Anaerobic osteomyelitis in patients with Gaucher's disease.

Bone involvement in patients with Gaucher's disease is common, and some of its clinical manifestations may resemble acute osteomyelitis. In addition, many studies have emphasized the high risk of secondary infection when surgical procedures are performed at the site of the involved bone. Nevertheless, these infections have never been well documented in the literature. Presentation of a patient with Gaucher's disease and osteomyelitis due to Prevotella (Bacteroides) melaninogenica provided us the opportunity to review 10 other similar case reports documented in the literature since 1966. This review suggests that acute hematogenic osteomyelitis is an uncommon complication of Gaucher's disease, but it is of interest that in most cases it is due to unusual organisms, particularly anaerobes.     

Pyogenic vertebral osteomyelitis/disc infection.

Spinal osteomyelitis has been known about for centuries. Granulomatous infection was the principal offender in the past, but nowadays, with an increased number of patients at 'risk', the proportion of pyogenic infections has risen. Awareness of this is the essence of early diagnosis. The advent of magnetic resonance imaging has proved a major milestone; with its high sensitivity and specificity, it is an essential part of the diagnostic work-up. The treatment of spinal osteomyelitis follows the same basic principles as for any infection. Once the diagnosis has been established, early conservative treatment is commenced. Debridement, drainage of any abscesses, spinal decompression and stabilization are options in surgical treatment. The successful use of metallic implants to achieve correction and stabilization is probably helped by good perfusion of the vertebral body and accompanying good soft tissue coverage. The eradication of infection is therefore still possible.     

Gaucher's disease

Gaucher's disease (GD) is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The multiorgan and varied presentation of the disease makes it a challenge to diagnose GD early. The advent of enzyme replacement therapy in the early 1990s changed the management, and survival, of patients with GD. In addition to this, development of substrate reduction, pharmacological chaperone, and gene therapies has broadened the horizon for this rare disease. However, in resource-poor countries like ours, optimal management is still a distant dream.     

"Spontaneous" hematoma of the psoas in Gaucher's disease]

The authors report a case of iliac muscle haematoma responsible for inguinal pain in a patient with Gaucher's disease type I. This exceptional cause of pain must now be considered side by side with the classical femoral head osteonecrosis and infectious coxitis. Magnetic resonance imaging appears to be the most sensitive and most specific examination for the aetiological diagnosis of hip pain in Gaucher's disease. In the absence of thrombocytopenia and franck abnormality of coagulation, the spontaneousness of the haematoma is discussed.     

Pyogenic osteomyelitis presenting as an acute sterile arthropathy.

We report two cases of osteomyelitis secondary to staphylococcal septicaemia, presenting with large sterile effusions in adjacent joints. In both cases the clinical features were suggestive of septic arthritis. Multiple joints were involved in each patient. Initial radiographs showed no abnormalities.     

Iliopsoas hematoma in Gaucher's disease

Gaucher's disease is an autosomal recessive inherited disease characterized by oraganomegaly, cytopenia and bone destruction. Clotting disorders and platelet dysfunctions are described. We report the case of a 22-year-old man who presented subacute groin pain due to spontaneous iliopsoas hematoma. Laboratory investigations found moderate thrombocytopenia, normal coagulation factor activities and unspecific platelet function test disturbances. His spleen was moderately enlarged and no significant bone lesions were found. Iliopsoas hematoma is a rare complication in Gaucher's disease and should be included in the differential diagnosis of pain localized to the groin-hip area, which could rather evoke hip osteonecrosis in this context.     

Hyperferritinemia revealing Gaucher's disease

Hyperferritinemia is frequently observed during Gaucher's disease but has never been described as an initial manifestation. We report the case of a 57-year-old woman without a previous medical history who presented with hyperferritinemia and IgG monoclonal gammopathy. The diagnostic procedure was negative except for the bone marrow biopsy, which revealed Gaucher's cells. Low beta-glucocerebrosidase activity in leukocytes confirmed the diagnosis of adult Gaucher's disease. We discuss the differential diagnosis and the mechanisms of hyperferritinemia in this disease.     

Unusual pericardial calcification in Gaucher's disease

Gaucher's disease is a hereditary metabolic disorder characterized by the abnormal accumulation of glucocerebrosides in reticuloendothelial cells. A 58-year-old man had Gaucher's disease and suffered from hypersplenism, cirrhosis of the liver, and free-floating calcifications in the pericardial space. The literature of the pericardial involvement in Gaucher's disease is reviewed.     

Parkinsonism in type I Gaucher's disease

The majority of patients with type I Gaucher's disease never develop neurological signs or symptoms. However, several case reports of Parkinson's disease associated with type I Gaucher's disease have been published, suggesting a genetic link between the two diseases. Hence, detailed clinical investigations are required when the two diseases occur simultaneously, in order to determine whether this is coincidental or whether a true association is present. We present a Japanese man in whom parkinsonism was associated with type I Gaucher's disease. Findings of brain positron tomography (PET) and metaiodobenzylguanidine (MIBG) cardiac scintigraphy are presented.