Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review

Makoto Samukawa, Naoko Nakamura, Makito Hirano, Miyuki Morikawa, Hanami Sakata, Ichizo Nishino, Rumiko Izumi, Naoki Suzuki, Hiroshi Kuroda, Kensuke Shiga, Kazumasa Saigoh, Masashi Aoki, Susumu Kusunoki

研究成果: Article

抜粋

Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy. We report a detailed case study of a 53-year-old man with NLSDM. The PNPLA2 gene was analyzed according to the reported method. We summarized the clinical, laboratory, and genetic information of 56 patients, including our patient and 55 other reported patients with homozygous or compound heterozygous mutations in the PNPLA2 gene. We found a novel homozygous mutation (c.194delC) in the PNPLA2 gene that resulted in frameshift. The patient suffered from normal-tension glaucoma and pulmonary cysts, symptoms that are relatively common in the elderly but were not previously reported for this disease. Our summary confirmed that Jordan's anomaly, polymorphonuclear leukocytes with lipid accumulation, was the most consistent finding of this disease. Because this disease is potentially treatable, our results may help rapid and correct diagnosis.

元の言語English
ジャーナルEuropean Neurology
DOI
出版物ステータスAccepted/In press - 2020

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Samukawa, M., Nakamura, N., Hirano, M., Morikawa, M., Sakata, H., Nishino, I., Izumi, R., Suzuki, N., Kuroda, H., Shiga, K., Saigoh, K., Aoki, M., & Kusunoki, S. (受理済み/印刷中). Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review. European Neurology. https://doi.org/10.1159/000508346