Eye stuff
Skin stuff
Heart stuff
Pop culture stuff
100

While rounding on a patient admitted for seizure disorder, you note that in addition to having 8 café au lait macules, she has the following finding on exam. What is the most likely diagnosis?

NF1

These are Lisch Nodules aka iris harmatomas. The cafe au lait spots + >2 lisch nodules meets criteria for NF1

100

15-year-old male is being worked up for chronic arthralgias and muscle weakness. His labs are remarkable for increased aldolase and his exam is significant for the following. What is the most likely diagnosis?

Juvenile Dematomyositis

The skin findings are Grotton Papules, ie "red, often scaly, bumps overlying the knuckles of the fingers"

Other skin findings in JDM include


100

You are called by the nurse to look at an EKG for a 12 yo M admitted to stepdown unit s/p open heart surgery. He started having chest pain 24H after his surgery. The EKG shows the following. What is the most likely diagnosis?

Pericarditis

The EKG shows diffuse ST elevations and PR depressions

100

Night show host Jimmy Kimmel shared on his show that his son was diagnosed with a congenital heart disorder. Typical symptoms include cyanosis when upset or crying. EKG may show right ventricular hypertrophy. What is the name of this disorder?

Tetralogy of Fallot

200

Upon examination of a new patient, you notice that they have upslanting palpebral and this iris finding. What is the most common congenital heart defect in this population?

Complete AV Canal Defect


These white spots in the periphery of the iris are Brushfield Spots seen in Trisomy 21.


200

You are examining a newborn when mom asks about the rash on one side of his face. His 5-year-old brother pictured below has a similar “rash”. In addition to brain imaging, what other subspecialist should this newborn be referred to for an exam and lifelong monitoring?

Ophthalmology

This is a port wine stain in the facial distribution that includes the eye. This is concerning for Sturge Weber syndrome and they should have close monitoring for hemangiomas that involve the eye.

200

A 16 yo basketball player suddenly collapses during drills. During attempted resuscitation by paramedics, the following EKG is seen. What genetic syndrome is this tachycardia most associated with?

Long QT syndrome 

The EKG shows the twisting pattern of Torsades de point

200

This former Pittsburgh Steelers linebacker publicly discussed the medical name for his baldness  - characterized as areas of complete hair loss without scarring and “exclamation point hairs”. What is this condition called?

Alopecia Areata 

300

A teenager with recent depression diagnosis  is found to have hepatomegaly and this finding on eye exam. When you obtain a workup, would you expect the following to be high or low?

  • Serum ceruloplasmin ___
  • Serum copper ____
  • Urine copper ____


  • Serum ceruloplasmin low
  • Serum copper low
  • Urine copper high

This is Kayser Fleisher rings seen in Wilson's disease, a disorder copper export from the cells.

300

A 13 yo M presents to the ED with 3 days of fever and malaise. His exam is unremarkable with the exception of the following rash. What electrolyte abnormality would you expect to find on lab work up?

Hyponatremia 

This is Rocky Mountain Spotted fever (*aka Rickettsia rickettsii).

Can also see thrombocytopenia and transaminitis

300

This finding , called the “Snowman sign” represents pulmonary venous congestion and right heart enlargement in what cyanotic congenital heart defect?

Total Anomalous  Pulmonary Venous Return

  • Either all or some of the pulmonary veins fail to drain into the left atrium --> pulm venous blood drains circuitously via persistent embryonic channels and ultimately drains into the right atrium, resulting in right heart enlargement
300

This celebrity publicly announced he had Ramsey Hunt Syndrome which is characterized by vesicular rash along the external ear, otalgia and ipsilateral paralysis of what nerve?

Cranial Nerve 7

  • Caused by herpes zoster involving the geniculate ganglion
  • Systemic steroids and oral acyclovir aqr erecomended
  •  50% of patients may not recover their facial nerve function
400

A 10-year-old male presents with a week of low-grade fever and malaise after having a dental procedure last week. You perform fundoscopic exam and see the following. What is the most likely pathogen to be isolated on blood culture?

Strep Viridans.

These are Roth spots (aka retinal hemorrhages), which are along with Osler nodes and Splinter hemorhages, manifestations of SUB-acute endocarditis.

Strep Viridans is the most common pathogen in SUB acute endocarditis

Staph auresus is the most common pathogen in ACUTE endocarditis

400

You are urgently called to evaluate a 6-hour-old infant in the full term nursery for a rash. The patient’s vitals are within expected parameters and she has initiated breastfeeding. You notice this on exam. Maternal serologies are unremarkable and no genital lesions were noted on admission.  What is the most likely diagnosis.

Transient Neonatal Pustular Melanosis 

Can be mistaken for Herpes, more common in black newborns. Describes as "superficial vesciculopustules overlying the neck, forehead, and lower back associated with scattered hypopigmented macule"

400

Upon examining a newborn in the nursery, you hear a 3/6 severe systolic murmur consistent with tricuspid regurgitation. You obtain an echo, which has findings similar to the image below. What medication was the patient’s mother likely taking during her pregnancy?

Lithium

This is Epstein anomaly, described as "apical displacement of the tricuspid valve with adherence of the septal and posterior leaflets to the myocardium and "atrialization of the inlet portion of the right ventricle"."


400

This singer/actress has publicly shared her public battle with SLE and revealed that she takes hydroxychloroquine and steroids. What vaccines are contraindicated in this case?

MMR

Varicella

Nasal Flu vaccine (live attenuated)

Do not give live vaccine to immune-compromised patients! You can, however give live vaccines to siblings or family members of immune compromised patients - The exception is the nasal flu vaccine!

500

You see a10 day old for their weight check and mom wants you to examine their eyes due to progressive bilateral redness and tearing. What would be the recommended treatment for this child?

Oral erythromycin.

This is presumed Chlamydia Ophthalmia Neonatorum

  • If symptoms start within 2-5 days, it is likely 2/2 Neisseria gonorrhea
  • Symptoms that begin within 5-12 days are most likely 2/2 chlamydia trachomatis 
    • There is an association       between erythromycin and pyloric stenosis in infants < 6 weeks 
500

A 6 yo presents to clinic with the following fining on his scalp. He has a history of flaky scalp but due to his social situation, has not had appropriate treatment. How would you treat this patient?

Griseofulvin for 6 weeks 

Tjis is a Kerion, or fungal infection of the hair follicle. Describes as "localized alopecia, redness, exudative discharge and bogginess"


Terbinafine and fluconazole are alternative treatments

500

An 18 yo male with a history of an unrepaired VSD presents to the ED after a syncopal event. You note a holosystolic murmur at the LLSB, cardiac enlargement on CXR and the following fining. What is the name of the syndrome for this patients clinical and radiographic findings?

Eisenmenger Syndrome

The photos shows clubbing, a sign of pulmonary hypertension.

500

This member of the girl group TLC has been public about diagnosis with sickle cell disease. What is the earliest age at which patients with sickle cell can and should receive vaccination with 23 valent pneumococcal vaccine?

24 months 

  • Prevnar (13/15 valent) is  given at 2/4/6/12 months 
  • 23 valent is recommended > age 2 in pts who ar immunocompromised, have sickle cell, cochlear implant etc
    • Can only be given 8 weeks after Prevnar is completed
    •  Give second dose 5 years later in pts with functional asplenia or SCD - those with cochlear implants or chronic illnesses do not need 2nd dose