title: Pulmonary hemorrhage in type 3 Gaucher disease: a case report.
abstract: A 2-year-old boy with type 3 Gaucher disease (GD) on treatment with enzyme replacement therapy (ERT) was found dead in bed having been apparently well the night before. At the time of diagnosis, he had significant respiratory symptoms (severe and persistent bouts of coughing) that had been attributed to Gaucher lung infiltration and that were controlled by inhaled and orally administered steroids. These symptoms had begun to reappear just prior to death. Postmortem revealed extensive pulmonary hemorrhage and intra-alveolar collections of Gaucher cells. There was very little evidence of GD elsewhere. Death was ascribed to pulmonary hemorrhage secondary to GD. The pathogenesis was unclear. To the best of our knowledge, this is the first case of isolated pulmonary hemorrhage secondary to GD and may represent a hitherto unrecognized complication of this condition. Given the apparent temporal relationship, we propose that it represented a severe, terminal event in the course of Gaucher lung disease.
authors.affiliation: Great Ormond Street Hospital for Children NHS Trust, WC1N 3JH London, UK. VelloA@gosh.nhs.uk
authors.forename: Ashok
authors.initials: A
authors.lastname: Vellodi
authors.forename: Michael
authors.initials: M
authors.lastname: Ashworth
authors.forename: Niamh
authors.initials: N
authors.lastname: Finnegan
authors.forename: Colin
authors.initials: C
authors.lastname: Wallis
mesh_terms: D000280:Administration, Inhalation; D000284:Administration, Oral; D001344:Autopsy; D002675:Child, Preschool; D003371:Cough / Q000188:drug therapy / Q000209:etiology; D004200:Diseases in Twins; D056947:Enzyme Replacement Therapy; D017809:Fatal Outcome; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D005962:Glucosylceramidase / Q000627:therapeutic use; D006470:Hemorrhage / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D008171:Lung Diseases / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D013256:Steroids / Q000008:administration & dosage
chemical_list: D013256:Steroids; D005962:Glucosylceramidase; C090568:imiglucerase