-Case Reports-

Cholelithiasis in a Patient with Type 2 Gaucher Disease

Makoto Migita^1,2, Sakae Kumasaka³, Tae Matsumoto², Hanako Tajima², Takahiro Ueda² and Atsuyuki Yamataka⁴

¹Department of Pediatrics, Nippon Medical School, Musashi Kosugi Hospital
²Department of Pediatrics, Nippon Medical School
³Department of Neonatology, Japanese Red Cross Katsushika Maternity Hospital
⁴Department of Pediatric Surgery, Juntendo University

Gaucher disease is an autosomal recessively inherited lysosomal storage disease in which a deficiency of glucocerebrosidase is associated with the accumulation of glucocerebroside in reticuloendothelial cells. Clinically, 3 types of Gaucher disease have been defined on the basis of the presence or absence of neurological symptoms. The frequency of gallbladder involvement is reportedly greater in patients with type 1 Gaucher disease than in healthy persons. We report a case of recurrent cholelithiasis and liver failure in a patient with type 2 Gaucher disease who showed severe progressive neurological involvement.

J Nippon Med Sch 2014; 81: 40-42

Keywords
Gaucher disease, cholelithiasis

Correspondence to
Makoto Migita, MD, PhD, Department of Pediatrics, Nippon Medical School Musashi Kosugi Hospital, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki, Kanagawa 211-8533, Japan
mmigita@nms.ac.jp

Received, December 8, 2012
Accepted, February 8, 2013