Peds Dz Flashcards
Key signs of Kawasaki’s?
**1/3 of cases will later develop WHAT type of problem?
Acute conjunctivitis; red tongue, erythema, Palm/sole edema
**CARDIAC problems - coronary artery aneurysm: common cause of ACQUIRED heart dz
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
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
T/F: blepharitis is more commonly seen in Down’s pts
True! Most common cause: staph
What is Riley-Day syndrome
AR condition w/ DECREASED corneal sensation/innervation
–> seriously DRY EYE!
You see ptosis in a child. FIRST thing to do? Two types?
Check PUPILS. Need to check for Horners.
Congenital: no lid crease
Acquired: lid crease, look for CAUSE
—birth trauma? Cardiothoracic surgery? Neuroblastoma?
Ptosis, telecanthus, horiz narrowing of palpebral fissure, flattened nasal bridge are all signs of what condition?
Tx?
Blepharophimosis - AD in 50% of cases
-surgery for cosmetis OR if deprivation amblyopia/anomalous head posture
Marcus gun jaw winking in an abnormal syn kinesics b/w which two muscles?
- inheritance?
- will this resolve on its own?
Levator and lateral pterygoid
Abnml eye = ptotic; elevates when jaw is opened
Congenital, sporadic, unilateral, self-resolving
Child is BORN w/ a bluish, distended cyst w/I the lacrimal sac region. (-)inflammation, will spontaneously resolve. Dx?
Dacryocystocele
Most common orbital tumor? (General)
DERMOIDS
-egg-shaped mass in assoc w/ orbital bones; may induce astig
5Y/O child (4-10) presents w/ proptosis x3 days, quickly worsening. (+)lid erythema, ptosis, restricted EOMs, slightly displaced globe. Dx/Tx?
Rhabdomyosarcoma - MALIGNANT
Tx: radiation, chemo. Good long-term prognosis if caught early.
**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 (
**Congenital Glaucoma (megalocornea assn)
Peds: megalocornea = >11.5-12mm
micro think 1) PHPV, or 2) congenital cataract
You see an epi bulbar dermoid in a child you suspect may have Goldenhar’s syndrome. What other key characteristics may you observe?
Facial clefting, microphthalmia, coloboma, strab (Duane’s), NLDO
*ear abnormalities, kidney, heart, intellectual disabilities
Cystinosis = a _____ storage defect d/t excess deposition of cysteine.
Results in which two key ocular findings?
Corneal crystals, pigmentary retinopathy
-systemic: growth retardation, renal failure, decreased skin/hair pigmentation.
Earliest sx of xerophthalmia?
Night blindness (recall: Vit A deficiency)
Three key sx of congenital Glc? Tx?
EEE: extreme PHOTOPHOBIA, EYE rubbing, Epiphora
-REFER to pediatric Glc specialist
Two key differentials to R/O immediately when leukocoria presents:
1) RB 2)cong cataract. Other: CTRRP, GMRC
Most common pediatric ocular neoplasm? Two most common presenting signs?
RETINOBLASTOMA*** (don’t miss)
1) leukocoria (56% - majority)
2) strab (20%)
Etiology/patho of RB Dx? Likely ____ if unilateral, ____ if bilateral.
Avg age of Dx?
Prognosis for survival? (What % survive)
DELETION of RB gene.
Sporadic if uni; inherited if bilat.
Dx age: 18 months
Prognosis: 85-90% survival
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?
Stickler syndrome - AD CT disorder - at higher risk of subsequent RD.
5Y/O male infant pt presents w/ leukocoria. O-scope reveals significant exudation, peripheral telangiectasias. Dx?
Coat’s Dz. Mostly males (75%); may lead to serous RD.
Tx w/ cryo, laser, RD Tx.
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?
LCA- AR, horrible VA (20/200 BCVA)
Tx: gene therapy
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?
CSNB
- AR/X during infancy
- AD later in life
three types of achromatopsia (absent/deficient CONE fxn)?
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
18Y/O pt presents w/ BCVA of 20/40 (slowly deteriorating). Fundus has lost FR (previously noted) and shows subtle pigmented macular atrophy. Dx?
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)
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?
X-linked retinoschisis - worst VA if foveal retinoschisis. May affect CV
S/p fundus, bone spicules, optic atrophy. Dx?
RP. Also (+)vessel attenuation.
Present by 30Y/O. Vit a issue.
Tumor that grows quickly like hemangioma, but does NOT self-regress. Lymphoid in nature
Lymphangioma
Child presents w/ mild axial proptosis, optic atrophy, unilateral decreased VA, some strab.
Disc swelling noted. (+)NF-1 assn. Dx?
ON glioma
Most common solid childhood tumor? Also is most common source of pediatric orbital mets? More common in NF1.
Neuroblastoma.
+)proptosis, Horners possible, papilledema, mets possible, is MALIGNANT and seen in 10-15% of peds cancers
Two craniosynosis syndromes? Cause? Differences?
-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
___% 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?
80%, 70%
-MUST follow closely thru life & educate pts about potential complications!! **
5 month old pt w/ known Dx of leukemia undergoes bone marrow transplantation. What are three key signs you may observe after this procedure?
1) CWS, 2) Cataract, 3) Dry Eye*** (nerve death d/t exposure to radiation)
Typical location of an optic nerve pit?
Inf temp - watch for serous RD (50%) w/ VA loss if macula involved
7 month old presents w/ pendular nystag and head nodding/head turn. Dx? Tx?
Spasmus nutans - disappears by 5Y/O, begign, but MUST r/o pathologic causes (same w/ congenital jerk nystaG)
Which type of nystagmus manifests more obviously when one eye is covered? Which is more likely d/t poor VA
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
Which four conditions can lead to an abnormal ERG? What do they each cause? [CALA]
CSNB: no B-wave (bipolar/mueller)
Albinism: EXCESS SCOTOPIC response
LCA: reduced sco and pho topic responses
Achromatopsia: reduced photopic
Why should you always measure BINOCULAR acuity first in a child w/ nystagmus?
Many cases of nystag have a latent component; must see what is achievable before b/d w/ frosted occluder
Pt presents w/ a “head tilt” - 2 things you should immediately r/o?
1) nystagmus
2) constant strab (A- or V-pattern)
**Neonatal conj is seen in what age group?
-3 types?
Infants LESS THAN ONE MONTH old…
- gonorrhea = 2-5d, bilat/purulent
- chlamydia = 5-14d, random disc.
- HSV = w/i 14d, w/ assoc vesicles
Two common organisms causing cellulitis (preseptal/orbital, but usually preseptal)?
H. influenza,
Strep pneumoniae
-R/O orbital! EOMs full, VA unaffected, etc.
What is the most common cause of a retinal detachment in the pediatric population?
blunt trauma
