BRONCHOALVEOLAR LAVAGE IN A GIRL WITH GAUCHERS-DISEASE - A CASE-REPORT

A case of Gaucher's disease with pulmonary involvement occurred. Numer ous Gaucher cells were seen in bronchoalveolar lavage (BAL) fluid on t wo 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 cha racteristic ''rumpled tissue paper'' appearance. The Gaucher cells wer e in a cellular background composed mainly of macrophages. These cells stained strongly positive with periodic acid-Schiff stain. Electron m icroscopy revealed numerous intracytoplasmic, elongated, membrane-boun d lysosomes containing the characteristic twisted tubular structures. Severe pulmonary involvement is seen infrequently in all types of Gauc her's disease, and it is especially rare in the adult and juvenile for ms (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 ad junct in diagnosing and following the progression of pulmonary involve ment in patients with Gaucher's disease.