Neuro Flashcards
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
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
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
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
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
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)
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
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
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
low WBC, high protien
Previously healthy 2 yo presents with 2 weeks proximal muscle weakness. Most likely disorder: congenital myopathy neuromuscular junction peripheral neuropathy Spinal cord injury
congenital myopahty
Newborn found to have cardiac rhabdomyoma. What syndrome is this associated with?
Tuberous Sclerosis
NF-
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
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
vpa
Nausea, vomiting, alopecia
Weight gain, metabolic syndrome
Thrombocytopenia
Hepatotoxicity, pancreatic toxicity
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
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
7 year old migraine, 3-4 x/month. Management: A. Ibuprofen as needed B. Propranalol prophylaxis C. Referral to neurologist D. Brain MRI
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
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
ssx free 7-10d
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
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.
Kid presents with 3rd febrile seizure in the past month. Otherwise well, no post-ictal. What do you do? Reassure EEG Admit MRI brain
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
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
25%
The cause of SMA is genetic as an autosomal recessive mendelian trait: SMN1 gene on chromosome 5q13.2
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
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)
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
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,
A 7 yo boy has become ataxic over the last few months, gradually worsening. What is the probably diagnosis?
a. Adrenoleukodystrophy
b. Encephalitis
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
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
posterior displacement of ipsilateral
Lambdoidal craniosynostosis: Premature closure of unilateral lambdoid suture, posterior displacement and low set ipsilateral ear, contralateral frontal bossing
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
reassure parents
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
amitriptyline
. Girl walked and tripped on a curb now has cold extremity painful to touch
a) CRPS
b) osteomyelitis
CRPS
Myotonic infant with fasiculations, low reflexes. Parents wonder chance of recurrence?
a) 25% recur
b) 50%
c) 50% males
d) Sporadic
25% recur
Child previously well has ascending hyporeflexia, paralysis. Cause?
a) Campylobacter
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.
Brachial plexus injury-extended hand, pronated, but can grip. Which nerve roots
a) C3-C4
b) C5-C6
c) C7-C8
d) C8-T1
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
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
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.
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
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.
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
hemiplegia
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
INFANTILE SPASM
- ACTH first line
- but if u have tuberous scleoriss or downsyndrome- ALSO use vigabitran
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
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.
Juvenile Myoclonic Epilepsy (Janz syndrome)
AGE
BODY PART INVOLVED
EEG changes?
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
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
centrotemporal spikes
Prophylactic treatment for migraines in child with asthma
a. Propranolol
b. Amitriptyline
c. Sumatriptan
amitripytline
can cause QTc
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
AM headache
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
PT refer
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
transient tic
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
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
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
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.
Writing difficulties and moody after a URTI
a. Tourettes
b. Sydenham’s chorea
c. Lupus
d. Huntingtons
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
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
rolandic epilepsy
3hz is absence seziure
Child with proximal weakness, calf hypertrophy. Suspect Duchenne’s. What is the best test?
a. molecular studies
b. serum dystrophin
c. biopsy
d. EMG
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
6 month old baby with decreased reflexes, fasciculation’s, weak muscles. Best diagnosis?
a. MRI
b. Thyroid test
c. Genetic testing
d. Metabolic testing
genetcs
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
admit obs
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
swallow study
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
head MRI
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
biopsy (BEST
First is genetic)
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
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
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
congenital absence of the depressor anguli oris muscle
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 -
C tic for 6 monnth
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
50% with tourete have ADHD
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 -
ADHD
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
centrotemporal
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
abdo migraine
paroxysmal
vomitting
matenral hx of ha
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
CP
uusually lose fencing reflex bt 4 month
but if sticks around then get CP
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
trainsient tic d/o
RF - milking, tonge movement, emotional lability, exacberated by purposeful
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
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
Child with 12 hour hx of esotropia. What do you think of first?
a. MS
b. Lyme disease
c. atypical GBS
d. increased ICP
inc ICP - due to 6th nerve palsy
lyme causes facial nerve palsy
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
inc risk of MS
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
risk of MS
Most common need for surgery in a patient with myelomeningocele?
a. Syrinx
b. Tethered cord
c. Hydrocephalus
hydroceph
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
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.
What must be present to diagnose concussion?
a. Headache
b. Dizziness
c. Amnesia
d. Vomiting
h/a
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
syndeham
Child with proximal muscle weakness and decreased DTR
a. Congenital myopathy
b. Peripheral neuropathy
c. Spinal cord
d. Neuromuscular junction problem
congenital myopathy
a. Congenital myopathy
b. Peripheral neuropathy (distal > proximal)
c. Spinal cord (absent DTRs)
d. Neuromuscular junction problem (normal DTR)
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
1 month
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
tumor due to icp inc
An 11-month old child presents with persisting ATNR reflex. What are you worried about?
a. cerebral palsy
b. normal child
CP
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
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:
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
PVL
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
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
Progressive myoclonic epilepsy: a group of epilepsies characterized by progressive dementia and worsening myoclonic and other seizures.
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
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%
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
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
GBS
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
breath hold
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:
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
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
C duration of vomitting
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
nothing
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
a –
15 year old with confusion for 24 hours after admission
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
nothing
6 month old baby with pallor, hepatosplenomegaly, irritable. Xray shown with very white bones. Diagnosis:
a. osteopetrosis
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
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
First line NSAIDs, then triptans for mod to severe attacks
NSAIDs are better than acetaminophen.
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
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
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
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.
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
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%
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
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
What is the best medication for treating absence seizures:
a. valproic acid
b. clonazepam
c. carbamazepine
d. phenytoin
e. phenobarbital
VPA
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
brain tumor
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
remove him from the game, he should not play soccer for 1 week
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: 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.
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
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)
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
ECG
consider EEG
Which of the following is associated with spinal cord anomalies in a newborn:
a. anorectal anomalies
b. arthrogryposis
c. malrotation
d. dislocated hip
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
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
learning disblity
Which of the following is not prescribed for migraine prophylaxis:
a. propranolol
b. methylsegide
c. sumatriptan
d. phenytoin
e. amitriptyline
SUMATRIPTAN NOT USED
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
ANSER AMITRIPTYLINE
a. Propranolol contraindicated in asthma
b. Sumatriptan acute treatment
c. amitriptyline
d. Ergotamine acute treatment
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
A take folice acid prior and 10 w after
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.
Nausea/vomiting Headache Ataxia Cranial nerve palsies Nystagmus
Teenager with migraine headache >72 hours that is resistant to Tylenol and ibuprofen. List 4 treatments you will give for his migraine.
“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
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)
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
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.
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
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?
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
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?
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
For DMD, name 4 organ systems affected, aside from muscles. For each, name 1 related presentation specifically related to the absence of dystrophin. (4)
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)
Name 4 features of atypical febrile seizures (4)
Duration longer than 15 minutes Focal clinical manifestation More than 1 seizure in 24 hour period [Paeds in Review; Seizures] 4. Transient hemiparesis [UTD]
List 4 criteria for cyclical vomiting syndrome.
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
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)?
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.
return to play 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.
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)
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?
Benign intracranial hypertension/pseudotumor cerebri lumbar tap (shows high opening pressure) - both diagnostic and therapeutic
Name 3 life-threatening complications of Guillain-Barre Syndrome
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
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)?
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.
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)
sagital craniosynotsis
refer to cranio facial team
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?
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
FIVE features of a child with basilar migraine
in brainstem
Possible features: vertigo, tinnitus, diplopia, blurred vision, scotoma, ataxia, and an occipital headache. The pupils may be dilated, and ptosis may be evident.
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?
Juvenile dermatomyositis
Juvenile dermatomyositis (JDM) is the most common inflammatory myositis in children, distinguished by proximal muscle weakness and a characteristic rash.
Child with abdominal pain and other symptoms. Likely abdominal migraine. Name 2 other migraine variant conditions.
Migraine variants [UTD]:
Migraine with aura Hemiplegic migraine Migraine with brainstem aura (basilar migraine) Vestibular migraine Retinal migraine
Migraine without aura
Menstrual migraine
Patient with Duchenne muscular dystrophy. Other than the musculoskeletal manifestations, name other 4 affected organ systems and 1 specific manifestation for each
Cardiac, cardiomyopathy
Neurologic, intellectual impairment, epilepsy
Respiratory, OSA
GI, dysphagia, constipation and GERD
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?
Cerebral palsy highly associated with PVL
CT: ventriculomegaly, thinning of corpus callosum, absence of PV white matter
PVL becomes porencephalic cysts
. 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.
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
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)?
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)
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)?
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
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)
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
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 ?
this is infantile spasms
EEG for hypsarrhythmia (although can have infantile spasms w/o hypsarrhythmia)
Tuberous Sclerosis
Genetic testing - TSC1 and TSC2
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
GBS
(2) LP: elevated protein, Nerve Conduction: slowed conduction, prolonged f waves. MRI: nonspecific enhancement of spinal cord nerve roots
(3) campylobacter jejuni
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?
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?
HIGH YIELD
meningomyelocele
DMD
RTP
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
all AED can cause irritbility and upset
hence partial seizure - carbamazepine or phenytoin - both of which cannot be used for absence or myoclonic
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
quadaplegie is usally wiht intelectual disability, supranuclear bulbar palsies, pvl,
caused by ischemia, IVH, infxn, genetic cuae, cerebral malformation
hemiplegia usually prenatal insult
workup of developmental delay hearing and vision cbc, lyte, lft, renal genetic= karyotype, fragile x, rett microarray if 1+ mutation mri
regression
loss of prev skill
change in beh or cognition
vision loss when gait issues or seizures
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
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
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
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)
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
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)
