssx free 7-10d

Question 12

Child with in-toeing and difficulty walking. What would make you suspicious that this is spastic diplegic CP?
Prematurity, global developmental delay, normal reflexes
Prematurity, delayed motor milestones, increased reflexes
Birth asphyxia, global developmental delay, normal reflexes
Birth asphyxia, delayed motor milestones, increased reflexes

Answer 12

Prematurity, delayed motor milestones, increased reflexes

Spastic diplegia is most commonly associated with premature infants with PVL. Infants with CP caused by an acute intrapartum hypoxic-ischemic event are more likely to have spastic quadriparesis or dyskinetic CP than other subtypes of CP.

Question 13

Kid presents with 3rd febrile seizure in the past month. Otherwise well, no post-ictal. What do you do?
Reassure
EEG
Admit
MRI brain

Answer 13

reassure

as long as simple
In children with complex febrile seizures, the need for an EEG depends on several factors and clinical judgement. A short, generalized seizure repeated twice in 24 hours is, by definition, complex but would not necessitate an EEG

Question 14

Young child with hypotonia, only some facial movements, no deep tendon reflexes. +Fascicultations on tongue. Parents are asking about chance of recurrence if they have more children. What do you tell them?

a) 25%
b) 50%
c) 50% if the child is male
d) Sporadic

Answer 14

25%

The cause of SMA is genetic as an autosomal recessive mendelian trait: SMN1 gene on chromosome 5q13.2

Question 15

14 year old girl with asthma has throbbing headaches associated with nausea, photophobia.  Her mother has a history of migraines.  What treatment do you offer for prophylaxis?
Amitriptyline
Propranolol 
Phenytoin
Sumatriptan - acute management
Ergotamine - acute management

Answer 15

Amitriptyline

The most commonly used preventative therapy for headache and migraine is amitriptyline.

Propranolol is contraindicated for use in children with asthma or allergic disorders (blocks action of beta agonists). It is also contraindicated in children with diabetes (can facilitate hypoglycemia). Caution should be used in adolescents as their is an increased incidence of depression.

Anticonvulsants that are used include valproic acid, topiramate, keppra, gabapentin. (NOT phenytoin)

Question 16

A 2 month old baby is floppy. He smiles and looks around, but he does not make many voluntary movements. On exam, he has no deep tendon reflexes. What is the most likely diagnosis?

a. Congenital muscular dystrophy
b. Congenital myotonic dystrophy
c. SMA

Answer 16

SMA

SMA 1 - Affected infants may appear normal before the onset of symptoms, but soon develop a severe, symmetric flaccid paralysis with absent DTRs, and never achieve the ability to sit unsupported. Because the upper cranial nerves are mostly spared, patients usually have an alert expression, furrowed brow, and normal eye movements. Weakness of the bulbar muscles results in a weak cry, poor suck and swallow reflexes, pooling of secretions, tongue fasciculations,

Question 17

A 7 yo boy has become ataxic over the last few months, gradually worsening. What is the probably diagnosis?

a. Adrenoleukodystrophy
b. Encephalitis

Answer 17

ALD - restrict VLCD
ALD is an X-linked disorder. It presents between four and eight years of age (peak seven years). Affected males have one of three main phenotypes and can present from childhood through adulthood: childhood cerebral, adrenomyeloneuropathy (20-40 yrs old), Addison only disease. Boys typically present with learning disabilities and behavior problems that are often diagnosed as attention deficit hyperactivity disorder

Question 18

A 2 month old baby has an abnormally shaped head. What would make you pursue further investigations?

a. Posterior displacement of the ipsilateral ear
b. Frontal bossing of the ipsilateral forehead

Answer 18

posterior displacement of ipsilateral

Lambdoidal craniosynostosis: Premature closure of unilateral lambdoid suture, posterior displacement and low set ipsilateral ear, contralateral frontal bossing

Question 19

18-month-old boy presents with fever, AOM, and febrile seizure. This is his third recurrent febrile seizure in the past few months. What is your next step?

a) EEG
b) CT head
c) Neuro consult
d) Reassure parents

Answer 19

reassure parents

Question 20

Teenage girl with asthma has frontal headaches associated with nausea, photophobia. Her mom has a history of migraines. What treatment do you offer for prophylaxis?

a. sumatriptan
b. propranolol
c. amitriptyline
d. Phenytoin

Answer 20

amitriptyline

Question 21

. Girl walked and tripped on a curb now has cold extremity painful to touch

a) CRPS
b) osteomyelitis

Answer 21

CRPS

Question 22

Myotonic infant with fasiculations, low reflexes. Parents wonder chance of recurrence?

a) 25% recur
b) 50%
c) 50% males
d) Sporadic

Answer 22

25% recur

Question 23

Child previously well has ascending hyporeflexia, paralysis. Cause?
a) Campylobacter

Answer 23

Guillain-Barre Syndrome (UTD)
Antecedent infections are common with GBS, and are thought to trigger the immune response that leads to acute polyneuropathy. Usually respiratory tract or gastrointestinal infections. Campylobacter infection is the most commonly identified precipitant (as many as 30 percent of cases). Others include CMV, EBV, Mycoplasma pneumoniae, and influenza-like illnesses. Typically develops 2-4 weeks after the infection.

Question 24

Brachial plexus injury-extended hand, pronated, but can grip. Which nerve roots

a) C3-C4
b) C5-C6
c) C7-C8
d) C8-T1

Answer 24

c5-6

Phrenic nerve palsy (C3-5): diaphragmatic paralysis, respiratory distress
Erb’s Palsy (C5-C6/7): Adduction and internal rotation of shoulder, elbow extended, forarm pronated, wrist and fingers flexed (preserved grasp)
Klumpke palsy (C8-T1): claw-like deformity, paralyzed hand, absent grasp, biceps reflex intact (may have Horner syndrome because of T1 involvemet)
Total brachial plexus injury (C5-T1): total paralysis of arm/hand and diaphragm, associated with Horner syndrome

Question 25

3mo girl with hypotonia, hypotonic facies, 1+ symmetric DTR. What is the most likely diagnosis? a. Congenital muscular dystrophy - typically have contractures at birth b. Myotonic dystrophy - reflexes preserved c. SMA1 - no facial nerve involvement d. Nemaline rod

Answer 25

Nemaline rod myopathy (UTD): The clinical expression of nemaline myopathy is variable. The presentation in affected newborns can be severe or relatively mild. In the former, profound generalized weakness and hypotonia involving the face, bulbar, and respiratory muscles is seen; the eye muscles are spared. The milder form, with relatively less facial weakness and diaphragm impairment, also can present in children or adults.

Question 26

14y girl presents with blurry vision, morning headaches and vomiting for 2 weeks. She has bilateral papilledema. No mention of meds. What’s the most likely dx? with normal imaging a. Posterior fossa tumor b. Pseudotumour cerebri

Answer 26

Pseudotumour cerebri: idiopathic intracranial hypertension (> 280 mmHg in an obese child or > 250 mmHg in a non obese child) with a normal CSF cell count, protein content and normal MRI (normal to slightly decreased ventricular size, normal ventricular anatomy). Papilledema should be universally present in children with a closed fontanelle. cause: by hypervitaminosis A, prolonged steroid Treatment: treat the underlying cause (discontinue the medication, weight loss in obese children), acetazolamide 10-30mg/kg/day Complication: optic nerve atrophy/blindness.

Question 27

9mo girl who preferentially uses left hand. Right hand is fisted. When try to sit her up, she keels over to the right. What is the explanation for the findings? a. Erb’s palsy b. Trauma to right arm c. Hemiplegia d. Spastic diplegia

Answer 27

hemiplegia

Question 28

infant w hypopigmented macules and repeated flexion movements of the entire body. EEG shows a disorganized pattern. What is the diagnosis? a. Infantile spasms b. Benign myoclonus of infancy c. Benign sleep myoclonus

Answer 28

INFANTILE SPASM - ACTH first line - but if u have tuberous scleoriss or downsyndrome- ALSO use vigabitran

Question 29

9y boy w episodic r side face twitching and drooling at night with preserved consciousness. What is the most likely diagnosis? a. Rolandic epilepsy b. Juvenile myoclonic epilepsy c. Tourette syndrome

Answer 29

Rolandic Epilepsy Also called benign childhood epilepsy with centrotemporal spokes Starts during childhood, age 3-10 years and outgrown in adolescence Clinical manifestation Child wakes from sleep due to a simple partial/focal seizure Tingling of throat/cheek Tonic or clonic contractions of 1 side of the face with drooling and inability to speak but preserved consciousness and comprehension EEG: broad based centrotemporal spikes that are markedly increased in frequency during drowsiness and sleep Normal MRI Good response to AEDs including carbamazepine.

Question 30

Juvenile Myoclonic Epilepsy (Janz syndrome) AGE BODY PART INVOLVED EEG changes?

Answer 30

Juvenile myoclonic epilepsy (Janz syndrome) is the most common generalized epilepsy in young adults, accounting for 5% of all epilepsies. Typically, it starts in early adolescence with 1 or more of the following manifestations: myoclonic jerks in the morning, often causing the patient to drop things; generalized tonic–clonic or clonic–tonic–clonic seizures upon awakening; and juvenile absences. Sleep deprivation, alcohol (in older patients), and photic stimulation, or, rarely, certain cognitive activities can act as precipitants. The EEG usually shows generalized 4-5 Hz polyspike–and–slow-wave discharges

Question 31

10 year old boy previously healthy has been waking up the parents at night with symptoms of mouth twitching, and drooling. He has a normal neurological exam and a normal MRI. Which of the following is most likely on his EEG? a. Centrotemporal Spikes b. 3 Hz spike and wave c. high amplitude waves and a background of irregular spikes

Answer 31

centrotemporal spikes

Question 32

Prophylactic treatment for migraines in child with asthma a. Propranolol b. Amitriptyline c. Sumatriptan

Answer 32

amitripytline | can cause QTc

Question 33

14 year old boy with Duchenne’s, who is in a wheelchair, has recently seen his FVC fall from 30% to 21% predicted. What symptom will he most likely complain of? a. Headache early in morning b. Headaches in the afternoon c. Tingling of his fingers d. Dyspnea with exertion

Answer 33

AM headache

Question 34

15 yr old girl has a headache, then syncope at school for several minutes. She is brought to hospital. Can’t walk because of numbness in her legs. Exam is normal, plantar reflexes normal, DTR normal. Initial loss of sensation to L4, the next day she has sensation to her ankles. Able to walk without ataxia leaning heavily on your hands, feet spaced 8 cm apart. What is your next step in management? a. EEG b. MRI head and spine c. Confrontation and explanation that her symptoms are not organic d. Refer to PT

Answer 34

PT refer

Question 35

Boy with recurrent pharyngitis. Episodic jerking of shoulders and head. Most likely diagnosis? a. Rheumatic fever b. Transient tic disorder c. Tourettes d. ?? Some sort of seizure disorder

Answer 35

transient tic

Question 36

10 yr old boy with 6 wk history of repetitive movements of head and shoulders. Has history of recurrent strep pharyngitis. What is the most likely diagnosis? a. Tourettes b. Transient tic disorder c. partial seizures d. acute rheumatic fever

Answer 36

transient tic d/o Tourette disorder (TD), persistent (chronic) motor or vocal tic(PTD), and provisional tic disorders (Table 24-1) are characterized by involuntary, rapid, repetitive, single or multiple motor and/or vocal/phonic tics that wax and wane in frequency but have persisted for more than 1 year since first tic onset (<1 year for provisional tic disorder) Symptoms must be present for a minimum of 1 year but can involve motor or vocal tics

Question 37

5 month old baby who has intermittent flexion of arms/legs for several seconds and in between that, has normal behavior. EEG – abnormal background with polyspikes. What is diagnosis? a. benign neonatal myoclonus b. infantile spasms c. benign sleep myoclonus

Answer 37

IS with hypsarythmia Infantile spasms have over 200 known causes including HIE, Tuberous sclerosis, TORCH Infections, encephalitis with HSV, Down Syndrome 3-9 months of age with spasm like seizures, involve flexion, extension of the arms, legs and trunk The background EEG is chaotic with characteristic pattern called hypsarrhythmia High dose ACTH is the gold standard for termination of spasms and resolution of hypsarrhythmia on EEG. Vigabitran is the treatment of choice for children who have TS or Down Syndrome x 6 months.

Question 38

Writing difficulties and moody after a URTI a. Tourettes b. Sydenham’s chorea c. Lupus d. Huntingtons

Answer 38

Sydenham’s chorea Chorea: rapid, chaotic movements that seem to flow from 1 body part to another. Affected individuals exhibit motor impersistence, with difficulty keeping the tongue protruded (“darting tongue”) or maintaining grip (“milkmaid grip”). Chorea tends to occur both at rest and with action. Patients often attempt to incorporate the involuntary movements into more purposeful movements, making them appear fidgety. Chorea increases with stress and disappears in sleep

Question 39

5 yo child wakes up to tell mom that he has been drooling, and facial movements in the middle of the night. Aware of events. What likely finding on EEG? a. Centrotemporal spikes b 3 hz

Answer 39

rolandic epilepsy 3hz is absence seziure

Question 40

Child with proximal weakness, calf hypertrophy. Suspect Duchenne’s. What is the best test? a. molecular studies b. serum dystrophin c. biopsy d. EMG

Answer 40

biopsy biopsy is the best, genetics is the first Polymerase chain reaction (PCR) for the dystrophin gene mutation is the primary test, if the clinical features and serum CK are consistent with the diagnosis. If the blood PCR is diagnostic, muscle biopsy may be deferred, but if it is normal and clinical suspicion is high, the more specific dystrophin immunocytochemistry performed on muscle biopsy sections detects the 30% of cases that do not show a PCR abnormality. cant detect DUPLICATIONS then need biopsy

Question 41

6 month old baby with decreased reflexes, fasciculation’s, weak muscles. Best diagnosis? a. MRI b. Thyroid test c. Genetic testing d. Metabolic testing

Answer 41

genetcs

Question 42

9 year old child with spastic quadriplegia cerebral palsy presents with a three day history of not swallowing her secretions. On baclofen, fluticasone for asthma. Looks well. Has G-tube and has been fed with thickened feeds orally. Last week received botox for lower leg contractures. Continues to tolerate po feeds and abdo exam is normal. On assessment today he is afebrile, with drooling and clear chest, no stridor. Remaining vital signs are normal. Improved movement of lower legs. Your next step is: a. pH probe b. Admit for observation c. Outpatient follow up regarding dysphagia d. Cine video swallowing fluoroscopic study

Answer 42

admit obs

Question 43

Kid with CP presents with difficulties swallowing. She is tolerating her GT feeds but has difficulty managing her oral secretions. Of note, she got Botox injections to her legs last week. On exam, she has oral secretions and her legs feel less hypertonic. What do you do: a. pH probe b. do a swallow study c. observe in hospital

Answer 43

swallow study

Question 44

Infant with hypopigmented lesions over body and brief flexion/extension of upper and lower body periodically throughout the day. Baby is mildly developmentally delayed. How would you confirm the underlying diagnosis: a. EEG b. Urine OA c. Head MRI

Answer 44

head MRI

Question 45

Child with suspicion of Duchenne’s muscular dystrophy. Best test to confirm diagnosis: [repeat] a. Molecular studies b. Muscle biopsy c. Muscle Enzyme studies d. Serum dystrophin assay

Answer 45

biopsy (BEST First is genetic)

Question 46

A 1 month old has a droopy lower left lip. The forehead moves normally. What is the problem: a. centrally mediated facial nerve palsy b. peripherally mediated facial nerve palsy c. congential absence of the mouth angle depressor muscle d. Mobius syndrome

Answer 46

congential absence of the mouth angle depressor muscle Congenital absence of the depressor angularis oris muscle often associated with other anatomical defects particularly of the heart. Not a facial nerve lesion but a cosmetic defect that does not interfere with feeding. IN FACIAL NERVE CENTRAL - ALSO u have forehead sparing, but UPPER and lower lip is involved and eyes cant close

Question 47

Drooping mouth but eyes were able to close, normal nasolabial folds. Diagnosis? a. Mobius syndrome b. congenital absence of the depressor anguli oris muscle c. CN VII lesion d. upper lobe lesion

Answer 47

congenital absence of the depressor anguli oris muscle

Question 48

A kid is having involuntary facial tics. What would NOT strengthen a diagnosis of Tourette’s? a. Positive family history of OCD - b. Hyperactivity (ADHD) - c. Tics lasting for 6 months - d. Male -

Answer 48

C tic for 6 monnth

Question 49

A kid presents with facial tics. What would support a diagnosis of Tourette’s? a. tics are present for 6 months b. family history of tics c. attention-deficit, hyperactivity disorde

Answer 49

50% with tourete have ADHD

Question 50

A kid is having involuntary facial tics. What would MOST strengthen a diagnosis of Tourette’s? a. Positive family history of OCD - b. Hyperactivity (ADHD) - c. Tics lasting for 6 months - d. Male -

Answer 50

ADHD

Question 51

A 7 year old girl has had episodes over the past couple months where she awakes from sleep, has twitching of her right lip and is unable to verbalize. The episodes last 1-2 minutes. You suspect seizure activity and order and EEG. What is it likely to show? a. spikes in the centrotemporal (rolandic) region b. Generalized slow waves c. 3 Hz generalized spikes over a normal background d. normal

Answer 51

centrotemporal

Question 52

A 14 year old girl presents to the ER with abdominal pain rated 8/10. Soft abdomen on exam, no rebound, tender but not worse with palpation. She is also complaining of a headache. She states she’s had 4 similar episodes in the past which resolved over hours. Likely diagnosis? a. abdominal migraine b. appendicitis c. PID

Answer 52

abdo migraine paroxysmal vomitting matenral hx of ha

Question 53

9 month old infant with asymmetric tonic neck reflex. What does this go with? a. Werdnig Hoffman aka SMA1 b. cerebral palsy c. normal infant

Answer 53

CP uusually lose fencing reflex bt 4 month but if sticks around then get CP

Question 54

Child with sudden movements of head, neck and shoulders. Has a history of recurrent GAS pharyngitis. Dx? a. Rheumatic fever b. Tourette’s c. Transient tic disorder

Answer 54

trainsient tic d/o RF - milking, tonge movement, emotional lability, exacberated by purposeful

Question 55

Ex-24 week prem now 18 months old. Increased tone, increased DTR, spastic. What age can you make the dx? a. 18 months b. 24 months c. 36 months d. 48 months

Answer 55

18 month . In many cases, spasticity may not be identified until age 6m. Dyskinetic patterns are not typically apparent until 18m. Ataxia may not become obvious until even later. others take 5 years

Question 56

Child with 12 hour hx of esotropia. What do you think of first? a. MS b. Lyme disease c. atypical GBS d. increased ICP

Answer 56

inc ICP - due to 6th nerve palsy lyme causes facial nerve palsy

Question 57

10 year female with optic neuritis 3 months ago. No symptoms, mom worried about recurrence long-term. Your advice? a. increased risk MS b. no risk recurrence as got IVIG c. increased risk macular degeneration

Answer 57

inc risk of MS

Question 58

Child with optic neuritis (bilat) treated with IVIG a. At risk for MS b. No risk for recurrent given treatment with IVIG c. At risk for visual impairment

Answer 58

risk of MS

Question 59

Most common need for surgery in a patient with myelomeningocele? a. Syrinx b. Tethered cord c. Hydrocephalus

Answer 59

hydroceph

Question 60

Child with episodes of clutching father and screaming then well. Frightened. Alert during episode and back to normal after. Normal exam. Diagnosis? a. Cerebellar ataxia b. Benign paroxysmal vertigo c. Seizure d. Meniere’s disease

Answer 60

benign paroxysmal vertigo common migraine equivalent that consists of brief seconds-to-minutes episodes of vertigo often accompanied by postural imbalance and nystagmus. Child appears frightened during the episode. Diaphoresis, nausea, vomiting, and rarely tinnitus may be present. Episodes usually remit by age 6. MRI and EEG normal.

Question 61

What must be present to diagnose concussion? a. Headache b. Dizziness c. Amnesia d. Vomiting

Answer 61

h/a

Question 62

8y female with subtle choreoathetotic movements. Handwriting has worsened and she is emotionally labile. Evaluations including a throat culture are negative. What is the most likely diagnosis? a. Huntigton’s chorea b. Syndenham’s chorea c. SLE

Answer 62

syndeham

Question 63

Child with proximal muscle weakness and decreased DTR a. Congenital myopathy b. Peripheral neuropathy c. Spinal cord d. Neuromuscular junction problem

Answer 63

congenital myopathy a. Congenital myopathy b. Peripheral neuropathy (distal > proximal) c. Spinal cord (absent DTRs) d. Neuromuscular junction problem (normal DTR)

Question 64

Child with brachial plexus injury. How long before if no change in exam is prognosis poor? a. 1 mo b. 3 mo c. 6 mo d. 12 mo

Answer 64

1 month

Question 65

12-year old girl presents with esotropia. What diagnosis should you rule out first? a. multiple sclerosis b. brain tumour c. atypical Guillain-Barre syndrome d. meningitis

Answer 65

tumor due to icp inc

Question 66

An 11-month old child presents with persisting ATNR reflex. What are you worried about? a. cerebral palsy b. normal child

Answer 66

CP

Question 67

``` A child with cerebral palsy comes to your office with the complaint of poor school performance. Your exam in normal. You do a CT head and there are no problems with his shunt. What do you do next? a. EEG b. thyroid? c. test for meningitis? d, refer to psych ```

Answer 67

Key here is always rule out shunt malfunction first Kids with myelomeningocele can have learning disabilities UTD- overview of the management of myelomeningocele (spina bifida) Shunt malfunction:

Question 68

A baby is diagnosed with spastic diplegia. What do you tell the parents is the most likely cause? a. periventricular leukomalacia b. intraventricular hemorrhage c. prenatal brain insult d. perinatal asphyxia

Answer 68

PVL

Question 69

3mo baby boy with myoclonic crises with flexion of arms and legs and head. Dx? a. Lennox Gastaut b. Infantile spasms c. progressive myoclonic epilepsy

Answer 69

IS Lennox-gastaut: inconsistently defined syndrome; associated with severe seizures in childhood; usually presents before 8 years (3-5 years); many evolve into other seizure syndromes such as West syndrome or infantile spasms. (1) multiple seizure types particularly tonic and atypical absence. (2) slow spike wave pattern on EEG, generalized, usually highest in frontal region, (3) mental retardation

Question 70

Progressive myoclonic epilepsy: a group of epilepsies characterized by progressive dementia and worsening myoclonic and other seizures.

Answer 70

type I or Unvericht Lundborg disease (secondary to a cystatin B mutation) is more slowly progressive than the other types and usually starts in adolescence. Type II or Lafora body disease

Question 71

A 12m previously healthy develops fever 39.5 and suffers a 2 min GTC seizure.PE reveals an alert child who has no abnormal neurologic findings. The likelihood that this child will develop epilepsy is closest to: a. 1% b. 10% c. 25% d. 40%

Answer 71

1% 2% chance of epilepsy (1% if your normal) ●A convulsion associated with an elevated temperature greater than 38°C ●A child older than six months and younger than five years of age ●Absence of central nervous system infection or inflammation ●Absence of acute systemic metabolic abnormality that may produce convulsions ●No history of previous afebrile seizures

Question 72

After 12days of URTI a 12 y old boy complains of weakness in his lower extremities .over several days, the weakness progress to include his trunk. On PE: he has weakness described and no lower extremities deep tendon reflexes, muscle atrophy or pain. The most likely diagnosis : a. Bell palsy b. Muscular dystrophy c. Guillian barre syndrome d. viral infection

Answer 72

GBS

Question 73

During the past 2w a 14 month old boy has had 3 episodes of being angry, suddenly becoming pale and then appearing to jerk. These episodes last less than 1 min .The boy’s diaper were wet after each episode. Most likely diagnosis

Answer 73

breath hold

Question 74

Over a period of 3 days in March, a 5y old girl who lives in Manitoba begins to stumble and asks to be carried. Her mother states that the girl is becoming clumsy when she eats and he face seems to be losing its expression. PE reveals bilateral facial weakness, areflexia and ataxia when walking or reaching. The most likely diagnosis:

Answer 74

GBS - miller fisher variant in miller fisher variant of GBS weak eye muscles with double or blurred vision, eyelid drooping poor balance and incoordination with sloppy or clumsy walking loss of DTRs vs tick bite

Question 75

Which of the following is true about concussion in children: a. bradycardia is seen in the recovery phase b. cortical blindness is a frequent clinical manifestation c. Duration of vomiting is a good indicator of the severity d. Loss of tone is seen in the acute phase

Answer 75

C duration of vomitting

Question 76

An 18 month old infant has recurrent febrile seizures. The mother wants a medication to prevent the development of Epilepsy. What do you offer her? a. Phenobarb b. Phenytoin c. Valproate d. carbamazepine e. nothing

Answer 76

nothing

Question 77

The following scenarios can be seen in a child with meningitis. For which one of the following children would you order a head CT? a. a 4 month old with a persistent fever 24 hours after admission b. a neonate with irritability and hypothermia c. a 5 year old with generalized tonic-clonic seizures on presentation d. a 15 year old with confusion for 24 hours after admission e. a 5 month old with decreased serum sodium 24 hours after admission

Answer 77

a -- | 15 year old with confusion for 24 hours after admission

Question 78

10 yo unilat throbbing h/a, mother and sis with migraines, investigations a. CT head b. bld cx c. EEG d. sinus xray e. nothing

Answer 78

nothing

Question 79

6 month old baby with pallor, hepatosplenomegaly, irritable. Xray shown with very white bones. Diagnosis: a. osteopetrosis

Answer 79

osteopetrosis The increase in bone density leads to progressive replacement of the bone marrow, with subsequent anemia and pancytopenia. Sclerosis of the skull may also cause compression of the cranial nerves, in particular the optic nerves. This condition is also associated with intellectual disability, short stature, and in some cases basal ganglia calcifications autosomal recessive form caused by homozygous or compound-heterozygous mutations in the carbonic anhydrase type II gene (CA2

Question 80

A 10-year-old child has a history of migraine headaches. Which drug should he take at home for symptomatic relief from headaches: a. acetaminophen b. codeine c. gravol d. Sumatriptan e. maxeran

Answer 80

First line NSAIDs, then triptans for mod to severe attacks | NSAIDs are better than acetaminophen.

Question 81

A 5-month-old is brought to the ER because of intermittent abdominal pain for the past 5 weeks. The pain occurs several times daily, during which he screams and extends his arms and legs up simultaneously. The episodes last only seconds, and afterwards he returns to normal. His mother also feels that he has not been himself for the past month and that he doesn't smile as easily. a. colic b. constipation c. epilepsy d. intermittent intussusception e. reflux esophagitis

Answer 81

C epilepsy sounds like infantile spasms ** concerns for developmental regression which is part of IS present at <1 year spasms of neck, trunk and extremities- usually symmetric and synchronous – different kinds but can have sudden flexion or extension or arms and legs ddx includes: colic, GERD, excess startles/moro response, spasticity, benign myoclonus or early infancy, benign neonatal sleep myoclonus, tonic reflex seizures of early infancy, and benign and severe myoclonic epilepsies etc etc need EEG to distinguish

Question 82

A 6-year-old boy has been having involuntary tics for approximately 1 month. He is in grade 1 and doing well. His mother feels that their onset correlates with the death of his grandfather. You suggest: a. wait b. refer to psychiatrist c. treatment with haloperidol d. treatment with methylphenidate e. tell his mother that he will have Tourette’s syndrome

Answer 82

WAIT Tourette’s disorder (TD) or syndrome (TS) - multiple motor and one or more vocal tics that have been present at some time in the illness, although not necessarily concurrently. The tics occur many times a day nearly every day for >1 yr with no more than 3 consecutive tic-free months. Chronic motor or vocal tic disorder - similar, but each does not include both kinds of tics. Transient tic disorder - motor and/or vocal tics that have been present for at least 4 wk, but <1 yr.

Question 83

A child has sustained a head injury and has been intubated in ICU with a fluctuating GCS of 6-9 for several days. There is no evidence of intracranial bleeding or cerebral edema. Upon discharge, the mother can expect her child to develop: a. fine motor problems b. seizures c. insomnia d. behavior problems e. psychiatric problems

Answer 83

insomnia getting at ICU delirium (you can’t assume he’s going to have any of the other issues). – due to being hospitalized, in the ICU, intubated, etc. -delirium happens in 25-30%

Question 84

Child with absence seizures. What do you tell the parents: a. significantly increased risk of generalized tonic-clonic seizures in the future b. should be seizure-free within 2 years c. will have more absence seizures as time goes on d. increased risk of developmental delay e. prognosis is generally poor

Answer 84

inc developmental delay Diagnostic criteria: According to these criteria, a diagnosis of CAE requires all of the following: Age at onset of 4 to 10 years Normal neurological and developmental state Brief (4 to 20 seconds) and frequent (tens per day) absence seizures, with abrupt and severe loss of consciousness Generalized rhythmic spikes or double spike wave discharges at around 3 Hz

Question 85

What is the best medication for treating absence seizures: a. valproic acid b. clonazepam c. carbamazepine d. phenytoin e. phenobarbital

Answer 85

VPA

Question 86

5-year-old boy has been experiencing constant headaches for the past 3 months. They are getting worse and are interfering with his functioning. Which diagnosis should you consider: a. brain tumor b. migraine headaches c. tension headaches d. behavioral problem

Answer 86

brain tumor

Question 87

A child was playing soccer when he collided with another child, sustaining a head injury with brief (seconds) loss of consciousness. He currently has no complaints. What do you advise: a. wait 15 minutes and if ok then allow him to go back into the game b. wait 15 minutes, have child do mental tasks, and if ok then allow him to go back into the game c. remove him from the game, he can play soccer tomorrow d. remove him from the game, he should not play soccer for 1 week e. send him home with a note for his parents about head injuries

Answer 87

remove him from the game, he should not play soccer for 1 week

Question 88

A 14-year-old girl with spina bifida at the T12 level presents with a one-day history of a swollen leg and foot with erythema over the anterior tibia. Temp 37.8. WBC 16. ESR 22. Most likely: ***Q a. fracture b. cellulitis c. osteomyelitis d. deep venous thrombosis e. erythema nodosum?

Answer 88

Answer: B cellulitis- clinical picture more in keeping (one day, not so high inflammatory markers, cellulitis more common) ?fracture UTD: Fractures in children with myelomeningocele can present with marked swelling and redness, and may be mistaken for osteomyelitis.

Question 89

In a child with myopathy, which of the following could help distinguish Dermatomyositis from Duchenne’s MD? a. proximal muscle weakness b. rash on face and knuckles c. abnormal muscle enzymes d. onset before age 5 years e. more commonly affects girls than boys

Answer 89

rash on face and knuckles on DERMATOMYOSITIS Characteristic cutaneous changes, consisting of heliotrope dermatitis (reddish-purple rash on the upper eyelids with periorbital edema) and Gottron papules (erythematous, papulosquamous eruption over the dorsal surfaces of the knuckles)

Question 90

Adolescent female noted to have ?seizure post soccer game. There is a family history of seizures and the GP starts her on phenobarb prophylactically. Despite this, she has a second episode. What would you do next? a. EEG b. ECHO c. Holter for 24 hours d. ECG e. exercise ECG

Answer 90

ECG consider EEG

Question 91

Which of the following is associated with spinal cord anomalies in a newborn: a. anorectal anomalies b. arthrogryposis c. malrotation d. dislocated hip

Answer 91

dislocated hip Other complications: Neurogenic bladder and fecal incontinence - related to how bowel/bladder are innervated Pressure ulcers Ortho problems - muscle and joint dysfunction Orthopedic issues common among myelomeningocele patients. Orthopedic abnormalities in patients with myelomeningocele are caused by unbalanced muscle action around joints, paralysis, and decreased sensation in the lower extremities

Question 92

An 8 year sustained a severe head injury from which he has completely recovered. The most likely long-term sequela is: a. epilepsy b. specific learning disability

Answer 92

learning disblity

Question 93

Which of the following is not prescribed for migraine prophylaxis: a. propranolol b. methylsegide c. sumatriptan d. phenytoin e. amitriptyline

Answer 93

SUMATRIPTAN NOT USED

Question 94

15 year old female with a history of severe intermittent migraines which interfere with school attendance. She has failed several curative therapies. Otherwise well except for asthma treated by puffers. Which medication would you consider for prophylaxis: a. Propranolol b. Sumatriptan c. amitriptyline d. Ergotamine

Answer 94

ANSER AMITRIPTYLINE a. Propranolol contraindicated in asthma b. Sumatriptan acute treatment c. amitriptyline d. Ergotamine acute treatment

Question 95

In counselling a woman who has had a child with a meningomyelocele, what would you tell her as regards her next pregnancy: a. take folic acid prior to conception and then for 10 weeks afterwards b. ultrasound at 16 weeks c. amniocentesis at 16 weeks d. alpha-fetoprotein at 16 weeks

Answer 95

A take folice acid prior and 10 w after

Question 96

A 3 year old girl presents with a 2 day history of acute onset head tilt. Other than papilledema, name four physical exam findings that would be consistent with an infratentorial tumour.

Answer 96

``` Nausea/vomiting Headache Ataxia Cranial nerve palsies Nystagmus ```

Question 97

Teenager with migraine headache >72 hours that is resistant to Tylenol and ibuprofen. List 4 treatments you will give for his migraine.

Answer 97

“Status migrainosus” Oral triptan first (sumatriptan, almotriptan) - can also try in combination with naproxen If not responsive, move to non-PO options IV Ketorolac Metoclopramide/Prochlorperazine IV Dihydroergotamine IV Would give IV medications with NS bolus

Question 98

A 13 year old previously well boy presents to the ED after having a prolonged generalized tonic-clonic seizure. What is the one thing you should test now? Glucose List sequentially the medications you would use to treat seizures (five points)

Answer 98

``` Benzodiazepine (Lorazepam 0.1 mg/kg IV) x2 - can give buccal/PR if no access Fosphenytoin/phenytoin 20 mg/kg IV load Phenobarbital 20 mg/kg IV load Midazolam continuous infusion Thiopental/Pentobarbital load ```

Question 99

10 year old female with neurofibromatosis 1 presents with a one week history of vomiting and blurry vision. Blood pressure found to be 180/90, papilledema noted to eye examination.

Answer 99

Hypertensive emergency Goal is to lower BP to a value that causes cessation of life-threatening signs and symptoms and prevents further end-organ damage from occurring This is typically around the 95th percentile for age Should lower BP in a controlled fashion, no more than 25% of the overall planned BP reduction in the first 8 hours a. List two pharmacological interventions you would use (must use IV infusions!) Nicardipine IV infusion Labetalol IV bolus, followed by infusion b. What is one complication that could happen if the blood pressure was lowered too quickly over the next 12 hours. Irreversible end organ damage caused by abnormalities of autoregulation: Cerebral ischemia Myocardial infarction Renal insufficiency c. What do you think the cause is for this presentation? Renovascular

Question 100

A 7 year old boy had an unprovoked seizure one week ago. The seizure was generalized tonic clonic and he returned to baseline quickly afterwards. He is now seeing you in clinic. What is one diagnostic test you would do now and why? Neuroimaging (MRI), to rule out intracranial pathology (Nelson’s) What is the risk of recurrence? what 2 management?

Answer 100

25-percent risk of having another seizure in the next year and a 45-percent risk over the next three years (UTD) Arrange for EEG Decide whether to start antiepileptic medication based on risk of recurrence: if abnormal EEG and/or MRI, risk higher therefore would start; if not would monitor

Question 101

Neuro exam of a hypertonic kid a. What is one clinical feature that would make you think of spasticity? b. Where does it come from? c. What is one clinical feature that would make you think of rigidity d. Where does it come from?

Answer 101

Velocity- dependent initial resistance to passive movement, followed by sudden release (“clasp-knife”) Upper motor neuron dysfunction Constant resistance to passive motion throughout range of motion, not influenced by velocity of movement Basal ganglia

Question 102

For DMD, name 4 organ systems affected, aside from muscles. For each, name 1 related presentation specifically related to the absence of dystrophin. (4)

Answer 102

Cardiovascular: cardiomyopathy CNS: intellectual impairment, learning disabilities (dystrophin in brain) Respiratory: weak cough, decreased respiratory reserve, pneumonia GU: incontinence (urethral sphincter weakness) MSK: scoliosis, contracture (surrounding muscle weakness)

Question 103

Name 4 features of atypical febrile seizures (4)

Answer 103

``` Duration longer than 15 minutes Focal clinical manifestation More than 1 seizure in 24 hour period [Paeds in Review; Seizures] 4. Transient hemiparesis [UTD] ```

Question 104

List 4 criteria for cyclical vomiting syndrome.

Answer 104

At least 5 attacks in any interval, or a minimum of 3 episodes during a 6-mo period • Recurrent episodes of intense vomiting and nausea lasting 1 hr to 10 days and occurring at least 1 wk apart • Stereotypical pattern and symptoms in the individual patient • Vomiting during episodes occurs ≥4 times/hr for ≥1 hr • Return to baseline health between episodes • Not attributed to another disorder

Question 105

8 year old girl has a concussion while playing hockey. She has headaches and cognitive impairment. Describe 2 recommendations you would give for cognitive rest (2 marks) What would you advise regarding return to school (1 mark)? What criteria must be met for her to return to hockey (2 marks)?

Answer 105

Cognitive rest involves limiting activities that require mental exertion, including reading, texting, watching television, computer work, electronic games (‘screen time’) and school. Students may require a brief absence from school to allow symptoms to improve, followed by a gradual return (eg, attending half-days or only certain courses), until they are able to attend full-time without symptom exacerbation. If she encounters a headache while at school, recommend frequent breaks, hydration, quiet area.

Question 106

return to play protocol

Answer 106

Each step of the protocol should take a minimum of 24 h and progression to the next step should only occur if the athlete remains symptom free. If any symptom recurs, the individual should rest until it resolves (24 h to 48 h at a minimum) before trying again, this time starting with the last step at which they were asymptomatic. Symptoms must be free for 7-10 days Return to learn must preceed return to play (Only after an athlete has been symptom free for seven to 10 days and has fully returned to school should she or he begin a medically supervised, stepwise RTP protocol)

Question 107

14 year old obese boy comes in with 3 day history of headache. On exam, he has bilateral papilledema, Head imaging is normal. A. What is the most likely diagnosis? B. What test would you do to confirm?

Answer 107

``` Benign intracranial hypertension/pseudotumor cerebri lumbar tap (shows high opening pressure) - both diagnostic and therapeutic ```

Question 108

Name 3 life-threatening complications of Guillain-Barre Syndrome

Answer 108

Respiratory failure Dysautonomia/autonomic dysfunction - tachycardia (the most common), urinary retention, hypertension alternating with hypotension, orthostatic hypotension, bradycardia, other arrhythmias, ileus, and loss of sweating Cardiac arrhythmias aspiration

Question 109

3). 8 year old girl has a concussion while playing hockey. She has headaches and cognitive impairment. Describe 2 recommendations you would give for cognitive rest (2 marks) What would you advise regarding return to school (1 mark)? What criteria must be met for her to return to hockey (2 marks)?

Answer 109

no school, decrease and limit cognitive tasks and screen time at home. As symptoms improve, slowly increase cognitive tasks at home in 15 min to 20 min increments. As symptoms continue to improve, resume school attendance. Start with half-days or only certain classes (avoid gym, music, shop). Limit homework assignments to 15 min to 20 min blocks. Gradually increase school attendance to full days as symptoms allow. Specific accommodations may be required to avoid symptom exacerbation. A concussed athlete should not return to sports until all concussion signs and symptoms have resolved and she or he has been medically cleared.There should be no same-day RTP. Once symptoms have resolved and the individual has been symptom free for several days (up to seven to 10 days), he or she can progress through a medically supervised stepwise exertion protocol. Each step of the protocol should take a minimum of 24 h and progression to the next step should only occur if the athlete remains symptom free. If any symptom recurs, the individual should rest until it resolves (24 h to 48 h at a minimum) before trying again, this time starting with the last step at which they were asymptomatic.

Question 110

A mother comes to you with her 7 month old with concerns that he has an abnormally shaped head. You suspect craniosynostosis which is confirmed with an xray. What is the most common type of craniosynostosis? (1) What would you next? Justify your answer. (2)

Answer 110

sagital craniosynotsis | refer to cranio facial team

Question 111

Picture of teen 15 yo girl with bell’s palsy. What is it? How do we treat it (TWO things), what is the percentage of recovery?

Answer 111

Bell palsy is an acute unilateral peripheral facial nerve palsy - abruptly about 2 wk after a systemic viral infection. The preceding infection is caused by the herpes simplex virus, varicella-zoster virus -upper and lower portions of the face are paretic, and the corner of the mouth droops. Patients are unable to close the eye on the involved side and can develop an exposure keratitis at night. Taste on the anterior two thirds of the tongue is lost on the involved side in approximately 50% of cases; this finding helps to establish the anatomic limits of the lesion as being proximal or distal to the chorda tympani branch of the facial nerve. Oral prednisone 85% recover

Question 112

FIVE features of a child with basilar migraine | in brainstem

Answer 112

Possible features: vertigo, tinnitus, diplopia, blurred vision, scotoma, ataxia, and an occipital headache. The pupils may be dilated, and ptosis may be evident.

Question 113

A 10 year old girl comes in with a history of an inability to brush her hair in the morning, and difficulty walking up stairs. You see this on physical examination. What is her diagnosis?

Answer 113

Juvenile dermatomyositis Juvenile dermatomyositis (JDM) is the most common inflammatory myositis in children, distinguished by proximal muscle weakness and a characteristic rash.

Question 114

Child with abdominal pain and other symptoms. Likely abdominal migraine. Name 2 other migraine variant conditions.

Answer 114

Migraine variants [UTD]: ``` Migraine with aura Hemiplegic migraine Migraine with brainstem aura (basilar migraine) Vestibular migraine Retinal migraine ``` Migraine without aura Menstrual migraine

Question 115

Patient with Duchenne muscular dystrophy. Other than the musculoskeletal manifestations, name other 4 affected organ systems and 1 specific manifestation for each

Answer 115

Cardiac, cardiomyopathy Neurologic, intellectual impairment, epilepsy Respiratory, OSA GI, dysphagia, constipation and GERD

Question 116

Ex-29 week prem with hyperreflexia and gross motor delay. Had history of Grade II IVH and PVL. Advise the mother about the likely cause of CP in this child. What would you see on a CT that is specific to this?

Answer 116

Cerebral palsy highly associated with PVL CT: ventriculomegaly, thinning of corpus callosum, absence of PV white matter PVL becomes porencephalic cysts

Question 117

. Four-month infant who has recurrent extensor and flexor movements, preceded by a sharp cry, often in the early morning. Noted to have hypopigmented patches of skin.

Answer 117

Infantile spasms - Seizures are the most frequent presenting feature of TSC; infantile spasms are the most common type at initial diagnosis, occurring in 36 to 69 percent of patients. Conversely, up to 25 percent of children with infantile spasms may have TSC. Other seizure types that occur in TSC include simple partial, complex partial, and secondarily generalized MRI EEG for hypsarrythmia

Question 118

A mother has a previous child with myelomeningocele. She is thinking of having another child and comes in to speak with you for advice. What three things do you tell her (3)?

Answer 118

child and comes in to speak with you for advice. What three things do you tell her (3)? (1) take 4 mg folic acid prior to getting pregnant and continue through the pregnancy (2) consult with OB to discuss measures during the pregnancy, including screening AFP, U/S monitoring and amnio for AFP (3) risk of having subsequent child w/ NTD is 3-4% (increases to 10% after having 2 children w/ NTD)

Question 119

16-month boy has episodes (once weekly) of falling down suddenly and refusing to get up. Remains conscious. Recovers in a few minutes. Sometimes vomits. Eyes are noted to move during the episode. What is his diagnosis (1)? What is one associated condition (1)?

Answer 119

Diagnosis: Benign Paroxysmal Vertigo Associated with: Migraines BPV is a common migraine equivalent - episodes of brief imbalance , patient can appear frightened. Complain of vertigo with changes in head position, especially upon waking in the morning and sitting up in bed. Episodes usually last less than one minute. Nystagmus, diaphoresis, nausea and vomiting may be present

Question 120

26) 6 year old who has a history of diplopia, headache and ataxia. Where is the lesion? (1) What are the two most likely brain tumours for the lesion (2)

Answer 120

posterior fossa/infratentorial infratentorial tumors present with disorders of equilibrium, gait, and coordination + blurred vision, diplopia, nystagmus medulloblastoma and cerebellar astrocytoma embryonal tumors are the most common group of malignant CNS tumors in children and medulloblastoma accounts for 90% of these → n cerebellar vermis or cerebellar hemispheres astrocytomas - 40% of CNS tumors in childhood, most common is the pilocytic astrocytoma and this is most often in the cerebellum

Question 121

Four-month infant who has recurrent extensor and flexor movements, preceded by a sharp cry, often in the early morning. Noted to have hypopigmented patches of skin. (1) What is your diagnosis of his acute problem? (1) What test would you use to confirm this? (1) What is his underlying condition? (1) What test would you do to confirm this ?

Answer 121

this is infantile spasms EEG for hypsarrhythmia (although can have infantile spasms w/o hypsarrhythmia) Tuberous Sclerosis Genetic testing - TSC1 and TSC2

Question 122

6-year-old girl has recent history of gastroenteritis. She develops bilateral decreased sensation in her feet. Her respirations are normal. What is her diagnosis (1)? What test or procedure would you do and what are your expected findings? What is the likely organism that caused her gastroenteritis

Answer 122

GBS (2) LP: elevated protein, Nerve Conduction: slowed conduction, prolonged f waves. MRI: nonspecific enhancement of spinal cord nerve roots (3) campylobacter jejuni

Question 123

Child with suspected Duchenne muscular dystrophy. What is diagnostic on biopsy (be specific)? What 2 things do you want to know to help with genetic counseling?

Answer 123

Biopsy: degeneration/regeneration, “opaque” fibers, replacement of muscle with fat and CT, absent dystrophin staining (2) Is there an x-linked pattern of inheritance in the family (ie is the the dystrophin gene on X chrom affected, or dystrophin-associated glycoproteins found on autosomes); are they planning on having more children?

Question 124

HIGH YIELD

Answer 124

meningomyelocele DMD RTP

Question 125

anti epileptic uses and side effect carbamazapine- rolandic or focal NOT FOR ABSENCE OF MYOCLONIC OR <1YO s/e sjs and agranuocytosis VPA generalized, partial or absecnce - watch for hepatoxocity, pancreatitis and BM suppresion, weight gain, hair loss, pcos, low plt, teratogenic phenytoin- DONT USE absnece of mycolinic seizutres, ataxia, sjs, ginvgivial ethosuximide for absence- causes agranulocytosis rufinamide - for lennox gestaut and atonic seizures

Answer 125

all AED can cause irritbility and upset hence partial seizure - carbamazepine or phenytoin - both of which cannot be used for absence or myoclonic

Question 126

spastic diplegia at risk if PRE term, VLBW, ischemia, thyroid or infxn, not usually associated with ID usu<32 w wateshed injury causing periventricular malascia dyskimetic - normal IQ eithe r kernicturus or perinatal tress0 basak gangia and thalamus injury with dystonia chorea atethosis

Answer 126

quadaplegie is usally wiht intelectual disability, supranuclear bulbar palsies, pvl, caused by ischemia, IVH, infxn, genetic cuae, cerebral malformation hemiplegia usually prenatal insult

Question 127

``` workup of developmental delay hearing and vision cbc, lyte, lft, renal genetic= karyotype, fragile x, rett microarray if 1+ mutation mri ```

Answer 127

regression loss of prev skill change in beh or cognition vision loss when gait issues or seizures

Question 128

presentatiom of upper vs lower motor neuron 1- upper - inc tone and reflex, pyrimidal, groups of muscles, hyperactive reflex and clpus and clasp knife positiev babinkski 2-lower- wasting fasciulate, distal more then proximal, absent reflex, paralyze individual muscke, fasciuluations, atrophy of nerve spinal cord- no reflex, weak, prox more then distal and fasciuclation

Answer 128

SMA, AR SMN1- type 1-3, 1 most common and worst, maitnained anal sphincter and upper CN, fasciculation, bulbar, weak cry, pool secretions, restrcitive progressive resp insuff, diagnose with genetic marker for blood in SMN gene, due to ant horn cell degeneration and motor nuclei degeneration in lower brainstem DMD exam, gower, gastroc pseudohyperthopy, lubar lordosis, CPS10K elevated ast, emg myopathic features, pcr for dsytrophen bx muscle- opaque hypertrohpic fibres wiht replace of muscle with fat/ctd and absent dystrophin staining with intellectual disability, resp= sleep disorderd breathing, cardio-dcm, dev't adhd and learning disability, tx DEFLAZACORT steroid to prolong ambulation, imp resp, delay scoliosis

Question 129

diff btwn muscular dystrophy and MYOTONIC dystrophy musc dystrophy- includes dmd, becker and congenital - with congenital have arthryogynposis and thin mnusckle mass with absnet stretch erflexes, normal suck swallow and eye movement

Answer 129

myotonic dystrophy- AD DMPK CTG rpt, anticpation - mm frontalbald, diabetes, dull congition, hand myotonia. MYOTONIA is slow relaxation, characteristic inverted V SHAPE upper lip, thin cheeks and scallopwed temporalis muscles HANDS effected more - distal muscle WASTING (unlike other myopathies)

Question 130

which condition has DESCENDING paralysis ASCENDING 1- tick -with absent reflexes along with 2- gullian barre syndorome (trigger - campylobacter jejnu, h flu, m.pneuno, west nile, vaccines, hiv, hep, ebv/cmv csf has high protein with normal WBC, complications bulbar (resp, dyshpagia) and autonomic instability, treatment SUPPORTIVE IVIG no steroids, dont tx campylobacter poor prog - cn invovlement, intubation, disablity max at presentaion

Answer 130

botulism can give botuslim IVIG within72 hourS blocks ach, coloniaes large intestine, hypotonia, dec reflexes, hypoventilation, poor feed, letrahgy, constsipation, urinary retention (anti-parasym) miller fisher acute extenral opthalmoparesis areflxia igg and m to GQ1B ganglioside descending (head first)