-Case Reports-

Lysosomal Acid Lipase Deficiency in Japan: A Case Report of Siblings and a Literature Review of Cases in Japan

Naoyuki Ikari¹, Akira Shimizu² and Takeshi Asano¹

¹Department of Pediatrics, Nippon Medical School
²Department of Diagnostic Pathology, Nippon Medical School Hospital

We report on two siblings with early onset lysosomal acid lipase deficiency or Wolman disease. Their parents had a consanguineous marriage. The children showed evidence of abdominal distension and failed to thrive, despite having regular nutrition. At 3-4 months of age, their abdominal distension and jaundice progressed rapidly and they died of liver failure. Sebelipase alfa, a recombinant form of human lysosomal acid lipase has recently been used as an enzyme replacement therapy in patients with later-onset cholesteryl ester storage disease. Therefore, we investigated cases of lysosomal acid lipase deficiency in Japan and found that the number of cases was extremely low. Only 14 cases of Wolman disease and seven cases of cholesteryl ester storage disease were reported. As it is now possible to treat lysosomal acid lipase deficiency, it is important to increase awareness of this disease among pediatricians and doctors working in internal medicine.

J Nippon Med Sch 2018; 85: 131-137

Keywords
lysosomal acid lipase deficiency, Wolman disease, Japan

Correspondence to
Takeshi Asano, MD, Department of Pediatrics, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba 270-1694, Japan
July1364@nms.ac.jp

Received, November 6, 2017
Accepted, November 20, 2017