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NBME 22 Answers

nbme22/Block 2/Question#50 (31.9 difficulty score)
An 18-month-old boy is admitted to the ...
Tuberous sclerosis complex🔍

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submitted by d_holles(137),
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hTis oivde anpexsli het icerdtpai ortauunnueecos derrosisd wl.el


cBysalali het eky heer is gmpyehitpdeon euacsml. NF1 sah cefa ua aelit opsts eree(dygppinmth seua)lmc elwih CTS hsa sah ealf ostsp ngemeh(dyoptpi )cas.eulm isTh is a edoedc eth orzbdzwu yslte soqteni.u I etfl ilek I 'dditn raelyl snnerauddt teseh eordrs tlinu I wchtade eth aeobv iedv.o

pg32  I figured this out for a few reasons. The hypopigmented patches are ashleaf spots and the raised, flesh-colored lesion on the back is a Shagreen patch (only seen in TSC). Multiple brain lesions = hamartomas. Additionally, NF1 has 100% penetrance, though it also has variable expressivity, meaning if it were NF1 we would probably see some family history of similar symptoms. +3  
castlblack  Agree. CAFESPOTS Cafe-au-lait, Axillary Freckles, Eye (Lisch nodules), Sarcoidosis, Pheo, Optic Tumor (glioma), Seizures +  
rockodude  the video is very helpful +  

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submitted by armymed88(48),
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ogpntdeypeHmi sonleis errfe to -lfsAhae p,tsso CNS ssolien eiyllk ahtaomamrs . ST osal odecatisas hwti usesi.erz

fcambridge  How is Tuberous Sclerosis the most likely given that it is an AD disorder and there is no family history of "seizure disorder or major medical illnesses"? +2  
d_holles  @fcambridge variable expressivity of TSC allows for many different phenotypes. +1  

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submitted by bubbles(60),
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naC meosone uodlc xapilen ot me who iths is iulqulcyonvae besurout ssorielcs etpdesi NF1- nad eWterSrbegu- osal stnnierpeg tihw knis esnis,ol eetphymnpdogi lem,ascu dna ?reuzsesi

dAn gicnordnsei het vtgeeani yiflam iyost,rh I wudlo evah dueassm htat a icpsorda ountiatm k(eli SW) odlwu be meor .e.llyi.k

cocoxaurus  This question was tricky! Tuberous sclerosis= Hypopigmented= Ash leaf spot (The skin lesion in NF is Hyperpigmented- Cafe au lait and in Sturge Weber it's a port wine stain (also not hypopigmented). I'm assuming that the SINGLE raised flesh colored lesion is a Hamartoma (The angiofibromas in NF1 are typically multiple). Although both Tuberous Sclerosis and Sturge Weber are both associated with seizures, I used all the other stuff to narrow it down to the correct answer. Also, don't forget that there is Incomplete penetrance and variable expressivity in Tuberous Sclerosis. So I think the lack of family history of "seizure or major medical illness" was there to throw us off. +18  
bubbles  Thank you! :) I thought I really knew my congenital disorders, so I was a little annoyed when they trotted this question out +5  
pg32  @cocoxaurus I believe the single raised flesh-colored lesion is actually a Shagreen patch, which helps you arrive at TSC as the diagnosis. +1  

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submitted by diabetes(15),

i was hesitated between neurofibromatosis type1 and tuberous sclerosis ,the two have skin + brain lesions ,AD,but the first has 100% penetrance ,optic gliomas ,hperpigmented cafe-au-lait spots,no seizure,so seond is the answer.