A case of Williams syndrome with suspected coexisting ectopic aldosterone-producing tumor in the liver

Shuhei Baba, Arina Miyoshi, Shinji Obara, Hiroaki Usubuchi, Satoshi Terae, Masao Sunahara, Takahiro Oshima, Kazuhito Misawa, Takahiro Tsuji, Bunya Takahashi, Yuto Yamazaki, Hironobu Sasano, Norio Wada

研究成果: Article査読

抄録

A 31-year-old man with Williams syndrome (WS) was referred to our hospital because of a 9-year history of hypertension, hypokalemia, and high plasma aldosterone concentration to renin activity ratio. A diagnosis of primary aldosteronism (PA) was clinically confirmed but an abdominal CT scan showed no abnormal findings in his adrenal glands. However, a 13-mm hypervascular tumor in the posterosuperior segment of the right hepatic lobe was detected. Adrenal venous sampling (AVS) subsequently revealed the presence of an extended tributary of the right adrenal vein to the liver surrounding the tumor. Segmental AVS further demonstrated a high plasma aldosterone concentration (PAC) in the right superior tributary vein draining the tumor. Laparoscopic partial hepatectomy was performed. The resected tumor histologically separated from the liver was composed of clear cells, immunohistochemically positive for aldesterone synthase (CYP11B2), and subsequently diagnosed as aldosterone-producing adrenal adenoma. After surgery, his blood pressure, serum potassium level, plasma renin activity and PAC were normalized. To the best of our knowledge, this is the first report of WS associated with PA. WS harbors a high prevalence of hypertension and therefore PA should be considered when managing the patients with WS and hypertension. In this case, the CT findings alone could not differentiate the adrenal rest tumor. Our case, therefore, highlights the usefulness of segmental AVS to distinguish adrenal tumors from hepatic adrenal rest tumors.

本文言語English
論文番号20-0057
ページ(範囲)1-5
ページ数5
ジャーナルEndocrinology, Diabetes and Metabolism Case Reports
2020
1
DOI
出版ステータスPublished - 2020

ASJC Scopus subject areas

  • 内科学
  • 内分泌学、糖尿病および代謝内科学

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