Atypical Cystic Fibrosis Case with Night Blindness
Author Information
Author(s): Joshi Deepak, Dhawan Anil, Baker Alistair J, Heneghan Michael A
Primary Institution: Institute of Liver Studies, Kings College Hospital
Hypothesis
Can cystic fibrosis present with atypical symptoms such as night blindness in adolescents?
Conclusion
This case highlights the first reported instance of cystic fibrosis-related liver disease in a teenage boy, presenting with night blindness due to vitamin A deficiency.
Supporting Evidence
- The patient presented with tiredness and night blindness over 6 months.
- Clinical examination revealed clubbing of hands and feet, and gynaecomastia.
- Liver biopsy showed fatty and fibrotic liver tissue consistent with CF-related liver disease.
- Sweat tests were positive for cystic fibrosis.
Takeaway
A 14-year-old boy had trouble seeing at night because of a vitamin A deficiency caused by cystic fibrosis, which is usually known for other symptoms.
Methodology
Case report detailing clinical presentation, examinations, and laboratory tests.
Limitations
The study is based on a single case report, limiting generalizability.
Participant Demographics
14-year-old Caucasian male.
Digital Object Identifier (DOI)
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