[Hip arthroplasty in genetic hemochromatosis. Report of 5 cases]. / L'atteinte coxofémorale dans l'hémochromatose génétique. A propos de cinq observations.

INTRODUCTION: Half of the patients with genetic hemochromatosis will have arthritis. Two of these articular involvements are well-known: the arthropathy involving the phalangeal and the metacarpophalangeal joints of the hand, useful for diagnosis, and hip arthropathy. Iron deposits seem to be involved in articular cartilage destruction. EXEGESIS: We report five cases of patients with hemochromatosis hip involvement. Hip arthropathy revealed hemochromatosis in one case and appeared despite efficient phlebotomies in another case. Three of these patients required hip arthroplasty. CONCLUSION: Hip arthropathy remains a frequent but unknown event in genetic hemochromatosis (12.5%) and it involves the functional prognosis.

Acute sacroiliitis as a manifestation of calcium pyrophosphate dihydrate crystal deposition disease.

While radiographic lesions of the sacroiliac joint (SIJ) are common in patients with calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, they are rarely accompanied by clinical symptoms. We report the case of a 69-year-old woman who presented with an acute sacoiliitis and a linear calcification in the right SIJ on CT scan. The patient recovered well after intra-articular steroid injections.

[Sacro-iliac involvement in he course of Paget disease. Report of 6 cases]. / L'atteinte sacro-iliaque au cours de la maladie de Paget. 6 observations.

OBJECTIVES: Determine the characteristic features of sacroiliac lesions observed in patients with Paget's disease. PATIENTS AND METHODS: A retrospective analysis of the hospital files of 87 patients cared for over a period of 12 years was performed. Six patients, 4 women and 2 men, mean age 79 years, were retained for study. In 4 patients one or both sacroiliac joints were involved with complete fusion of the sacral and iliac bones, confirmed by CT-scan in 3. In the 2 other patients, only one border was involved. Scintigraphy showed polyostotic Paget's disease in 3 cases with pelvic localization in the 3 others. Ankylosing spondylarthritis (B27+) was associated in 1 case and in 2 joint chondrocalcinosis without a calcium rim was visualized at the sacroiliac joint. Sacroiliac fusion was related either to new bone forming a bridge in front of the articular space or destruction of the joint cartilage with pagetic fusion. CONCLUSION: Sacroiliac involvement in Paget's disease leads to joint fusion by cartilaginous destruction and should suggest possible ankylosing spondylarthritis, ankylosing vertebral hyperostosis, or joint chondrocalcinosis.

[A new type of iliac fracture caused by bone insufficiency]. / Un nouveau type de fracture iliaque par insuffisance osseuse.

BACKGROUND: The iliac bone is an uncommon localization for bone insufficiency fractures. We report a new type. CASE REPORT: A 51-year-old woman with post-menopause osteoporosis was seen for a fracture of the ischio-pubic branch of the iliac bone. X-ray also revealed an unknown fracture situated above the anterior superior iliac spine continuing cranially and medially towards the iliac crest. DISCUSSION: Three types of iliac fractures due to bone deficiency have been described. Type 1, (oblique iliac), the fracture is oblique beginning in the greater sciatic notch and extending a more or less into the iliac wing. Type 2 (superior medial iliac) involves the most medial part of the iliac wing, approximately parallel to the sacroiliac joint. In type 3 (supra-acetabular), the fracture is in a supra-acetabular localization. Our case suggests a fourth type should be individualized.

Cystic rheumatoid arthritis with Felty's syndrome and ankylosing spondylitis.

A 63-year-old man with strictly axial ankylosing spondylitis since the age of 28 years had a seven-year history of cystic seronegative rheumatoid arthritis with Felty's syndrome. Cysts were present in the hands, feet, wrists, shoulders, hips, one elbow, and one knee. There was no evidence of juxtaarticular demineralization, joint space loss, erosions, or joint destruction. Rheumatoid pannus was demonstrated within the cysts, particularly at the hip, ruling out cystic hip disease due to ankylosing spondylitis. HLA typing demonstrated the B27 and DR4 haplotypes. HLA B27 may be associated with a worse prognosis of rheumatoid hip involvement.

HLA B27 and respiratory involvement in axial spondylarthropathies. A retrospective study in 107 male patients.

OBJECTIVE: To conduct a retrospective study of respiratory involvement in axial spondylarthropathies according to HLA B27 status. METHOD: Schöber's index, chest expansion and lung function parameters were measured in 107 male inpatients with spondylarthropathies, including 78 with and 29 without the HLA B27 antigen (groups I and II, respectively). Active or severe spondylarthropathy was defined based on widely used clinical and laboratory test parameters. RESULTS: The two groups were similar regarding age, body mass index, disease duration, proportion of smokers and proportion of patients requiring nonsteroidal antiinflammatory drug therapy. Overall, 30 patients had pure active disease, 11 had pure severe disease, 26 had active severe disease and 40 had nonactive nonsevere disease. Group I patients were significantly more likely to have active severe disease than group II patients, whereas the opposite was true for nonactive nonsevere disease. Mean erythrocyte sedimentation rate was higher in group I (22.6 +/- 21.6) than in group II (13.3 +/- 12.5) (P = 0.039). Group I patients had lower values for chest expansion (5.4 +/- 2.2 cm versus 6.37 +/- 1.9 cm; P = 0.045), vital capacity (91.9% +/- 13.9% versus 99.5% +/- 17.6%; P = 0.021), and total capacity (91.8 +/- 12.3 versus 98.1 +/- 13.9; P = 0.025). A restrictive defect was found in 12 group I patients versus one group II patient (nonsignificant difference). All patients with restrictive defects had active and/or severe disease. Two-way analysis of variance and Fisher's PSLD post-test suggested that lung function was influenced by disease severity but not by disease activity. CONCLUSION: Lung function impairment may be more common and more severe in HLA B27-positive than in HLA B27-negative spondylarthropathy patients. This difference may be entirely ascribable to increased disease severity in HLA B27-positive patients.

[Hereditary xanthinuria, rare cause of hypo-uric acidemia. 2 cases]. / La xanthinurie héréditaire, cause rare d'hypo-uricémie. 2 observations.

BACKGROUND: Hypouricemia can be observed in uncommon situations as in our two patients with hereditary xanthinuria. CASE REPORTS: In the first case, hereditary xanthinuria was discovered in a 36-year-old man when routine tests revealed hypouricemia. In the second case, a 76-year-old woman, hypouricemia was also a fortuitous discovery. She had major xanthinuria and a radiotranslucid lithiasis in the right kidney. DISCUSSION: Hereditary xanthinuria is characterized by hypouricemia, low urinary urate excretion and increased concentration of xanthine and to a lesser extent hypoxanthine. The disease results from a defect in xanthine oxidase and is considered to be transmitted by autosomal recessive heredity. This rare metabolic disorder is more often asymptomatic and detected by routine chemistry. Development of xanthine lithiasis is directly related to the low solubility of xanthine and is the main complication of the disease, occurring in 30-40% of patients. There is no effective treatment and the only useful measure is to prevent xanthine urolithiasis by maintaining urinary output above 2 l/day.

Factors linked to disease activity in a French cohort of patients with spondyloarthropathy.

OBJECTIVE: To identify risk factors associated with disease activity, in a group of patients with spondyloarthropathy (SpA) living in France. METHODS: Patients fulfilling the ESSG or Amor criteria for SpA were enrolled in a cross sectional multicenter study. Disease activity was assessed using a French version of the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI). Univariate and multivariate analyses were used to identify a link between BASDAI and disease characteristics, genetic factors, and environmental factors such as infectious events, mental stress, working conditions, and dietary factors. RESULTS: We studied 293 patients. On multivariate analysis, BASDAI appeared to be mainly linked to disease duration (negative correlation), the absence of sacroiliitis, and the "frequency of meals taken out of home" (negative correlation). CONCLUSION: Disease activity in a French population of patients with SpA appeared to be linked mainly to a shorter disease duration and a peripheral pattern of arthritis, as well as to dietary habits. The underlying links between this last environmental factor and disease activity remained hypothetical and could only reflect a nontested social factor.

Evaluation of a French version of the Bath Ankylosing Spondylitis Disease Activity Index in patients with spondyloarthropathy.

OBJECTIVE: To develop a French version of the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and to determine its metric properties in patients with all forms of spondyloarthropathies (SpA). METHODS: A French version of BASDAI was obtained after a translation and back-translation process. Patients fulfilling the European Spondylarthropathy Study Group or Amor criteria for SpA were included. BASDAI of Day 0, Day 1, and, when treatment was changed, Day 8, and other clinical and biological disease activity variables were recorded, along with assessment of disease activity by the physician or the patient. Scalability, reproducibility, sensitivity to change, internal consistency and redundancy, and construct validity of the index were assessed. RESULTS: We studied 293 patients. Good scalability, reproducibility, construct, and internal validity were observed for BASDAI. Sensitivity to change could not be assessed. CONCLUSION: The French version of BASDAI exhibited good metric properties in patients with all forms of SpA, confirming its utility in further clinical research in SpA. However, sensitivity to changes due to drug therapy remains to be assessed.

Cauda equina syndrome with pagetic vertebral fusion. Clinical recovery under calcium-vitamin D supplementation plus clodronate after apparent failure of pamidronate and acquired resistance to etidronate.

A patient with an osteolytic L2-L3 pagetic block and pagetic lesions of L1 and the sacrum seen only as increased radionuclide activity became resistant to etidronate after the fifth course (5 mg/kg/d six months per year) and developed severe cauda equina syndrome (reduction in walking distance to 30 m and sphincter dysfunction) due primarily to vertebral hypertrophy. Five months after a ten-day course of intravenous pamidronate (22.5 mg/d), the clinical symptoms were unchanged, although the alkaline phosphatase level was down 50%. Oral clodronate (1,600 mg/day for six months per year) in combination with calcium and vitamin D supplementation dramatically improved the walking distance and sphincter disorders. Resolution of the neurological manifestations was complete after the second clodronate course. At last follow-up nine months after the fourth clodronate course, there was no evidence of a relapse and the alkaline phosphatase level was normal. The time course of events in this patient does not allow to affirm that pamidronate was ineffective and suggests that calcium and vitamin D supplementation improved mineralization of the pagetic block and enhanced the effect of bisphosphonate therapy.

[Static metatarsalgia]. / Métatarsalgies statiques.

Static metatarsalgia involves pain of non-inflammatory origin in the region of the metatarsal heads. It is caused by a functional disorder or anatomic derangement of the architecture over the ball of the foot, whether congenital or acquired, evident or not. Clinical examination, including of the shoe and of the plantar orthosis, distinguishes five types of anomalies: 1. horizontal malalignment of the metatarsal heads with insufficiency at the first metatarsal-phalangeal joint, dominated by hallux valgus, and involvement of the second metatarsal bone, sometimes favouring Freiberg's disease; 2. vertical malalignment, with a hollow anterior foot, sometimes complicated by Morton's neuroma; 3. a combination of these two anomalies, easily diagnosed but less easily treated; 4. possible enlargement of the first metatarsal-phalangeal joint (hallux rigidus, sesamoid pathology); 5. no patent architectural anomalies, but stress fractures or bone insufficiency fractures of the metatarsals. Only clinical examination can orient complementary strategy and examinations.

[Magnetic resonance imaging in the warm and cold forms of algodystrophy of the foot]. / L'imagerie par résonance magnétique dans les formes chaudes et froides de l'algodystrophie du pied.

PURPOSE: To report magnetic resonance imaging abnormalities in reflex sympathetic dystrophy of the foot. METHODS: Retrospective study of 22 algodystrophies of the foot, in warm phase in 17 cases, in cold phase in 5. RESULTS: Algodystrophy in warm phase: Bone medullary abnormalities were noted in 17 cases (decrease of signal intensity was found in T1 weighted images, increase of signal intensity in T2 weighted images, in T1 and T2 with fat-saturation, in T1 with gadolinium), located at the increased uptake technetium site in 16 cases. T1 and T2 weighted images with fat-saturation and T1 with fat-saturation after injection of gadolinium were pathological in all cases, T1 was normal in 2 cases. Soft tissues abnormalities were noted in 11 cases, joint effusion in 8 cases, synovial hypertrophy enhanced by gadolinium in 2 cases and a subchondral linear area of hypointense signal on T1 and T2 images was not present after gadolinium injection in 1 case. Six fractures were detected. Algodystrophy in cold phase: no bone edema, no synovial hypertrophy, no joint effusion, no soft tissues abnormalities, no fractures are detected. CONCLUSION: The results suggest that the MRI has a considerable value in diagnosis during the warm phase of reflex sympatetic dystrophy of the foot. The normal MRI findings during the cold phase could be important to understand its etiology.