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NBME 16 Answers

nbme16/Block 4/Question#8 (5.9 difficulty score)
A 24-year-old woman comes to the physician ...
Tuberous sclerosisπŸ”
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 +4 
submitted by medstudent(11),

FA 2020 p. 525.

Ash-leaf spots are pretty pathognomonic for TSC. The subependymal nodules add further support for TSC

bingcentipede  Other symptoms of TSC: "Hamartomas in CNS and skin, Angiofibromas C , Mitral regurgitation, Ash-leaf spots D , cardiac Rhabdomyoma, (Tuberous sclerosis), autosomal dOminant; Mental retardation (intellectual disability), renal Angiomyolipoma E , Seizures, Shagreen patches." Most important is the seizure disorder and the ash-leaf spots, like you said +  
bingcentipede  Other symptoms of TSC: "Hamartomas in CNS and skin, Angiofibromas C , Mitral regurgitation, Ash-leaf spots D , cardiac Rhabdomyoma, (Tuberous sclerosis), autosomal dOminant; Mental retardation (intellectual disability), renal Angiomyolipoma E , Seizures, Shagreen patches." Most important is the seizure disorder and the ash-leaf spots, like you said +