Neuro

Question 1

Breath holding attack

Answer 1

Toddlers with temper
Cry, hold breath, hypoxia, cyanosis, may briefly lose consciousness

Behavior modification therapy and distraction

Question 2

Myoclonic seizures

Answer 2

Brief, oft repetitive, jerking movements of limbs, neck, or trunk

Question 3

Generalized seizures

Answer 3

Always LOC, no warning, symmetrical seizure, B/L synchronous activity on EEG or varying asymmetry

Question 4

Absence seizures

Answer 4

Transient LOC, abrupt onset and termination
No motor phenomena except flickering eyelids or minor alteration in tone
Can be precipitated by hyperventilation

Few seconds, multiple, often not doing well at school. “Dazing out”, “daydreaming”

Question 5

Tonic clonic seizures

Answer 5

Rhythmic muscle contractions following tonic phase. May fall to ground during tonic phase, do not breathe. May become cyanosed.
Clonic phase has irregular breathing, cyanosis may persist, saliva may accumulate.
Tongue biting, urinary incontinence may be a feature

Question 6

West syndrome

Answer 6

4-6mo.
“Salaam spasms”: violent flexing of neck followed by hyperextension shoulders (watch a youtube video–easier to see than explain)
1-2s oft in multiple bursts of 20-30, often on waking
May occur throughout day
Social interaction often deteriorates

Question 7

Tx-West Syndrome

Answer 7

Vigabatrin, steroids

Note “gaba” in vigabatrin…helps remember MOA :)

Question 8

Lennox-Gastaut syndrome

Answer 8

1-3 years. Multiple seizure types, mostly drop attacks, tonic clonic, and atypical.
Neurodevelopmental arrest or regression and behavior disorder

Question 9

Benign epilepsy with centrotemporal spikes

Answer 9

4-10 years
Tonic clonic seizures in sleep or simple focal seizures with awareness abnormal feelings in tongue and distortion in face
15% childhood epilepsies
Does not always require treatment-almost all remit in adolescence

Question 10

Juvenile myoclonic epilepsy

Answer 10

Adolescence-adulthood
Myoclonics but generalized tonic-clonic and absences may occur.
Usu after waking
Typical hx of throwing drinks and cornflakes

Question 11

First line treatment for all generalized seizures

Answer 11

Valproate

Can also use ethosuximide for absence

Question 12

Second line for all generalized seizures

Answer 12

Lamotrigine

Question 13

First line for focal seizures

Answer 13

Carbamazepine, valproate.

Lamotrigine good efficacy, but titrate slowly

Question 14

Side effects carbamazepine

Answer 14

Rash, neutropenia, hyponatremia, ataxia

Question 15

Side effects valproate

Answer 15

Weight gain, hair loss

Rare idiosyncratic liver failure

Question 16

Management status epilepticus

Answer 16

1. Call for help
2. ABC
3. Glucose
4. If vasc access: 0.1mg/kg lorazepam. Repeat if not working
   No vasc access: 0.5mg/kg buccal midazolam or 0.5mg/kg PR diazepam.
5. Paraldehyde 0.4mL/kg PR
   If no response, SENIOR HELP
6. Phenytoin 18mg/kg IV over 20min or phenobarb 15mg/kg if already on oral phenytoin

Question 17

Reflex anoxic seizures

Answer 17

Infants/toddlers
Pain or discomfort (e.g. minor head trauma, fever, fright, cold food) causes them to go pale, then lose consciousness. May have tonic clonic.
Due to cardiac asystole from vagal inhibition
Spontaneous resolution

Question 18

Febrile convulsions

Answer 18

6mo-6years
Rapid increase in temperature (not prevented by antipyretics)
3% kids
If complex, increases risk subsequent epilepsy.
30-40% chance will have another

Ix: BM, cause of fever, rule out meningitis

Question 19

Noncommunicating hydrocephalus

Answer 19

Obstructive lesion

Question 20

Communicating hydrocephalus

Answer 20

Problem of arachnoid villi absorbing CSF

Question 21

Causes non-communicating hydrocephalus

Answer 21

Congenital: aqueductal stenosis, Dandy Walker, Arnold Chiari
Posterior fossa neoplasm or vascular malformation
Intraventricular hemorrhage in preterm

Question 22

Treatment hydrocephalus

Answer 22

Ventricular shunt

Question 23

Key feature neuromuscular diseases

Answer 23

Weakness

Question 24

Presentation of anterior horn cell problems

Answer 24

Weakness, loss of reflexes, fasciculation, wasting

Question 25

Diseases that affect anterior horn cells

Answer 25

Polio SMA ALS

Question 26

Presentation neuropathy

Answer 26

Often distal nerves | Weakness, loss of reflexes, sensory loss, temperature change

Question 27

presentation myopathy

Answer 27

Weakness, wasting, changes in gait

Question 28

Presentation of neuromuscular junction disorders

Answer 28

Worsening of weakness throughout day

Question 29

Ix for myopathy

Answer 29

``` CK (increased in Duchenne's, Becker's) Muscle biopsy USS muscles MRI muscles DNA testing ```

Question 30

Ix-neuropathy

Answer 30

Nerve conduction studies DNA testing EMG differentiates myopathy vs neuropathy

Question 31

Spinal muscular atrophy (SMA)

Answer 31

AR degeneration of anterior horn cells Type I=Werdnig Hoffman (worst type). Death from resp failure by age 1 Presents as floppy baby

Question 32

Hereditary motor sensory neuropathies

Answer 32

E.g. Charcot-Marie-Tooth Demyelinating neuropathy Nerves may be hypertrophic due to attempts at remyelinization Onion bulb on nerve biopsy Distal atrophy Pes cavus Rarely distal sensory loss and decreased reflexes

Question 33

Guillain Barre Syndrome

Answer 33

Acute immune polyradiculopathy Ascending symmetrical weakness, loss reflexes, and autonomic involvement Sensory sxs less striking than paresis but can be initial sxs and unpleasant Bulbar involvement can cause unsafe swallow 25% have resp muscle involvement Supportive tx, esp resp support 95% fully recover but may take up to 2y

Question 34

Bell's palsy

Answer 34

LMN problem, CN VII Probably post-infectious (HSV) Roids in 1st week may decrease edema Main complication is conjunctival infection (incomplete eye closure/blinking)--eye patch If both CN 7 and 8---think compressive lesion at cerebellopontine angle If vesicles and CN 7, give acyclovir Associated with coarc, so take BP both arms If B/L suspect sarcoid, Lyme Recovery complete in most, but may take several months

Question 35

Tension headache

Answer 35

Band of pressure/tightness, "vice" around head | Gradual onset

Question 36

Migraine

Answer 36

Paroxysmal, often unilateral Throbbing GI disturbances-N&V, abdo pain common, visual problems Sleep often relieves 90% without aura; 10% with 1-2% complicated--other neuro signs, altered sensation

Question 37

Causes acute headache

Answer 37

``` Febrile illness Migraine Stress Acute sinusitis Meningitis/encephalitis Head injury Subarachnoid hem, intracerebral hem Benign intracranial hypertension Drugs (EtOH, solvents) Others, e.g. ice cream ```

Question 38

Headache sxs due to space occupying lesion

Answer 38

Worse on lying down Morning vomiting Night time awakening Mood change, personality, or educational performance change. Others" visual field defects, CN abnormalities, abn gait, torticollis, growth failure, papilledema, cranial bruits

Question 39

Tx-headaches

Answer 39

``` Psych support if needed Relaxation techniques Analgesia (NSAIDs) Anti-emetics (prochlorperazine, metoclopramide) Intranasal sumatriptan ```

Question 40

Temporal lobe seizures-prodrome

Answer 40

May have aura with taste/smell abnormalities and distortions in sound/shape. Lip smacking, plucking clothing, automatisms

Question 41

Parietal lobe seizures

Answer 41

C/L dysasthesias (altered sensation) or distorted body image

Question 42

Ataxia-definition

Answer 42

Incoordination movement, speech, and posture | Can be due to cerebellar or posterior sensory problems

Question 43

Causes cerebellar ataxia

Answer 43

Medication/drugs (EtOH, solvents) Post-viral (varicella) Posterior fossa lesions (medulloblastoma) Genetic disorders (Friedreich's ataxia, ataxic CP, Ataxia-Telangiectasia)

Question 44

Friedreich's ataxia

Answer 44

AR tri-nucleotide repeat in frataxin gene Worsening ataxia, distal leg wasting, absent lower limb reflexes, pes cavus, dysarthria Evolving kyphoscoliosis and cardiomyopathy can cause cardiorespiratory death at 40-50 years

Question 45

Ataxia Telangiectasia

Answer 45

AR disorder in DNA repair. ATM gene Motor delay in infancy, oculomotor problems with incoordination and delay in ocular pursuit objects Difficult balance and coordination by school age Deterioration...dystonia and cerebellar signs Telangiectasias in conjunctive, neck,, shoulder Increased infections (IgA defect) ALL in 10% Increased white cell sensitivity to irradiation

Question 46

Causes stroke in childhood

Answer 46

Cardiac: congenital heart disease, e.g. TOF Heme: sickle cell, deficient anti-thrombotic factors (e.g. Protein C) Inflamm/AI: SLE Metabolic: homocystinuria, mitochondrial (MELAS) Vascular: moyamoya Post-infection, e.g. varicella

Question 47

NTDs

Answer 47

Failure fusion neural plate in first 28 days. | Includes anencephaly, spina bifida occulta, meningocele, myelomeningocele

Question 48

Anencephaly

Answer 48

Failuere most cranium and brain to develop

Question 49

Spina bifida occulta

Answer 49

Failure fusion vertebral arches. May have overlying skin lesion, e.g. tuft of hair

Question 50

Encephalocele

Answer 50

Extrusion brain and meninges from midline skull defect

Question 51

Meningocele

Answer 51

meninges herniate. | Good prognosis with sx

Question 52

Myelomeningocele

Answer 52

Can cause wide range problems, e.g. paralysis legs, muscular imbalance leading to hip dislocation, sensory loss, bladder and/or bowel denervation, scoliosis, hydrocephalus (Arnold Chiari)

Question 53

Juvenile myasthenia

Answer 53

Ab against AChR on post junctional synaptic membrane After 10 years age Ophthalmoplegia, ptosis, loss facial expression, difficulty chewing Generalized (esp proximal) muscle weakness Tx: anticholinesterases, e.g. neostigmine, pyridostigmine Pred, azathioprine Plasma exchange if severe

Question 54

Duchenne's muscular dystrophy

Answer 54

XR. Deletion dystrophin gene 1/4000 male infants Present with waddling gait or language delay. Mount stairs one at time Calf pseudohypertrophy, no longer ambulant by 10-14 Death by late teens-20s (resp failure, cardiomyopathy) 1/3 have learning disability Scoliosis common Increased CPK

Question 55

Treatment-Duchenne's

Answer 55

``` Appropriate exercise. Prevent ankle contractures with passive stretching and night splints Orthoses CPAP at night if nocturnal hypoxia Steroids 10d/month ```

Question 56

Becker's muscular dystrophy

Answer 56

Truncated dystrophin gene | Similar to Duchenne's but slower progression

Question 57

Benign acute myositis

Answer 57

Post-viral (URTI) Pain and weakness Increased CPK

Question 58

Dystrophia myotonica

Answer 58

Trinucleotide expansion newborns: hypotonia, feeding/resp difficulties Older kids: myopathic facies, LD, myotonia Adults: cataracts. Males have baldness and testicular atrophy Death from cardiomyopathy

Question 59

Causes of floppy baby

Answer 59

``` Hypoxic-ischemic encephalopathy Cortical malformations Downs Prader Willi Hypothyroidism, hypocalcemia SMA, myopathy,myotonia, MG ```

Question 60

NFI

Answer 60

``` 1/3000 AD. Highly penetrant Cafe-au-lait spots Axillary freckling Optic gliomas Lisch nodules (slit lamp examination) Bony lesions from sphenoid dysplasia ```

Question 61

NF2

Answer 61

Less common than NF1 presents in adolescence B/L acoustic neuromas--deafness, possibly cerebellopontine angle syndrome

Question 62

Tuberous sclerosis

Answer 62

``` AD Ash leaf spots Shagreen patches (rough patches skin, usu lumbar spine) Adenoma sebaceum (angiofibroma)-butterfly distribution Infantile spasms, devel delay Epilepsy, oft focal Oft autistic features when older Rhabdomyomata in heart Polycystic kidneys ```

Question 63

Sturge Weber

Answer 63

Port wine stain ("hemangiomatous facial lesion") in trigeminal nerve distribution (always involving opthalmic division) Railroad track calcifications (gyri) on skull CT In most severe form-epilepsy, LD, hemiplegia

Question 64

Tay Sachs

Answer 64

``` Defect in hexosaminidase A AR. Ashkenazi Jews Cherry spot on macula, devel regression, exaggerated startle response Severe hypotonia, enlarging head Death 2-5yrs Prenatal detection possible ```

Question 65

Gaucher's

Answer 65

Defect in Beta-glucosidase Ashkenazi Jews Splenomegaly, bone marrow suppression, bone involvement Normal IQ

Question 66

Niemann Pick

Answer 66

Defect in sphingomyelinase At 3-4months: feeding difficulty, FTT, HSM, devel delay, hypotonia, decreased hearing and vision Cherry red spot on macula (50%) Death by age 4

Question 67

Subacute sclerosing panencephalitis

Answer 67

Complication of past measles infection | Neuro regression in adolescence, characteristic EEG