Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia
2010
Homocystinuria: A Case of Stroke and Anemia in a Child
Sample size: 1
publication
Evidence: low
Author Information
Author(s): Parveen Bhardwaj, Ravi Sharma, Minoo Sharma
Primary Institution: Indira Gandhi Medical College, Shimla, Himachal Pradesh, India
Hypothesis
Can homocystinuria present as stroke and megaloblastic anemia in a child?
Conclusion
The child diagnosed with homocystinuria type-I responded well to treatment and showed significant improvement.
Supporting Evidence
- The child presented with weakness of the right half of the body and was diagnosed with homocystinuria type-I.
- MRI showed hyperintensities in the brain, indicating a stroke.
- The child responded to treatment with pyridoxine and folic acid.
Takeaway
A 4-year-old girl had a stroke and anemia because of a rare condition called homocystinuria, but she got better with the right medicine.
Methodology
The case report details the clinical presentation, diagnosis, and treatment of a child with homocystinuria.
Participant Demographics
4-year-old female child
Digital Object Identifier (DOI)
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