Archive Of Standardized Exam Questions: Tuberous Sclerosis

OVERVIEW

This page is dedicated to organizing various examples of standardized exam questions whose answer is tuberous sclerosis. While this may seem a odd practice, it is useful to see multiple examples of how tuberous sclerosis will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a tradition question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a disease is quite valuable.

KEY CHARACTERISTICS OF THIS CONDITION (ON EXAMS)

When it comes to standardized exams, each topic has its own “code” marked by key buzzwords, lab findings, clues, etc. If you are well versed in this code you will be able to more quickly identify the condition that is being discussed, and get the right answer on the exam you are taking. Below is the “code” for tuberous sclerosis

  • Ash leaf spots: areas of hypo-pigmentation on the body (these are VERY SPECIFIC to this condition)
  • Intracranial tubers: these can be imaging findings that are often calcified. 
QUESTION EXAMPLES

Question # 1

A 6 month old boy is brought to the clinic because of experiencing unprovoked started like movements for the past week. Each of the movements are characterized by sudden flexion of the head/arms/legs. He cries during thee moments, which often occur in clusters after he awakens from sleep. His medical record notes that he has had a heart murmur since birth. His family history is notable for his father having mild mental impairment. A dermatological exam shows three areas of hypo-pigmentation on his body that are each 1-2 cm in size. A CT scan of the head reveals four periventricular nodules that distort the normally smooth ventricular margins. What is this patient’s most likely diagnosis?

Explanation # 1

Ash leaf spots + intracranial tubers = tuberous sclerosis

Question # 2

Explanation # 2

TESTABLE FACTS ABOUT THIS TOPIC (BEYOND ITS IDENTIFICATION)

Many questions on standardized exams go beyond simply recognizing the underlying topic. Often there are specific testable facts regarding some aspect of the topic’s pathophysiology/management/clinical implications that are commonly asked. Some of these are listed below:

 

 

Page Updated: 11.06.2016