A patient with type 2 Gaucher's disease with respiratory disease.
A 5-month-old boy had respiratory problems and gastroesophageal reflux. Electron microscopy of a tracheal biopsy specimen showed accumulation of lamellar bodies in the columnar cells indicative of lysosomal storage disease. Subsequently, the child had neurologic symptoms and hepatosplenomegaly, and the diagnosis of Gaucher's disease type 2 was made.
Shebani
Eyman
E
Departments of Medical Cell Biology, University of Uppsala, Uppsala, Sweden.
Johannesson
Marie
M
Strömberg
Bo
B
Roomans
Godfried M
GM
D001706:Biopsy; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005764:Gastroesophageal Reflux / Q000209:etiology*; D005776:Gaucher Disease / Q000145:classification / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005962:Glucosylceramidase / Q000627:therapeutic use; D006529:Hepatomegaly; D006801:Humans; D007223:Infant; D008297:Male; D017348:Microscopy, Electron, Scanning Transmission; D009297:Nasal Mucosa / Q000473:pathology / Q000648:ultrastructure; D012140:Respiratory Tract Diseases / Q000209:etiology*; D013163:Splenomegaly; D014132:Trachea / Q000473:pathology / Q000648:ultrastructure
D005962:Glucosylceramidase; C090568:imiglucerase