Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation.
BACKGROUND
Gaucher disease type I, the non-neuropathic type, usually presents in adulthood with hepatosplenomegaly. We report here an adult with type I Gaucher disease presented with unusual and severe clinical manifestations.


METHODS
Hepatosplenomegaly, bone crisis and fractures occurred at early childhood, and splenectomy was performed at the age of 5. Exophthalmos with increase in retrobulbar space was noted when the patient was 30. Cerezyme infusion started at the age of 32; but unfortunately, pulmonary arteriovenous malformation with dyspnea and hypoxemia was found two years later. Gene analysis revealed V375L/L444P mutations in the beta-glucocerebrosidase gene.


CONCLUSIONS
Although both eye and lung diseases have been associated with Gaucher disease, this is the first reported demonstration of exophthalmos and pulmonary arteriovenous malformation in the same patient. This case may therefore present an extremely severe and unusual form of type I Gaucher disease.
Chen
Chun-An
CA
Departments of Pediatric, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. chenca@ntu.edu.tw
Tang
Nelson L S
NL
Chien
Yin-Hsiu
YH
Zhang
Wei-Min
WM
Wang
Jou-Kou
JK
Hwu
Wuh-Liang
WL
D000328:Adult; D001165:Arteriovenous Malformations / Q000209:etiology*; D005094:Exophthalmos / Q000209:etiology*; D005260:Female; D005776:Gaucher Disease / Q000150:complications*; D006801:Humans; D011651:Pulmonary Artery / Q000002:abnormalities*