Ultrastructural features of gaucher disease treated with enzyme replacement therapy presenting as mesenteric mass lesions.
The classical ultrastructural features of Gaucher disease include large numbers of intracytoplasmic, membrane-bound lysosomal inclusions containing characteristic tubular structures on an electron-lucent background, representing the periodic acid schiff (PAS)-positive Gaucher cells identifiable on light microscopy. Following enzyme replacement therapy (ERT), many of the manifestations of the condition are ameliorated, but persistent mesenteric lymphadenopathy has been reported, the ultrastructural features of which previously have not been described. Two children, aged 4 and 8 years old, respectively, both presented with persistent abdominal lymphadenopathy whilst receiving ERT for Gaucher disease. Needle core biopsies were carried out, that demonstrated collections of macrophages and only scattered storage-type cells on light microscopy. PAS staining was negative in one case and only focally positive in the other Electron microscopic examination, however, confirmed the cells represented macrophages, the cytoplasm of which contained scattered abnormal inclusions containing occasional twisted tubular structures of the type reported in classic Gaucher disease. ERT in Gaucher disease appears to reduce accumulation of the metabolic products at many sites. But for uncertain reasons, abdominal lymphadenopathy may occur containing macrophages that do not form granulomas or classic Gaucher cells on light microscopy. These probably represent incomplete clearance, incomplete/partial enzyme replacement, or possibly an unusual response to a relatively small amount of storage material.
Fowler
D J
DJ
Department of Paediatric Pathology, Great Ormond Street Hospital for Children, London, United Kingdom.
Weber
M A
MA
Anderson
G
G
Malone
M
M
Sebire
N J
NJ
Vellodi
A
A
D044963:Biopsy, Fine-Needle; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000473:pathology*; D005962:Glucosylceramidase / Q000172:deficiency / Q000627:therapeutic use*; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D008206:Lymphatic Diseases / Q000209:etiology*; D046529:Microscopy, Electron, Transmission
D005962:Glucosylceramidase