A 17-year-old boy, DA, presented to the emergency room with progressive deterioration in hearing, sight, and vitality. He had been eating only potato chips and French fries for 10 years, leading to a severe vitamin B12 deficiency. Despite having normal vitamin B12 levels in his blood, his body was unable to absorb the vitamin due to a lack of intrinsic factor in his stomach. This deficiency caused macrocytic anemia, optic neuropathy, and hearing loss, ultimately leading to DA becoming legally blind. The case highlights the importance of a varied diet and the potential consequences of nutritional deficiencies, even in developed countries. DA's vision loss was not reversible, but his rate of vision loss stabilized after restarting vitamin B12 injections and receiving counseling on his eating habits.
Here are the key facts extracted from the text:
1. DA, a 17-year-old boy, presented to the emergency room with progressive deterioration in hearing, sight, and vitality.
2. DA had been experiencing a decline in his field of vision and a ringing in his ears.
3. DA's diet consisted mainly of French fries, potato chips, and white bread.
4. A blood test at the age of 14 revealed that DA had macrocytic anemia.
5. DA had a marked vitamin B12 deficiency.
6. Vitamin B12 is essential for the production of red blood cells and the maintenance of the nervous system.
7. DA's vitamin B12 levels were low, despite his body not producing any symptoms of deficiency.
8. DA was given vitamin injections to boost his levels.
9. DA's vision worsened over time, and he became legally blind.
10. A test for Leber hereditary optic neuropathy was negative.
11. DA's liver, thyroid, and vitamin B12 levels were normal, but his homocysteine and serum methylmalonic acid levels were high.
12. DA's body was functionally deficient in vitamin B12, despite his normal B12 levels.
13. Vitamin B12 is essential for the production of ATP, the energy source for cells.
14. DA's diet lacked variety, and he did not consume foods rich in vitamin B12.
15. DA's bodyweight was within average for his height, and he did not appear malnourished.
16. Optic neuropathy, a condition that affects the nerves in the eyes, is a possible cause of DA's blindness.
17. Vitamin B12 deficiency can cause anemia, neurodegeneration, and impaired nerve conduction.
18. DA's condition could have been prevented if he had been diagnosed with a vitamin B12 deficiency earlier.
19. DA's treatment included vitamin B12 injections and counseling for his eating habits.
20. DA's rate of vision loss stabilized, but his optic neuropathy and associated hearing loss were not reversed.