[Gaucher's disease suspected by abdominal echography findings].
Abdominal ultrasonographic findings of Gaucher's disease had been reported, but a specific pattern has not been described. We report here a patient with an abdominal sonographic pattern which was concluded to be strongly suggestive of Gaucher's disease: solid focal splenic lesions with different patterns (hypoechoic, hiperechoic and mixed nodules associated with hypoechoic irregular areas) and bright liver and spleen echo pattern with posterior beam attenuation. Gaucher's disease was subsequently confirmed by determination of leukocyte beta-glucosidase activity and mutations of glucocerebrosidase gene.
Castellano
G
G
Servicio de Medicina de Aparato Digestivo, Hospital Universitario 12 de Octubre, Madrid.
Yela
M C
MC
Martín
A
A
Manzano
M L
ML
Colina
F
F
Solís
J A
JA
D000005:Abdomen / Q000000981:diagnostic imaging*; D000328:Adult; D001706:Biopsy; D005776:Gaucher Disease / Q000000981:diagnostic imaging* / Q000201:enzymology / Q000473:pathology; D005962:Glucosylceramidase / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000000981:diagnostic imaging* / Q000473:pathology; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D013154:Spleen / Q000000981:diagnostic imaging*; D014463:Ultrasonography; D001617:beta-Glucosidase / Q000097:blood
D001617:beta-Glucosidase; D005962:Glucosylceramidase
Enfermedad de Gaucher sospechada por los hallazgos de la ecografía abdominal.