Rare Diseases Case Challenges

• A 41-Year-Old on Sildenafil With a Headache While Sleeping A 41-year-old man presents with severe frontal headache that began suddenly and awakened him from sleep. The headache is associated with nausea, vomiting, and subjective fevers. What's the diagnosis?
  Medscape, August 22, 2022
• A Woman With Back, Chest Pain After Eating Wings at a Restaurant A 60-year-old woman presents with nausea, vomiting, diarrhea, abdominal pain, and chest pain. What is the most likely diagnosis?
  Medscape, May 31, 2022
• An Incarcerated 24-Year-Old With Dyspnea, Fatigue, and Nausea A 24-year-old man presents with symptomatic anemia. His primary symptoms are exertional dyspnea, generalized fatigue, and some mild chronic nausea. What's the diagnosis?
  Medscape, March 18, 2022
• 17-Year-Old With Hair Loss, Dysmenorrhea, Thrush, and Diarrhea A 17-year-old girl presents with a history of oral fungal infections, diarrhea, recurrent abdominal pain, vomiting, dizziness, darkening of the skin and oral cavity, and fever. What is the diagnosis?
  Medscape, March 15, 2022
• A 16-Year-Old Girl With Full-Body Rash, Dyspnea, and Swelling A 16-year-old girl presents with generalized pruritus, eye swelling, a full-body rash, and shortness of breath after playing basketball at school. What's the diagnosis?
  Medscape, January 19, 2022
• A Nonverbal 33-Year-Old Woman With Intellectual Impairment A 33-year-old woman is seen with her caregivers. She has profound intellectual impairment and is thought to have the mental capacity of an 18-month-old child. Do you know what condition she has?
  Medscape, October 20, 2021
• My Strangest Case: An Infant With Lumps in Her Belly The parents of a 3.5-month-old girl noticed lumps in her belly while bathing her. This set off an investigation into various rare diseases that could be responsible, with a surprising resolution.
  Medscape, June 10, 2020
• A 25-Year-Old Woman With a Droopy Eyelid and Double Vision A 25-year-old woman with a throbbing headache developed droopiness of the left eyelid and double vision, which is gradually worsening. Can you make the diagnosis?
  Medscape, March 20, 2020
• A 14-Year-Old Boy With Unexplained, Recurring Fever A 14-year-old boy presents with a 2-week history of unrelenting fever and generalized fatigue. What is the most likely diagnosis?
  Medscape, June 17, 2019
• A 56-Year-Old Woman With Paresthesia and Choking A 56-year-old woman has had worsening paresthesias in her arms for several months. She also has noticed that she coughs and chokes while she is eating and drinking. What's the diagnosis?
  Medscape, December 26, 2018
• A Visual Field Defect in a Patient With History of Seizures A 64-year-old woman comes to you after 2 weeks of symptoms. Between visual testing and MRI, can you offer her a diagnosis?
  Medscape Ophthalmology, October 09, 2018
• Recurrent Infections in a 5-Year-Old Boy A 5-year-old child is presented for an ear infection. He was previously treated for recurrent bacterial pneumonia and twice required inpatient hospitalization. What underlying condition is at work?
  Medscape, July 30, 2018
• Neurocognitive Decline and Motor Regression in a 34-Year-Old Woman A 34-year-old woman has a 4-year history of psychotic behavior and neurocognitive decline. She has also demonstrated progressive motor regression and loss of speech. What's the diagnosis?
  Medscape, April 23, 2018
• Headache in a 19-Year-Old Woman With a Genetic Disorder A young woman presents to the clinic after a hospital visit for a 5-year history of progressively frequent headaches. She has a headache daily, with 1 severe headache per week. What is the diagnosis?
  Medscape, October 26, 2017
• Presidential Health: Secrets, Surprises, and Controversies How much do you know about the history of presidential health?
  Medscape Family Medicine, August 14, 2017
• A 49-Year-Old Man With Forgetfulness and Gait Impairment A 49-year-old presents with a history of memory loss and gait impairment. What is the most likely diagnosis?
  Medscape, June 27, 2017
• A 20-Year-Old Woman With Flank Pain and Vomiting A 20-year-old woman presents with a 2-week history of bilateral flank pain and episodic vomiting. She has no history of fever, dysuria, polyuria, hematuria, or urinary urgency. What's the diagnosis?
  Medscape, March 28, 2017
• Painful, Persistent Swelling Restricting Range of Motion in a Child A 10-year-old boy presents with recurrent episodes of painful swelling associated with restricted movement and areas of residual, painless, persistent, nontender bony swelling. What is the diagnosis?
  Medscape, September 28, 2016
• The Case of the Blue/Brown-Eyed Girl A 2-year-old girl presents with unusual pigmentation in one eye and hearing issues. Can you make the correct diagnosis?
  Medscape Ophthalmology, May 24, 2016
• Unilateral Glaucoma? A 44-year-old man presents with blurred vision in one eye that is worse in the morning. What is the cause of his visual complaint?
  Medscape Optometry, February 25, 2016