Work

Clinical Images: Stubborn low back pain under the eyes

Year: 2025

Type: article

Abstract: The patient was a man aged 34 years at the start of follow-up. He had no medical history and was a physical education teacher. He presented with recurrent acute low back pain with no change in his general condition. An initial radiologic examination revealed only L5-S1 disc disease without disc radicular impingement (C). Subsequently, the onset of left L5 sciatica with concordant disc overhang prompted injection of hexatrione into the L5-S1 disc. A few months later, contralateral onset of right S1 sciatica with right calf amyotrophy prompted surgery. All laboratory test results were normal, including Lyme serology and vitamin D and parathyroid hormone levels within normal limits. The remaining radiographic studies did not show any calcification that favored possible chondrocalcinosis. Seven years later, the onset of paramedian sacral pain prompted a new radiologic workup (B, D). Finally, the presence of blue-black patches on the sclera (A) led to the diagnosis of ochronosis, and the presence of high levels of homogentisic acid in urine by gas chromatography–mass spectrometry confirmed the diagnosis. Serum tyrosine level was >1,000 μM. The results of the genetic studies had not been revealed. An additional cardiac evaluation revealed mild aortic valve damage with fibrous remodeling and asymptomatic posterior leaflet damage. Treatment was initially symptomatic with analgesics, anti-inflammatories, and tyrosine-free protein supplements. Subsequently, he benefited from the introduction of nitisinone treatment every two days due to induced keratitis, which resulted in a normalisation of urinary homogentisate level and a decrease in the tyrosine level to around 110 μM. The data supporting the findings of this study are available from the corresponding author upon reasonable request. Disclosure form. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Source: ACR Open Rheumatology

DOI: 10.1002/acr2.70090

Authors: William Gil, Martin Soubrier

Institution: Université Clermont Auvergne

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,550