Bronchoalveolar lavage in a girl with Gaucher's disease. A case report

A case of Gaucher's disease with pulmonary involvement occurred. Numerous Gaucher cells were seen in bronchoalveolar lavage (BAL) fluid on two occasions in a girl with Gaucher's disease and respiratory symptoms. The Gaucher cells resembled macrophages with eccentric, small, oval nuclei but were distinguished by their abundant cytoplasm with the characteristic "rumpled tissue paper" appearance. The Gaucher cells were in a cellular background composed mainly of macrophages. These cells stained strongly positive with periodic acid-Schiff stain. Electron microscopy revealed numerous intracytoplasmic, elongated, membrane-bound lysosomes containing the characteristic twisted tubular structures. Severe pulmonary involvement is seen infrequently in all types of Gaucher's disease, and it is especially rare in the adult and juvenile forms (types I and III). To our knowledge, Gaucher cells have never been found before in BAL fluid. This case shows that BAL can be a useful adjunct in diagnosing and following the progression of pulmonary involvement in patients with Gaucher's disease.