Hereditary hypophosphatemic rickets with hypercalciuria.
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Biomedical subjects
Publications and source records attributed to Karima Benbouazza.
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UNLABELLED: Factor VII deficiency (or hypoproconvertinemia) is a rare inherited bleeding disorder that can cause hemarthrosis similar to that seen in hemophilia. We report a case. CASE REPORT: A 28-year-old woman experienced recurrent spontaneous hemarthrosis in both elbows and one knee starting at 2 years of age. She sought advice for an episode of bleeding in the left knee. The prothrombin level was decreased to 15% and the activated partial thromboplastin time was normal. Radiographs disclosed advanced joint destruction in the right shoulder, both elbows, the left knee, and both ankles. She described similar joint symptoms in two cousins. Plasma factor VII was less than 10%. A diagnosis of arthropathy due to an inherited bleeding disorder was given. Triamcinolone hexacetonide was injected into the joint; fresh frozen plasma was given concomitantly as an intravenous infusion. DISCUSSION: Factor VII deficiency is an extremely uncommon bleeding disorder with an estimated prevalence of 1/300,000 to 1/500,000. Bleeding occurs only in homozygotes whose factor VII level is less than 20%. Hemarthrosis is less common than hemophilia, although the characteristics of joint destruction are similar in the two conditions.
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UNLABELLED: Chronic osteomyelitis of the hand is uncommon and affects the metacarpals in only 3% of cases. We report a case of chronic osteomyelitis involving two metacarpals, and we present a review of the relevant literature. CASE-REPORT: A 41-year-old man with a 5-year history of psoriatic arthritis was admitted for a swelling over the dorsum of the left hand. At admission, he was in good general health and had no fever. In addition to the swelling, he had synovitis of the right ankle and psoriasis over the hands and elbows. The spine and sacroiliac joints were normal to physical examination. The erythrocyte sedimentation rate was 110 mm/h, the C-reactive protein level was 48 mg/l, and the leukocyte count was 9600/mm3. A radiograph of the hands disclosed a bone-within-bone image in the second and third metacarpals of the left hand and arthritis of the left carpal joints. A fluid collection over the dorsum of the left hand was visualized by ultrasonography. Aspiration recovered serous fluid that contained no organisms by microscopic examination or culture. Investigations for tuberculosis and a serological test for HIV infection were negative. Computed tomography showed a florid periosteal reaction encasing the diaphyses of the second and third metacarpals and enclosing bony sequestra; abnormal carpal bone architecture and thickening of the soft tissues related to joint effusions were seen also. The diagnosis was chronic osteomyelitis of the metacarpals. Two antimicrobials active against staphylococci were given and the bony sequestra were removed surgically. Histological examination of the operative specimens showed nonspecific osteitis. After 3 months of treatment, the outcome was favorable. CONCLUSION: Chronic osteomyelitis of the metacarpals is exceedingly rare but results in severe functional incapacitation and major social and economic burdens. Our case illustrates an unusual pattern with involvement of two metacarpals in the same hand. An early diagnosis followed by prompt treatment increases the likelihood of a favorable outcome.
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UNLABELLED: IgD myeloma, which is particularly severe, accounts for only 1-3% of all myeloma cases, and the kappa subtype contributes only 10-30% of IgD myelomas. We report a new case. CASE-REPORT: A 59-year-old man was admitted for inflammatory low back pain with L5 sciatica and diffuse bone pain. The symptoms had been present for 3 months, during which he had experienced a severe decline in general health. Laboratory test abnormalities included an erythrocyte sedimentation rate of 70 mm/h, normochromic normocytic aplastic anemia, hypercalcemia (3.5 mmol/l), and serum creatinine elevation to 583 micromol/l. Tests were negative for cryoglobulinemia. Serum protein electrophoresis showed hypergammaglobulinemia but no monoclonal peak. Immunoelectrophoresis, however, detected a faint IgD kappa band in the blood and a homogeneous kappa band in the urine. Bone marrow aspirated from the sternum was found to contain 30% of malignant plasma cells. Biopsies for amyloidosis were negative. Radiographs disclosed multiple punched-out lesions with no evidence of spinal cord compression. Symptomatic treatment was given to correct the hypercalcemia, and combination chemotherapy was started. DISCUSSION: IgD kappa myeloma is a severe variant of myeloma often associated with extraosseous lesions, renal failure, and amyloidosis. The monoclonal component is absent or faint by serum protein electrophoresis, making the diagnosis difficult. The pathogenesis is unclear and the prognosis grim.
INTRODUCTION: Primary hypoparathyroidism and adhesive capsulitis of the shoulder in the same patient does not seem to have been reported previously. We report two cases in first-degree relatives. PATIENTS: Case 1: In 1999, a 41-year-old woman experienced seizures simulating epilepsy. She had been treated 5 years earlier for idiopathic adhesive capsulitis of both shoulders. Computed tomography of the brain showed calcifications in the basal ganglia meeting criteria for Fahr's disease, and incipient bilateral cataract was found. A diagnosis of idiopathic primary hypoparathyroidism was given. After 1 month of calcium and vitamin D supplementation, improvements were noted in the clinical symptoms, laboratory test, and electroencephalogram. Case 2: The 70-year-old father of case 1, who had an unremarkable medical history, had been receiving treatment for about 2 years for adhesive capsulitis of the left shoulder. Routine laboratory tests disclosed idiopathic primary hypoparathyroidism. The outcome was favorable with calcium and vitamin D supplementation. CONCLUSION: Our cases suggest that there may be a common immunological or genetic basis for primary hypoparathyroidism and adhesive capsulitis. Alternatively, adhesive capsulitis may be a manifestation of hypoparathyroidism. Although genetic factors involved in primary hypoparathyroidism have been elucidated, the pathophysiology of the disease remains unclear. Finally, a chance association remains possible.
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Acroosteolysis is characterized by bone resorption in the fingers and toes and can occur in several diseases. Phalangeal acroosteolysis is a rare idiopathic form. We report a case in a 13-year-old girl with a 2-year history of swelling and skin ulcers of the second and third left fingers and second right finger. The fingers were abnormally short and the nails were hypertrophic. Roentgenograms disclosed terminal phalangeal resorption in the fingers and toes. Findings were normal from tests for inflammation and dysimmunity. Biopsies of the skin lesions showed fibrosis without inflammation. Neurological evaluation and electromyographic study were normal. Serological tests for syphilis were negative. Calcium and phosphate levels in blood and urine were normal. A diagnosis of idiopathic phalangeal acroosteolysis (Joseph and Shinz disease) was given. This inherited form of acroosteolysis is transmitted on an autosomal dominant or recessive basis. It affects the tips of the distal phalanges of the fingers and toes but occasionally spreads to other bones.
OBJECTIVE: To evaluate the smallest detectable difference (SDD) of symptomatic outcome or process variables in ankylosing spondylitis (AS) patients from various countries. METHODS: Thirty consecutive AS patients with axial involvement were recruited from 1 center in each of 4 countries (Spain, Morocco, France, The Netherlands), for a total of 120 patients. Fourteen variables were studied in 6 domains: pain (3 variables), stiffness (1 variable), function (2 variables), spinal mobility (3 variables), patient global assessment (4 variables), and the domain of enthesiopathy (1 variable). All patients were evaluated twice within a 1-week period during which no clinical or therapeutic change occurred. Intracenter reliability was evaluated using the intraclass correlation coefficient (ICC). The SDD was determined using the Bland-Altman method. RESULTS: Of the 14 variables evaluated in the 120 patients (82% males, 42 +/- 12 years old, with a mean disease duration of 17 +/- 13 years), only the SDD for the variable occiput-to-wall distance showed statistically significant difference among centers. For the entire group, the SDD, expressed as percentage of the range of the variable, varied from 10% (Mander enthesis index) to 39% (spinal pain at night last week). The intraobserver reliability was good (ICC > 0.80) except for the variables morning stiffness and modified Schober test (ICCs of 0.76 and 0.60, respectively). CONCLUSION: This study suggests that the evaluation of AS patients is homogenous and reliable in different centers of different European and North African countries. Evaluation of the SDD of the symptomatic outcome or process variables is a starting point to determine the minimum clinically important difference, permitting the presentation of results of clinical studies on an individual basis.
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Hip dislocation is an uncommon presentation of hip tuberculosis. We report a case in an 18-year-old woman with active hip tuberculosis. An attempt to reduce the dislocation 7 weeks into antituberculous therapy was followed by necrosis of the femoral head. Although severe forms of hip tuberculosis are common in endemic areas, dislocation is exceedingly rare. Capsule laxity and/or synovial hypertrophy probably contribute more to the occurrence of dislocation than does the accumulation of pus.