Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 26, 2020; 8(10): 1995-2000
Published online May 26, 2020. doi: 10.12998/wjcc.v8.i10.1995
Tuberous sclerosis complex presenting as primary intestinal lymphangiectasia: A case report
Wen-Hao Lin, Zu-Han Zhang, Hong-Li Wang, Lu Ren, Lan-Lan Geng
Wen-Hao Lin, Zu-Han Zhang, Hong-Li Wang, Lu Ren, Lan-Lan Geng, Department of Gastroenterology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong Province, China
Author contributions: Lin WH wrote the case report portion and edited the final manuscript; Zhang ZH wrote the discussion portion and reviewed the final manuscript; Wang HL was responsible for retrieving and collating the references; Ren L and Geng LL reviewed the contents of the paper; all authors read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Lan-Lan Geng, MD, PhD, Chief Doctor, Professor, Department of Gastroenterology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, Guangzhou 510623, Guangdong Province, China. genglan_2001@hotmail.com
Received: February 3, 2020
Peer-review started: February 3, 2020
First decision: March 5, 2020
Revised: April 3, 2020
Accepted: April 21, 2020
Article in press: April 21, 2020
Published online: May 26, 2020
Core Tip

Core tip: We present the case of a patient with a history of primary intestinal lymphangiectasia (PIL). The patient was also diagnosed with tuberous sclerosis complex (TSC). Only two cases of PIL associated with TSC had been reported at the time of this writing, and this report presents the third case. It has been reported in previous cases that PIL patients can exhibit hypomelanotic macules or enamel hypoplasia, which are the clinical features of TSC. Through a review of the literature, it can be seen that changes at the molecular gene level of TSC can lead to lymphatic vessels abnormalities. These findings suggest that PIL may be a manifestation of TSC in some cases.