Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 16, 2023; 11(26): 6262-6267
Published online Sep 16, 2023. doi: 10.12998/wjcc.v11.i26.6262
Efficacy of tolvaptan in an infant with syndrome of inappropriate antidiuretic hormone secretion associated with holoprosencephaly: A case report
Mari Mori, Satoru Takeshita, Nami Nakamura, Yuki Mizuno, Akiko Tomita, Mineyoshi Aoyama, Hiroki Kakita, Yasumasa Yamada
Mari Mori, Satoru Takeshita, Nami Nakamura, Hiroki Kakita, Yasumasa Yamada, Department of Perinatal and Neonatal Medicine, Aichi Medical University, Nagakute 480-1195, Japan
Satoru Takeshita, Mineyoshi Aoyama, Hiroki Kakita, Department of Pathobiology, Nagoya City University Graduate School of Pharmaceutical Sciences, Nagoya 467-8603, Japan
Nami Nakamura, Department of Pediatrics, Aichi Medical University, Nagakute 480-1195, Japan
Yuki Mizuno, Akiko Tomita, Department of Pharmacy, Aichi Medical University, Nagakute 480-1195, Japan
Author contributions: Mori M wrote this manuscript under the supervision of Takeshita S, Aoyama M, Kakita H, and Yamada Y; Nakamura N was involved in the patient’s treatment planning; Mizuno Y and Tomita A confirmed the drug’s side effects and safety; and all authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for the publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no competing interests.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Satoru Takeshita, MD, PhD, Lecturer, Department of Perinatal and Neonatal Medicine, Aichi Medical University, 2811-1 Yazakokarimata, Nagakute 480-1195, Japan. satorut@aichi-med-u.ac.jp
Received: June 6, 2023
Peer-review started: June 6, 2023
First decision: July 28, 2023
Revised: July 31, 2023
Accepted: August 15, 2023
Article in press: August 15, 2023
Published online: September 16, 2023
Processing time: 93 Days and 23.7 Hours
Abstract
BACKGROUND

Holoprosencephaly (HPE) is a congenital malformation with various degrees of incomplete separation of the cerebral hemispheres due to differentiation disorders of the forebrain. Although HPE with diabetes insipidus due to associated pituitary dysfunction has been reported, HPE with the syndrome of inappropriate antidiuretic hormone secretion (SIADH) is very rare. Tolvaptan, a vasopressin V2 receptor antagonist, is effective in adults with SIADH. However, there is no report of its efficacy in infants with SIADH. The purpose of this report is to demonstrate that tolvaptan is effective for SIADH in infants and that administration of tolvaptan eliminates the need for restriction of water intake and sodium administration.

CASE SUMMARY

A 2414-g female infant was born at 38 wk by normal vaginal delivery. Facial anomalies and head magnetic resonance imaging indicated semilobar HPE. After birth, she had hyponatremia due to SIADH and was treated using water and sodium restriction. However, she developed an exaggerated response to the fluid restrictions, resulting in large fluctuations in serum sodium levels. Subsequent administration of tolvaptan improved the fluctuations in serum sodium levels without the need for adjustment of water or sodium administration. Serum sodium was maintained within the normal range after discontinuation of tolvaptan at 80 d of life. There were no side effects, such as hypernatremia or liver dysfunction, during the administration of tolvaptan.

CONCLUSION

This is the first report on the safety and efficacy of tolvaptan in an infant with SIADH associated with HPE.

Keywords: Tolvaptan; Holoprosencephaly; Antidiuretic hormone; Syndrome of inappropriate secretion of antidiuretic hormone; Hyponatremia; Case report

Core Tip: Holoprosencephaly with the syndrome of inappropriate antidiuretic hormone secretion (SIADH) is very rare. The main treatments for SIADH are restriction of water intake and sodium administration, which could inhibit the infant’s growth. Tolvaptan, a vasopressin V2 receptor antagonist, is effective in adults with SIADH but has not been reported in infants. In the present neonatal case, the patient developed SIADH, and a restriction of water intake and sodium administration caused the fluctuations in serum sodium levels. Subsequent administration of tolvaptan improved the serum sodium level. Tolvaptan could be a novel standard treatment for infants with SIADH.