A Case of Late Onset Gaucher Disease with Severe Pulmonary Involvement and Concurrent Tuberculosis

Gaucher Disease is the most common of the storage diseases characterized by deficiency of the enzyme glucocerebrosidase and thus accumulation of glucocerebroside in lysosomal macrophages resulting in multiple organomegalies and functional abnormalities. The absence of the enzyme or its cofactors is a genetically inherited (autosomal recessive) abnormality and multiple mutations are being discovered recently. The disease manifests itself in 3 distinct clinical forms with different prognosis. Diagnosis is best made by detection of B-glucosidase activity in leucocytes but usually it is done by recognition of typical Gaucher cells in the bone marrow microscopically. Many organ systems are reported to be involved in Gaucher disease. Though pulmonary involvement is rarely encountered, it reflects a poor prognosis resulting in death in many of the patients. We describe a case of Gaucher disease of late onset with outstanding pulmonary symptoms causing death in a short period of time. An interesting feature of this case was the coexistence of tuberculosis, discovered at the postmortem examination involving multiple tissues. This coexistence was not only rare but it was also conflicting with the reports underlining the genetic resistance of Gaucher patients against tuberculosis. Thus one must consider coexisting diseases together with Gaucher's disease when pulmonary involvement is concerned.