Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX. A 20-year-old woman was presented in our department for bilateral swelling of the posterior aspect of ankles and the anterior aspect knees with gait disturbances evolving since the age of 7. The patient was the first child of consanguineous marriage. She had bilateral cataracts and developmental delay. Laboratory findings revealed that the plasma cholestanol level was remarkably elevated, and plasma and urine bile alcohol levels were elevated. MRI of ankles showed a bilateral diffuse thickening of the Achilles tendon with hypointense in T1 and heterogeneous hypersignal in T2 with spots in hypersignal in T1 and T2. Brain MRI revealed bilateral and symmetrical T2 hypersignal of dentate nuclei, without white matter signal alterations or cerebral or cerebellar atrophy. A biopsy obtained of the Achilles swelling with a histological study showed an aspect of tendon xanthoma. Hence, the diagnosis of CTX was made. MRI, especially brain MRI, plays an important role in the diagnosis of CTX.

Relationship between vertebral fracture prevalence and abdominal aortic calcification in women with rheumatoid arthritis.

OBJECTIVES: Vertebral fracture assessment (VFA)-detected abdominal aortic calcification (AAC) has been validated as an indicator of increased risk of vertebral fractures (VFs) in other populations but this relationship in rheumatoid arthritis (RA) is unclear. We assess the prevalence of AAC on VFA scans and its potential relationship with prevalent VFs in a cohort of RA women. METHODS: We enrolled 250 women with RA. VFA images, and scans of the lumbar spine and proximal femur were obtained using dual-energy x-ray absorptiometry. The presence/severity of VFs and AAC were carried out using validated approaches. RESULTS: AAC was detected in 95 of 250 (38%) eligible subjects and 83 (33.2%) had at least one VF. Significantly subjects with VFs had a higher AAC score (3.4 ± 3.8 versus 0.7 ± 1.4; p˂0.001) and higher prevalence of AAC than those without VFs (65% versus 26%; P˂0.001). The group with VFs tended to be older, had more menopausal women, and lower lumbar spine and total hip BMD than those without VF. They also had a long-standing disease and high DAS 28-CRP, a great steroid cumulative dose, and a high prevalence of rheumatoid factor (RF). In multivariate analyses, a significant association was noted between prevalent VFs and age of patients, RA disease activity, presence of densitometric osteoporosis, RF, and VFA-detected AAC, whereas there was no significant association with steroid cumulative dose and disease duration. CONCLUSION: VFA is a convenient tool for the diagnosis of VFs and AAC. In this cohort, VFA-detected AAC was independently associated with prevalent VFs.