| Three siblings with idiopathic hemochromatosis are presented. They are remarkable because of the particularly benign disease and absence of typical HLA phenotype in the index case. In only one of the patients is the glucose tolerance disturbed. This case also has an HLA A3 phenotype. A typical hemochromatosis arthropathy is described in two patients. Following venesection a subjective improvement of the arthritis was reported by one patient. ( info) |
| Two patients are described with calcium pyrophosphate crystal deposition and hypomagnesemia. There appears to be a meaningful association between the two findings, although the precise mechanism explaining this association is not clear. The identification of chondrocalcinosis on radiographs may be an important clue to the presence of hypomagnesemia. ( info) |
123/186. Synovial calcifications associated with long-term steroid therapy for chronic arthritis. Radiologically detected synovial densities may be related to one of several distinct causes. The associated articular appearance may give a clue to the diagnosis. We have described the stippled appearance of innumerable distinct densities in the knees of two patients who had progressive destructive changes associated with long-term steroid therapy. We suggest that prolonged steroid therapy be added to the list of processes associated with diffuse small synovial calcifications. ( info) |
| Familial brachydactyly has been recognized for many years but no published accounts report associated chondrocalcinosis. We recently evaluated such a patient and report the occurrence of brachydactyly in 4 generations of his kindred. The pattern of brachydactyly in this pedigree suggest autosomal dominant inheritance that is the mode of inheritance in most kindreds. The prepositus with chondrocalcinosis has longstanding arthralgias of both knees as does at least one other close relative who also has brachydactyly. The possibility that chondrocalcinosis may be part of the syndrome is suggested but awaits further clarification. ( info) |
125/186. Aspiration of the retrocalcaneal bursa. We aspirated the retrocalcaneal bursa in cadavers to determine the characteristics of bursal fluid. A small amount of clear, viscous fluid was constantly present in the bursa. Leucocyte count was low, and the mucin clot test was good. With the same technique we aspirated the retrocalcaneal bursae of 4 patients. Three had Reiter's syndrome; the bursal fluid was inflammatory, and symptoms promptly resolved after local corticosteroid injection. The fourth patient presented with heel pain; intracellular, positively birefringent crystals were present in the aspirate, consistent with the diagnosis of pseudogout. ( info) |
| A middle aged male developed recurrent episodic inflammatory effusions of the right knee associated with radiographic findings consistent with osteochondromatosis. calcium pyrophosphate dihydrate (CPPD) crystals were identified by polarized light and electron microscopy, although chondrocalcinosis was not demonstrated radiographically in this joint or any other locations. Analysis of noninflammatory fluid from the left knee demonstrated apatite crystals. The unique association of CPPD crystals and synovial osteochondromatosis without evidence of chondrocalcinosis and the relationship of these 2 entities is discussed. ( info) |
127/186. Multiple microcrystal deposition disease in a patient with systemic lupus erythematosus. A 17-year-old female patient with systemic lupus erythematosus (SLE) developed chronic tophaceous gout, chondrocalcinosis and articular capsule calcification in several joints. Analysis of synovial fluid and tophi revealed the coexistence of monosodium urate, calcium pyrophosphate, hydroxyapatite, and cholesterol crystals. ( info) |
128/186. Pseudogout masking other arthritides. Of 314 patients with proved pseudogout, 9 had a separate serious disease in the same joint: 5 had septic arthritis, 2 rheumatoid arthritis, 1 psoriatic arthritis, and 1 hypertrophic pulmonary osteoarthropathy. In every instance but one, the episode of crystal synovitis appeared to be provoked by the new inflammatory process, disturbing previously asymptomatic chondrocalcinosis. Pseudogout attacks, although generally idiopathic solo events, can mask septic and chronic inflammatory arthritis. ( info) |
129/186. Staphylococcal septic arthritis presenting as acute flare of pseudogout: clinical, pathological and arthroscopic findings with a review of the literature. A patient with primary hyperparathyroidism and known pseudogout presented with an acute flare of the right knee. Gram stain was negative, and many intracellular calcium pyrophosphate dihydrate (CPPD) crystals were seen by both compensated polarized light and transmission electron microscopy. Cultures grew staphylococcus aureus; the joint was probably seeded by an antecedent skin infection, with enzymatic "strip mining" precipitating acute pseudogout. The patient was refractory to therapy with oxacillin, naproxen, intravenous colchicine, and closed drainage. Arthroscopic debridement with insertion of drainage tubes led to rapid improvement, and offers an alternative to arthrotomy in septic knee arthritis unresponsive to closed drainage. ( info) |
| Three sisters, each with chondrocalcinosis/arthropathy, are described who have the clinical, laboratory and pathologic findings characteristic of the adult form of hypophosphatasia. Premature loss of adult teeth, arthralgias and pain from bilateral femoral pseudo-fractures were associated with subnormal circulating alkaline phosphatase levels, phosphoethanolaminuria and osteomalacia diagnosed by iliac crest biopsy. Assay of alkaline phosphatase activity in the blood of kindred members revealed hypophosphatasemia in one of two younger brothers. Several subjects in subsequent generations also had suspiciously low alkaline phosphatase activity, but did not have histories of significant dental, bone or joint disease. review of the medical records of the sisters' parents, aunts and uncles revealed normal alkaline phosphatase levels in their father and five of his siblings, but consistently low levels in their mother and two of her siblings. Despite hypophosphatasemia, the sisters' mother and her siblings lived to old age without clinical or radiographic evidence of bone disease. Our findings suggest that although adult hypophosphatasia can be transmitted as a dominant trait in some kindreds, there is considerable variation in the clinical expression of the biochemical defect. One person, generation or family may manifest clinical bone disease and arthropathy whereas the biochemical defect may be present but remain asymptomatic in others. Furthermore, in some cases, the adult form of hypophosphatasia may represent a developmental disorder with hypophosphatasemia appearing during adulthood. ( info) |