Peds Dz

Question 1

Key signs of Kawasaki’s?

**1/3 of cases will later develop WHAT type of problem?

Answer 1

Acute conjunctivitis; red tongue, erythema, Palm/sole edema

**CARDIAC problems - coronary artery aneurysm: common cause of ACQUIRED heart dz

Question 2

3 week old presents to you w/ excessive tearing/mucous discharge on lashes/medial canthus.

Dx?

• commonly causes what secondary infx?
• 80% resolve by __ months

Answer 2

NLDO (2-6 wks)

• commonly causes recurrent conjunctivitis
• 80% self-resolution by 6 months; ABx if 2’ conj exists, otherwise, massage. May need puncture if not gone by 9 months

Question 3

T/F: blepharitis is more commonly seen in Down’s pts

Answer 3

True! Most common cause: staph

Question 4

What is Riley-Day syndrome

Answer 4

AR condition w/ DECREASED corneal sensation/innervation

–> seriously DRY EYE!

Question 5

You see ptosis in a child. FIRST thing to do? Two types?

Answer 5

Check PUPILS. Need to check for Horners.

Congenital: no lid crease
Acquired: lid crease, look for CAUSE
—birth trauma? Cardiothoracic surgery? Neuroblastoma?

Question 6

Ptosis, telecanthus, horiz narrowing of palpebral fissure, flattened nasal bridge are all signs of what condition?

Tx?

Answer 6

Blepharophimosis - AD in 50% of cases

-surgery for cosmetis OR if deprivation amblyopia/anomalous head posture

Question 7

Marcus gun jaw winking in an abnormal syn kinesics b/w which two muscles?

• inheritance?
• will this resolve on its own?

Answer 7

Levator and lateral pterygoid

Abnml eye = ptotic; elevates when jaw is opened

Congenital, sporadic, unilateral, self-resolving

Question 8

Child is BORN w/ a bluish, distended cyst w/I the lacrimal sac region. (-)inflammation, will spontaneously resolve. Dx?

Answer 8

Dacryocystocele

Question 9

Most common orbital tumor? (General)

Answer 9

DERMOIDS

-egg-shaped mass in assoc w/ orbital bones; may induce astig

Question 10

5Y/O child (4-10) presents w/ proptosis x3 days, quickly worsening. (+)lid erythema, ptosis, restricted EOMs, slightly displaced globe. Dx/Tx?

Answer 10

Rhabdomyosarcoma - MALIGNANT

Tx: radiation, chemo. Good long-term prognosis if caught early.

Question 11

**An infant presents w/ a relatively large cornea, ~12mm. What should you IMMEDIATELY r/o?

What two conditions should come to mind if you see a relatively SMALL cornea (

Answer 11

**Congenital Glaucoma (megalocornea assn)

Peds: megalocornea = >11.5-12mm

micro think 1) PHPV, or 2) congenital cataract

Question 12

You see an epi bulbar dermoid in a child you suspect may have Goldenhar’s syndrome. What other key characteristics may you observe?

Answer 12

Facial clefting, microphthalmia, coloboma, strab (Duane’s), NLDO

*ear abnormalities, kidney, heart, intellectual disabilities

Question 13

Cystinosis = a _____ storage defect d/t excess deposition of cysteine.

Results in which two key ocular findings?

Answer 13

Corneal crystals, pigmentary retinopathy

-systemic: growth retardation, renal failure, decreased skin/hair pigmentation.

Question 14

Earliest sx of xerophthalmia?

Answer 14

Night blindness (recall: Vit A deficiency)

Question 15

Three key sx of congenital Glc? Tx?

Answer 15

EEE: extreme PHOTOPHOBIA, EYE rubbing, Epiphora

-REFER to pediatric Glc specialist

Question 16

Two key differentials to R/O immediately when leukocoria presents:

Answer 16

1) RB 2)cong cataract. Other: CTRRP, GMRC

Question 17

Most common pediatric ocular neoplasm? Two most common presenting signs?

Answer 17

RETINOBLASTOMA*** (don’t miss)

1) leukocoria (56% - majority)
2) strab (20%)

Question 18

Etiology/patho of RB Dx? Likely ____ if unilateral, ____ if bilateral.

Avg age of Dx?

Prognosis for survival? (What % survive)

Answer 18

DELETION of RB gene.

Sporadic if uni; inherited if bilat.

Dx age: 18 months

Prognosis: 85-90% survival

Question 19

3 Y/O presents w/ a highly myopic refractive error, a relatively flat face, hearing loss, joint problems, and intellectual disability. Dx? What is it?

Answer 19

Stickler syndrome - AD CT disorder - at higher risk of subsequent RD.

Question 20

5Y/O male infant pt presents w/ leukocoria. O-scope reveals significant exudation, peripheral telangiectasias. Dx?

Answer 20

Coat’s Dz. Mostly males (75%); may lead to serous RD.

Tx w/ cryo, laser, RD Tx.

Question 21

Mom presents w/ 2 month-old child that is visually inattentive, has a mild nystagmus, hyperopic refractive error, poor pupillary light response. Fundus looks relatively nml w/ few white flecks. Dx?

Answer 21

LCA- AR, horrible VA (20/200 BCVA)

Tx: gene therapy

Question 22

Which condition presents w/ reduced night vision, variable vision loss, is non-progressive, inherited (AR, X, or AD), a relatively normal fundus appearance, but a reduced SCOTOPIC response on ERG (Photopic nml). Dx?

Answer 22

CSNB

• AR/X during infancy
• AD later in life

Question 23

three types of achromatopsia (absent/deficient CONE fxn)?

Answer 23

1) Rod mono - AR; worst VA (20/200, complete color blindness), high hyperopia, nystag, photophobia
2) incomplete a - AR (similar to rod mono but better prog (20/80-120)
3) Blue cone mono - XLR; nml blue fxn, no R/G fxn

Question 24

18Y/O pt presents w/ BCVA of 20/40 (slowly deteriorating). Fundus has lost FR (previously noted) and shows subtle pigmented macular atrophy. Dx?

Answer 24

Stargardt’s (fundus flavimaculatus)

20/200 by 30 y/o..progressive.

Initially presents @ 8-14Y/O, later lose FR and macula atrophies (lipo slowly accumulates w/I macula)

Question 25

Male presents w/ slowly deteriorating vision over several years. Fundus findings seen bilaterally, but asymmetric. Appearance: spoke-like. VA initial: 20/70 VA deteriorating to 20/200 @ worst. Dx?

Answer 25

X-linked retinoschisis - worst VA if foveal retinoschisis. May affect CV

Question 26

S/p fundus, bone spicules, optic atrophy. Dx?

Answer 26

RP. Also (+)vessel attenuation. Present by 30Y/O. Vit a issue.

Question 27

Tumor that grows quickly like hemangioma, but does NOT self-regress. Lymphoid in nature

Answer 27

Lymphangioma

Question 28

Child presents w/ mild axial proptosis, optic atrophy, unilateral decreased VA, some strab. Disc swelling noted. (+)NF-1 assn. Dx?

Answer 28

ON glioma

Question 29

Most common solid childhood tumor? Also is most common source of pediatric orbital mets? More common in NF1.

Answer 29

Neuroblastoma. | +)proptosis, Horners possible, papilledema, mets possible, is MALIGNANT and seen in 10-15% of peds cancers

Question 30

Two craniosynosis syndromes? Cause? Differences?

Answer 30

-premature closure of cranial sutures resulting in abnml face/cranial vault Apert: abnml face (mid facial hypoplasia, breathing probs, cleft palate, dev. Delay, proptosis, XT, hypertelorism, optic atrophy, KC, Glc Crouzon: abnml face (mid facial hypoplasia, anteroposterior SHORTENING of skull w/ steep forehead, SHALLOW orbits that are widely separated/laterally rotated) -proptosis, V-pattern XT, optic atrophy, Glc, blue sclera

Question 31

___% of type 1 diabetics will develop retinopathy by 15 yrs __% of type 1 diabetics will develop PROLIFERATIVE ret @ some point **KEY thing to remember regarding education of DM pts?

Answer 31

80%, 70% -MUST follow closely thru life & educate pts about potential complications!! ****

Question 32

5 month old pt w/ known Dx of leukemia undergoes bone marrow transplantation. What are three key signs you may observe after this procedure?

Answer 32

1) CWS, 2) Cataract, 3) Dry Eye*** (nerve death d/t exposure to radiation)

Question 33

Typical location of an optic nerve pit?

Answer 33

Inf temp - watch for serous RD (50%) w/ VA loss if macula involved

Question 34

7 month old presents w/ pendular nystag and head nodding/head turn. Dx? Tx?

Answer 34

Spasmus nutans - disappears by 5Y/O, begign, but MUST r/o pathologic causes (same w/ congenital jerk nystaG)

Question 35

Which type of nystagmus manifests more obviously when one eye is covered? Which is more likely d/t poor VA

Answer 35

Latent - cover one eye- use frosted occluder Sensory - poor VA If known/suspicious of neuro origin as cause of nystag --> MUST r/o intracranial pathology and have neuroimaging done

Question 36

Which four conditions can lead to an abnormal ERG? What do they each cause? [CALA]

Answer 36

CSNB: no B-wave (bipolar/mueller) Albinism: EXCESS SCOTOPIC response LCA: reduced sco and pho topic responses Achromatopsia: reduced photopic

Question 37

Why should you always measure BINOCULAR acuity first in a child w/ nystagmus?

Answer 37

Many cases of nystag have a latent component; must see what is achievable before b/d w/ frosted occluder

Question 38

Pt presents w/ a "head tilt" - 2 things you should immediately r/o?

Answer 38

1) nystagmus | 2) constant strab (A- or V-pattern)

Question 39

**Neonatal conj is seen in what age group? -3 types?

Answer 39

Infants LESS THAN ONE MONTH old... - gonorrhea = 2-5d, bilat/purulent - chlamydia = 5-14d, random disc. - HSV = w/i 14d, w/ assoc vesicles

Question 40

Two common organisms causing cellulitis (preseptal/orbital, but usually preseptal)?

Answer 40

H. influenza, Strep pneumoniae -R/O orbital! EOMs full, VA unaffected, etc.

Question 41

What is the most common cause of a retinal detachment in the pediatric population?

Answer 41

blunt trauma