著者

Yujiro Nakano Chikara Komiya Hitomi Shimizu Hiroyuki Mishima Kumiko Shiba Kazutaka Tsujimoto Kenji Ikeda Kenichi Kashimada Sumito Dateki Koh-ichiro Yoshiura Yoshihiro Ogawa Tetsuya Yamada

出版者

The Japan Endocrine Society

雑誌

Endocrine Journal (ISSN:09188959)

巻号頁・発行日

vol.67, no.11, pp.1099-1105, 2020 (Released:2020-11-28)

参考文献数

27

被引用文献数

3 3

---

Sitosterolemia is caused by homozygous or compound heterozygous gene mutations in either ATP-binding cassette subfamily G member 5 (ABCG5) or 8 (ABCG8). Since ABCG5 and ABCG8 play pivotal roles in the excretion of neutral sterols into feces and bile, patients with sitosterolemia present elevated levels of serum plant sterols and in some cases also hypercholesterolemia. A 48-year-old woman was referred to our hospital for hypercholesterolemia. She had been misdiagnosed with familial hypercholesterolemia at the age of 20 and her serum low-density lipoprotein cholesterol (LDL-C) levels had remained about 200–300 mg/dL at the former clinic. Although the treatment of hydroxymethylglutaryl-CoA (HMG-CoA) reductase inhibitors was ineffective, her serum LDL-C levels were normalized by ezetimibe, a cholesterol transporter inhibitor. We noticed that her serum sitosterol and campesterol levels were relatively high. Targeted analysis sequencing identified a novel heterozygous ABCG5 variant (c.203A>T; p.Ile68Asn) in the patient, whereas no mutations were found in low-density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 (PCSK9), or Niemann-Pick C1-like intracellular cholesterol transporter 1 (NPC1L1). While sitosterolemia is a rare disease, a recent study has reported that the incidence of loss-of-function mutation in the ABCG5 or ABCG8 gene is higher than we thought at 1 in 220 individuals. The present case suggests that serum plant sterol levels should be examined and ezetimibe treatment should be considered in patients with hypercholesterolemia who are resistant to HMG-CoA reductase inhibitors.

著者

Hiroyuki MISHIMA Junichi AYABE Mutsumi TAKADERA Yusuke TSUCHIYA Taisuke KAWASAKI Masayuki OKANO Masanori ISODA Yoshihide TANAKA

出版者

The Japan Neurosurgical Society

雑誌

NMC Case Report Journal (ISSN:21884226)

巻号頁・発行日

vol.9, pp.209-212, 2022-12-31 (Released:2022-07-08)

参考文献数

9

---

The causes of spinal epidural hematoma (SEH) have been attributed to coagulopathy, trauma, vascular anomalies, and so forth. The incidence of vascular anomalies shown by digital subtraction angiography has been reported to be 15%, and most cases have been reported to be spinal epidural arteriovenous fistulae. SEH has rarely been caused by venous congestion. We report a case of SEH in a 78-year-old male who presented to our emergency department with sudden-onset back pain, followed by complete paraplegia with bladder and rectal disturbance. Magnetic resonance imaging revealed a dorsally placed extradural hematoma extending from T10 to L1. An urgent laminectomy from T11 to L2 was performed. Computed tomography angiography (CTA) performed 1 week after the operation showed compression of the left renal vein between the aorta and superior mesenteric artery with dilation of the surrounding veins, including the spinal epidural venous plexus, at the same level as the hematoma. This was diagnosed as Nutcracker syndrome (NCS), which was consistent as a cause of SEH. The patient's symptoms gradually improved, and after 6 months, he regained normal strength in his lower extremities, but bladder and rectal disturbance remained and required intermittent self-catheterization. We chose conservative treatment for NCS, and SEH did not recur until the patient died of a cause unrelated to SEH or NCS. SEH could occur secondary to venous congestion including NCS. We emphasize the importance of investigating venous return to evaluate the etiology of SEH, which can be clearly visualized using CTA.