ABSTRACT
Gaucher's disease (GD) may go undiagnosed for many years, leading to severe complications that are preventable or reversible by enzyme replacement therapy with imiglucerase. GD is associated with cytopenia, bone complications, hepatosplenomegaly, hypermetabolism, and hyperactivity of the immune system manifested by polyclonal hyper gamma-globulinemia and an increased incidence of monoclonal gammopathies. High ferritin and presence of autoimmune antibodies may present and because of these abnormalities, clinical similarities with primary liver diseases may occur. We report on two patients who suffered diagnostic delay that could potentially lead to life-threatening manifestations of GD. Potential complications include: avascular necrosis, severe bleeding, chronic bone pain, life-threatening sepsis, pathologic fractures, growth failure, and liver pathology. Physician awareness will increase the likelihood of prompt detection of GD and improve its management.
Subject(s)
Gaucher Disease/diagnosis , Liver Diseases/diagnosis , Adult , Alanine Transaminase/blood , Autoantibodies/blood , Diagnosis, Differential , Enzyme Replacement Therapy , Ferritins/blood , Gaucher Disease/enzymology , Gaucher Disease/pathology , Gaucher Disease/therapy , Glucosylceramidase/therapeutic use , Humans , Male , Middle Aged , Platelet Count , Splenomegaly/therapyABSTRACT
BACKGROUND CONTEXT: Vertebral osteomyelitis and disciitis caused by Aspergillus spp is a rare event. Early diagnosis and early antifungal therapy are critical in improving the prognosis for these patients. The diagnosis of invasive fungal infections is, in many cases, not straightforward and requires invasive procedures so that histological examination and culture can be performed. Furthermore, current traditional microbiological tests (ie, cultures and stains) lack the sensitivity for diagnosis of invasive aspergillosis. PURPOSE: To present a case of vertebral osteomyelitis caused by Aspergillus spp diagnosed using a novel polymerase chain reaction (PCR) assay. STUDY DESIGN: Case report. METHODS: Aspergillus DNA was detected in DNA extracted from the necrotic bone tissue by using a "panfungal" PCR novel method. RESULTS: Treatment with voriconazole was started based on the diagnosis. CONCLUSION: Using this novel technique enabled us to diagnose accurately an unusual bone pathogen that requires a unique treatment.
