3ilod
2.7K posts
A 2 year old in the US was diagnosed with a disease from the 1700s He was brought to the ER because he stopped walking. No trauma. No fall. He just slowly stopped bearing weight on his legs over 6 weeks until he was crawling instead of walking. His gums were swollen and bleeding. He had a rash. Pinpoint bleeding under his skin. Pain in both legs. Decreased muscle tone. He kept his legs in a frog leg position and screamed when anyone touched them. The doctors suspected everything. First visit: possible fracture. Orthopedics recommended repeat imaging. Four weeks later he was worse. Second visit: concern for leukemia. Then concern for nonaccidental trauma. Child protective services was called. Then the workup began > CT scan of both legs. No fracture. > MRI of head and spine. Normal. > lumbar puncture to rule out Guillain Barre. Normal. > inflammatory markers. Normal. > muscle enzymes. Normal. > heavy metal screening. Negative. > vitamin D and B12. Normal. > bone marrow biopsy to rule out cancer. Normal. > electromyography. Normal. > muscle biopsy. Normal. Weeks of testing. Multiple hospital transfers. Invasive procedures on a toddler. His parents watched their child get poked and scanned and biopsied while nobody could tell them what was wrong. Then someone asked the right question. What does he eat? Chocolate milk and graham crackers. That was his entire diet. His mother had mentioned he was a picky eater at the very first visit. Nobody followed up on it. His vitamin C level came back at less than 0.1 mg per deciliter. He had scurvy. The same disease that wiped out entire ship crews during the Age of Exploration. The same disease the British Navy solved in 1795 by issuing lemon juice to sailors. Scurvy impairs collagen production and compromises blood vessel integrity. That explains the bleeding gums. The rash. The periosteal elevation on MRI. The bone pain. The inability to walk. Every single symptom pointed to one thing and it took months to get there. He was started on vitamin C supplements. Within a week he was moving his legs again. At 4 months he was walking and his hemoglobin was normal. The entire workup could have been avoided with one detailed dietary history at the first visit. We have MRIs and bone marrow biopsies and genetic panels. But the most powerful diagnostic tool in medicine is still asking a parent what their child eats for dinner. All that extensive workup could’ve been replaced by a 5 minute conversation about food.
