Pediatric Neurology Exam 2016

Front 1

Typical features of idiopathic demyelinating optic neuritis

Back 1

1. Pain around the eye worsen on eye movement, starting before or with visual loss.

2. Unilateral visual loss developing over hours to days, ranging in severity from loss of colour vision to complete visual loss

3. Loss of visual field

4. Relative afferent pupillary defect

5. Normal fundus

6. Evidence of visual improvment by 4 weeks from onset

Front 2

True\false

1. Coloboma always causes reduced vision

2. Cataract can be found in Galactosemia, not in galactokinase def.

3. Peter's anomaly invoves the anterior segment of the eye

4. Pain is always present in demyelinating optic neuritis

Back 2

1. False-only if large enough

2. False-both situations but in the first the baby is sick with poor feeding while in the second the baby is well

3. True

4. False-only in 90%

Front 3

Risk factors to develop ms following demyelinating optic neuritis

Back 3

1. Female

2. Retrobulbar involvment of the optic nerve

3. Peri- venous sheathing

4. No lesions in brain mri at diagnosis suggest 25% chances of developing ms in the next 15 years. Finding 3 or more lesions goes with 78% ms in next 15 years

Front 4

RAPD in optic neuritis

Back 4

* clinical sign in unilateral or a-symetric optic neuritis

* not a specific sign for demyelinating optic neuritis

* no RAPD suggest different etiology than IDON

Front 5

DD for IDON

Back 5

Genetic: Leber's

OPA 1,3, Wolfram syn.

Infectious: usually with involvment of adjacent structures

Inflammatory : NMO, autoimmune ON, sarcoidosis, Bechet, paraneoplastic, orbital psudotumor=Tolosa hunt, neuroretinitis

Vascular: anterior ischemic optic neuropathy with or w/o arteritis

Toxic/nutritional: B12, folate,copper def.

Methanol, etylene glycol, lead

Compressive: thyroid dis, malignancy

Miscellanous

Front 6

NMO-1% of all ON cases

Differenting NMO from IDON is important due to tx. Why?

Back 6

IDON typically resolved w/o tx. NMO requires immunosuppresive drugs.

Tx. With interferon beta can worsen NMO!!!

Front 7

Clues to differentiate NMO from IDON apart of antiaquapurine Ab.

Back 7

1. Bilateral involvment

2. Brain mri- in NMO more then 3 segments of optic nerve are involved.

3. Enhancing lesion >40mm in NMO

4. Antibodies to oligodentrocyte glycoprotein=MOG in pt. Negative to aquapurine antibodies.

Front 8

Sarcoidosis: ON strongly suggest neuronal involvment. Affect 20% of pt. What tests or clinical signs helps in differentiating from IDON?

Back 8

Age at presentation ~40y, female

1. Visual loss is gradual, hence- optic disc pallor is common in first encounter.

2. 75% bilateral involvment, but RAPD is positive due to asymetric dis.

3. Work up includes ACE , chest x ray, gallium scan, LP. After brain mri...

Front 9

Neuroretinitis is not a true ON rather MACULOPATHY. The star appearance of the macula is a late sign.

Back 9

Neuroretinitis in early stages resemble pappilitis

Can be idiopathic, associated w infection:cat scratch, inflamatory: sarcoidosis, polyarteritis nodosa.

Overall, prognosis is good, NO increaesed risk for ms.

Front 10

Leber's hereditary ON

1. Mitochondiral or nuclear gene?

2. Gender ppreferences?

3. Age at presentation?

4. Typical presentation?

Back 10

1. Mitochondrial

2. Male>>women

3. 15-35y

4. Painless, subacute loss of central vision. Starts in one eye and followed by the 2nd is 2-3 months apart.

RAPD is missing!!!

Front 11

LHON and ms goes togather frequently!!

Back 11

Women diagnosed with LHON presents mri typical for ms

Front 12

Red flags considering dd to IDON:

1. Known DM or immunosuprresion

2. Known nasal or orbital dis

3. Autoimmune disorder

4. Cancer

5. Sudden onset of visuall loss

6. Slow proceeding visual loss

7. Severe pain or persistent pain >2 weeks

8. Lack of RAPD

9. Pale disc/swelling

10. Macular star

Back 12

1. Infectious/parainfectious

4. Mellanoma causes paraneoplastic involvment

5. Anterior ischemic optic neuropathy

6. Sarcoidosis

7. Chronic relapsing inflamatory opticneuropathy

8. LHON

9. Arteritic anterior ischemic optic neuropathy

10. Neuroretinitis, hyper tensive retinopathy

Front 13

Which part of the eye is defective in alpha-dystroglycan glycosilation defect?

Back 13

Retinal dysplasia is part of the cobbelstone malformations/muscular dystrophies : walker warburg etc.

Front 14

The boy is blind, deaf and mentaly retarded. Diagnosis?

Genetic?

Back 14

Norrie's disease

X-linked, the product is Norrin

Front 15

describe?

what is the first clinical sign?

what is the greatest risk in this condition?

Back 15

Optic nerve hypoplasia

nystagmus

sudden death due to adrenal insuffiency

Front 16

2 m O with nystagmus, no light response, microcephaly and hypotonia.

diagnosis?

what is the ocular problem?

Back 16

Walker warburg, due to mutation in POMT1 or POMT2=defect in glycosylation of alpha-dystroglycan. Rare, but more common in Ashkenazi jews: 1:50'000 with known mutation.

Pt. have retinal dysplasia, cataracts, optic nerve hypoplasia. the eyes are small=microphtalmia

Front 17

describe?

what is the degree of visual loss?

associated problems?

Back 17

Aniridia

usually blind: 20/200

hypoplasia of photoreceptors and foveal defects (fovea is the pit in the centre of the macula)

del11p13 goes with aniridia and wilm's tumor

Front 18

describe?

genetic changes?

clinical manifestations?

Back 18

Oculo-cutaneous albinism due to OCA2

mutation in P protein located in 15p13 (very near PWS and Angelman's area). P protein produces the black pigment. AR

The most prevalent form, wide spectrum of albinism. as they grow up, more hyperpigmented nevi apear.

visual acquity 20/60 - 20/200

Front 19

Optic disc elevation: dd cn be drusen

Back 19

Drusen: healthy pt. No swelling around, blood vessels are clear. Add visual fields test.

Document drusen for future exam.

Front 20

What signs or symptoms helps us to differentiate true pappiledema?

Back 20

Pulsatile tinnitus

Transient visual obscurations

Refractive error +6

Bilateral diplopia

Family hx. Espc. For drusen

A good sign: the gray/muddy ring around the nerve

Drusen and pappilede!ma can cause nasal defect in visual fields but in pappiledema causes dilation of the blind spot

Front 21

Outcome of Neonatal arterial ischemic event

Back 21

Motor: 89% CP, usually hemiplegic with hand>leg.

Sensory: hemianopsia, difficulties in visu-spatial recognition, facial recognition.

Cognitive: Learning disabilities, norm. intelligence

Speech: delayed in 25%

Epilepsy: 46%~

recurrency of stroke: 1.8%

Front 22

Anisocoria in an asymptomatic pt.

Back 22

Turn off the light, then check reaction to light

25% of the population have a difference of 0.5mm

Which is the abnormal pupil? First- guess, then check.

If both pupils react quickly to light- the small pupil is pathologic and vice versa.

Always ask to see pt. Pics from the past

Front 23

Functional outcome indicators following Neonatal arterial stroke (one is wrong)

Back 23

1. Size of the infarct

2. speech delay

3. bilateral stroke

4. Decreases perfusion in internal capsule by DWI

5. neonatal sz.

Front 24

Urgent presentation of anisocoria-goes with symptoms.

If the large pupil is abnormal???

Back 24

Your concern is aneurism that compress the oculomotor. BUT anisocoria always w deficit in CN Iii plegia.

Pharmacologic dilatation: no reaction to light/convergence/pilocarpine

Front 25

Adies tonic pupil- not common under age of 10.

Back 25

Can be seen w abnormalities in the orbit

Front 26

RAPD: if only one eye doesnt response normaly- the problem is efferent. When BOTH eyes do not constrict or dilate its afferent

Back 26

Techniques to better appreciate: ask the pt. To look up.

Front 27

RAPD in one eye and hemianopsia locate the lesion in the optic tract, after the chiasm

Back 27

RAPD is a sign of any lesion in the system atches the eye

Front 28

For neuro ophtalmologist ct of the orbits is veryuseful.

Back 28

The radiation is 1-2nSv , 1% of the radiation dose in hiroshima

Front 29

which blood vessels are prone to damage from forceps delivery?

Back 29

Venous dural sinuses

Front 30

What is the epileptic syndrome with myoclonic sz. that heralded a favourable prognosis?

Describe features

Back 30

Benign myoclonic epilepsy of infancy

begin: 4m-3y

family hx. ++

Only myoclonic sz.

EEG: no focal discharges, normal background, poly-spikes during sleep

Front 31

Which drugs are not recommended in Dravet? (one is wrong)

Back 31

Tegretol

Phenytoin

Lamictal

Keppra

Front 32

3 yO boy with episodes of "shivering" and drops of the head, lasts 2-3 min. normal development

Back 32

Doose syndrome

Front 33

Neonatal US can demonstrate the following lesions except:

Back 33

1. Thalamic hemmorage

2. Intraventricular hemorrhage

3. Sagital vein thrombosis

4. peripheral arterial stroke

5. Dural sinus thrombosis

Front 34

what are the indications for anti-coagulation therapy in neonatal sinus vein thrombosis?

Back 34

1. Progression of the thrombus

2. multiple emboli

3. compound thromboembolic status (2+ risk factors)

treat for 6 weeks to 3 months

Front 35

Recurrence rate of arterial versus venous thrombosis:

Back 35

arterial >venous

equal

venous>arterial

Front 36

which enzymatic defect in the urea cycle is not AR?

Back 36

ornithine transcarbamoyl transferase is X-linked

Front 37

Female carriers of OTC defect presents with:

Back 37

hyperammonemic episodes, with vomiting and mild stupor.

Mental retardation.

enzymatic activity ranges 5-30%

Front 38

DD for severe hyperammonemia in neonates:

Back 38

1. transient hyperammonemia of newborn (diagnosis per exclusion)

2. Oragnic acidopathy

3. Urea cycle defect

Front 39

anion gap- normal values?

Back 39

Na -(cl+HCO3)= 9 -18

Front 40

diagnosis?

location of the bleeding?

accompanied by:

Back 40

Cephalohematomasub=periostal bleedinglinear fracture- 25%anemiabilirubinemia

Front 41

3 types of seizures described in infantile spasm?

what clinical component in the seizures "modifies" the diagnosis?

Back 41

1. flexor spasm (mothers might interpret the spasm as colic pain)

2. extensor spasm - "moro-like"

3. compound: flexor and extensor

Focal components reduced the likelihood of west syndrome

Front 42

natural history of the spasms:

Back 42

Early: isolated spasms + behavioural change, reduced smile

Peak: groups of spasms lasts 2-3 minutes, cognitive decline and apathy

Convalescent: after 1 y of age - by the age of 5 years all children either are free of sz. or developed diffrent kinds of sz. (LNG)

Front 43

describe the findings?

Back 43

"rolandic spike" with "QRS" configuration in the centro-temporal area.

In 1/3 of pt. the finding is seen only during sleep

Front 44

which of the following increase the risk for recurrent febrile seizures?

Back 44

1. early appearance of 1st sz.

2. family hx. of febrile sz/

3. low temp at time of sz

Front 45

list 3 infectious diseases which trigers febrile convulsions

Back 45

Shigella

Herpes 6

Rota virus

Front 46

diagnosis?

describe

Back 46

occipital spikes, more often during eye closure

Panayotopoulus syn

starts: 2-12y

autonomic features : vomiting, pre-syncope and eye version which develop into CPS or GTC

more common- nocturnal episodes, but can be while awake

remitted following therapy or after 2-3 years.

Front 47

diagnosis

Back 47

Gastaut type- occipital lobe epilepsy

The EEG shows slow spike-wave activity resolved with eye opening. Occasionally- generalized epileptiform activity

starts at age 8 y

visual symptoms: elementary visual hallucinations w or w/o blindness lasts 1-3 min

may go with confusion.

ended with vomiting or head ache or both.

may cont to complex partial sz.

only 60% achieve remission

Front 48

born at term, cord pH=7.0, apgar 6 &9.

D/c from hospital by 24 hours, returned with fits compatible with sz.

Back 48

Neonatal hemmorhagic stroke

75% - unknown reason

often accompanied by hypoglycemia

manifested with encephalopathy or sz. or fetal distress