Musculoskeletal manifestations of Fabry disease: A retrospective study.

OBJECTIVES: Fabry disease is a rare X-linked metabolic disorder characterized by a deficiency in the enzyme alpha-galactosidase A. Both males and females can be affected. The main presenting symptom is pain in the extremities, whereas at a more advanced stage, the manifestations include hypertrophic cardiomyopathy, cardiac dysrhythmia, proteinuria, chronic kidney dysfunction, stroke, and hearing loss. When not diagnosed and treated, Fabry disease causes early death. No studies specifically designed to describe the musculoskeletal manifestations of Fabry disease are available. METHODS: We conducted a single-center retrospective study of patients receiving follow-up at a Fabry disease referral center. We described the musculoskeletal manifestations and analyzed the differential diagnoses. RESULTS: Our study included 40 patients belonging to 20 families, including 25 females with a mean age of 44.2 years (range, 20-76 years) and 15 males with a mean age of 40.1 years (range, 16-61 years). Mean age at the diagnosis of Fabry disease was 37.2 years (range, 7-71 years) in the females and 26.9 years (range, 9-51 years) in the males. Specific enzyme replacement therapy was given to 10 (40%) females and 12 (80%) males. Musculoskeletal manifestations were as follows: past or present pain in the extremities (13 females and 10 males), combined in some patients with vasomotor disorders in the extremities and telangiectasia; exercise intolerance (12 females and 12 males); osteoporotic fractures (2 brothers aged 45 and 44 years, respectively); osteoporosis (3 females, aged 57, 63, and 75 years, respectively), which contributed to death in the oldest patient; osteopenia (2 females aged 38 and 47 years, respectively; and 1 male aged 43 years); Charcot foot and lymphedema with serious infectious complications (4 males older than 40 years), with avascular osteonecrosis of the lower limbs in 2 cases; toe amputations (3 cases); bilateral lower-limb amputation (1 case); abnormally slender lower limbs (5 females and 8 males); acute gout (3 males with severe chronic kidney failure); and carpal tunnel syndrome (1 female and 1 male, both younger than 40 years). Mistaken diagnoses that were made at an early stage, contributing to delay the identification of Fabry disease, included rheumatic fever (2 females and 2 males), growing pains (2 males), pain with paralysis (1 female), chilblains of the lower limbs (1 female), and erythermalgia (1 female). In adulthood, the following mistaken diagnoses were made: Sjögren's syndrome and/or sicca syndrome (6 females), systemic sclerosis (1 male), dysautonomia (1 female), and familial Mediterranean fever (1 female). CONCLUSION: The diagnosis of Fabry disease is usually delayed, due to confusion with more common disorders. Musculoskeletal manifestations may constitute the presenting symptoms. Past or present pain in the extremities is typical. Osteoporosis may develop early and become severe. Together with the family history, the presence of musculoskeletal manifestations can lead to the correct diagnosis by prompting alpha-galactosidase assays in males and genetic testing in females. Fabry disease is often responsible for musculoskeletal manifestations, of which the most common are pain in the extremities and osteoporosis. These manifestations can be inaugural and lead to diagnostic wanderings. They require specific treatment strategies.

Staphylococcus aureus osteitis of the dens: a rare location.

An immunocompetent 84-year-old woman was admitted for severe neck pain with a fever. Magnetic resonance imaging showed osteitis of the dens. She had methicillin-susceptible Staphylococcus aureus bacteremia related to a dental extraction. She then developed an infection of a hip prosthesis due to the same organism. Her treatment consisted in intravenous antibiotics followed by oral suppressive antibiotic therapy for 2 years. Exchange arthroplasty was not performed given the advanced age of the patient, her unwillingness to undergo the procedure, and the risk of neurological complications during endotracheal intubation. The outcome was favorable at last follow-up more than 2 years after antibiotic treatment initiation.

Osteomyelitis in adults: an underrecognized clinical entity in immunocompetent hosts. A report of six cases.

OBJECTIVE: Osteomyelitis is rare in adults and typically occurs in patients with risk factors such as sickle cell disease or immune deficiency. Cases in immunocompetent adults without sickle cell disease are extremely rare. The objective of this work was to describe the epidemiological, clinical, laboratory, and radiological features and the management of long-bone osteomyelitis in immunocompetent adults without sickle cell disease. METHODS: We conducted a retrospective descriptive study of all immunocompetent adults without sickle cell disease who were admitted to our center between November 2002 and November 2008 for long-bone osteomyelitis. In all patients, the clinical symptoms started in adulthood, in the absence of a childhood history of osteomyelitis. RESULTS: We identified six patients meeting our inclusion criteria over the 6-year study period. The causative microorganism was methicillin-susceptible Staphylococcus aureus in four patients and Salmonella in two patients (wild-type S. typhi and S. enterica, respectively). In each patient, there was a single focus of osteomyelitis and a single causative microorganism. The symptoms developed insidiously and lacked specificity. At presentation, the patients had moderate pain with or without a swelling. There was no fever initially in five patients, three of whom had major diagnostic delays as a result. Treatment associated antibiotics and surgery in all patients and the initial outcome was consistently favorable (median follow-up: 15 months; range: 8-72). CONCLUSION: Osteomyelitis can occur even in immunocompetent adults. The protracted course and atypical presentation of osteomyelitis in immunocompetent adults may lead to major diagnostic delays.

Polybacterial pyomyositis following laparoscopic colectomy for complicated diverticulosis.

We report a case of diffuse subacute muscle infection caused by enteric bacteria, diagnosed two months after laparoscopic colectomy for a sigmoid abscess and successfully treated with antibiotics alone.

Contribution of helical computed tomography to the evaluation of early hip osteoarthritis: a study in 18 patients.

OBJECTIVES: To show that helical computed tomography arthrograms (HCTA) with multiplanar reformations can document cartilage lesions and their characteristics in patients with suspected hip osteoarthritis and normal or inconclusive hip radiographs. METHODS: We retrospectively reviewed abnormal HCTAs from patients with mechanical hip pain and normal findings on anteroposterior and oblique ("faux profil") radiographs of the pelvis. HCTA in all patients consisted in acquiring 1 mm transverse slices and obtaining coronal and sagittal reformations. Radiographs and HCTAs were read separately by two experienced radiologists, who then worked together to reach a consensus. RESULTS: We identified 18 patients with abnormal HCTA findings and a full set of imaging studies. Mean age was 47.8 years, and there were 14 women and four men. Acetabular cartilage lesions were found consistently; they were often deep and predominated in the anterosuperior region. A labral fissure was noted in 12 patients. The sagittal and coronal reformations proved more informative than the acquired transverse slices. Interobserver reproducibility was excellent for the HCTA diagnosis of cartilage lesions. CONCLUSIONS: In patients with hip pain and normal radiographs, HCTA can provide a diagnosis of hip osteoarthritis by showing cartilage lesions, which are usually located in the anterosuperior part of the acetabulum.

Contribution of routine joint aspiration to the diagnosis of infection before hip revision surgery.

OBJECTIVES: To define the sensitivity and specificity of routine preoperative hip aspiration for diagnosing hip prosthesis infection (HPI) and to separately analyze subgroups with and without a clinical suspicion of HPI before aspiration. METHODS: From June 1994 to June 1997, all patients scheduled for hip revision surgery underwent aspiration of the hip under image intensifier guidance. Microbiological results were compared between these preoperative specimens and the intraoperative specimens. The reason for surgery was either a clinical suspicion of HPI or pain suggesting loosening. RESULTS: The study patients had had multiple surgical procedures. HPI was suspected clinically in 39.4% of cases. Of the 109 patients who underwent aspiration, 54 had true-negative results, nine had false-negative results, and 44 had true-positive results (there were no false-positive results), yielding a sensitivity of 83% and a specificity of 100%. Diagnostic efficiency was 91.6%, positive predictive value was 100%, and negative predictive value was 85.7%. In the subset of 43 patients with a clinical suspicion of HPI, aspiration identified all the causative organisms in 60.5% of cases. Of the 66 patients with no clinical suspicion of HPI, 12 had HPI, and aspiration provided the diagnosis preoperatively in seven of these patients, radically changing their management plans. Restricting routine aspiration to patients whose prosthesis had been implanted within the last 5 years or whose erythrocyte sedimentation rate (ESR) was above 30 mm/h would not have modified our findings. CONCLUSIONS: Hip aspiration before revision surgery for pain is effective in detecting HPI, which can simulate aseptic loosening. However, this investigation may be noncontributive in patients who have had their prosthesis for more than 5 years and whose ESR is less than 30 mm/h.

Lumbar Chymopapain Chemonucleolysis.

Lumbar chemonucleolysis is an alternative treatment of the sciatic pain due to a disc herniation. It gives good results in 70 to 80% of selected patients. When a correct technique is used, the complication rate is lesser than that of the open surgery. The indications of lumbar chemonucleolysis are larger than in the past and include lateral disc herniations, large or migrated disc herniations, and patients under 18 years or over 60 years. Further studies are necessary to determine if magnetic resonance imaging helps in patients selection and improve the success rate of chemonucleolysis.