Image IQ: 13-Year-Old Complains of Abdominal Pain, Red Dots, and Overheating

June 30, 2020

How good are your diagnostic skills?  Test them here with this month's Visual Dx quiz!

A 13-year-old boy went to the pediatrician with his parents to discuss a number of symptoms, some of which he had experienced for years. He had regular bouts of abdominal pain and abdominal cramping, which were sometimes accompanied by diarrhea. He loved sports but found it hard to participate in them because he could not tolerate becoming too warm – he didn’t seem to sweat normally. However, he also couldn’t stand being cold either, often wearing more layers than his sisters. He also complained of burning pain in his hands and feet. He insisted it was more than just feeling like they had fallen asleep. Finally, most recently, he had noticed a bunch of small red dots – which the doctor identified as hyperpigmented macules and smooth papules – appear on his thighs. The family felt there must be an explanation for all of these symptoms, even if they were not related.

A. Irritable bowel syndrome

B. Fabry disease

C. Celiac disease

D. Sarcoidosis

Can you diagnose the patient? Use the Differential Builder in VisualDx to help you.

Scroll down for the answer.

Learn more about this diagnosis on the VisualDx site.

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The correct answer is B. Fabry disease