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Concurrent Phenylketonuria and Pyogenic Sacroiliitis: A Case Report Highlighting Rare Co-Occurrence
Sinem Kübra Beke1, Hüseyin Kaplan1, Marise Öney1
1Division of Rheumatology, Department of Physical Medicine and Rehabilitation, Erciyes University School of Medicine, Kayseri, Turkey.
Abstract:
A 19-year-old male patient with phenylketonuria (PKU) was presented to our clinic with complaints of left hip pain and fever for one week. Physical examination and MRI examination showed findings compatible with pyogenic sacroiliitis and an abscess in the left iliopsoas muscle. The patient's clinical and radiological findings improved markedly with empirical antibiotic treatment. Although immune system disorders associated with PKU have been reported previously, to our knowledge, a direct link between PKU and rheumatological diseases has not yet been demonstrated. This case suggests that further research is needed to understand the potential effects of PKU on the immune system and susceptibility to infections.
Insights
This case highlights a rare instance of pyogenic sacroiliitis and iliopsoas abscess in a phenylketonuria (PKU) patient, suggesting a potential link between PKU and infection susceptibility.
Area of Science:
- Immunology
- Infectious Diseases
- Genetics
Background:
- Phenylketonuria (PKU) is a rare genetic disorder affecting amino acid metabolism.
- While immune dysregulation is known in PKU, its direct association with specific rheumatological conditions remains unclear.
- Infections can present atypically in patients with metabolic disorders.
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