Case Report
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Jan 21, 2015; 21(3): 1001-1008
Published online Jan 21, 2015. doi: 10.3748/wjg.v21.i3.1001
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency
Yuritzi Santillán-Hernández, Enory Almanza-Miranda, Winnie W Xin, Kendrick Goss, Aurea Vera-Loaiza, María T Gorráez-de la Mora, Raul E Piña-Aguilar
Yuritzi Santillán-Hernández, Aurea Vera-Loaiza, Medical Genetics Department, Centro Médico Nacional “20 de Noviembre”, ISSSTE, México City 03100, México
Enory Almanza-Miranda, Pediatric Gastroenterology Department, Centro Médico Nacional “20 de Noviembre”, ISSSTE, México City 03229, México
Winnie W Xin, Kendrick Goss, Neurogenetics DNA Diagnostic Laboratory, Massachusetts General Hospital, Boston, MA 02114, United States
María T Gorráez-de la Mora, Pathology Department, Centro Médico Nacional “20 de Noviembre”, ISSSTE, México City 03229, México
Raul E Piña-Aguilar, Medical Genomics Division, Centro Médico Nacional “20 de Noviembre”, ISSSTE, México City 03100, México
Author contributions: Santillán-Hernández Y, Almanza-Miranda E, Vera-Loaiza A and Piña-Aguilar RE designed the report; Goss K and Xin WW performed the genetic analyses; Piña-Aguilar RE, Almanza-Miranda E, Vera-Loaiza A and Santillán-Hernández Y collected the patient’s clinical data; Gorráez-de la Mora MT performed the pathology studies and analyzed histological data; Piña-Aguilar RE, Almanza-Miranda E, Vera-Loaiza A, Goss K and Xin WW analyzed the data and wrote the paper.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
Correspondence to: Raul E Piña-Aguilar, MD, Medical Genomics Division, Centro Médico Nacional “20 de Noviembre”, ISSSTE, San Lorenzo #502D, Col. del Valle, Del. Benito Juarez, México City 03100, México. rpina.a@hotmail.com
Telephone: +52-55-52005003-14645
Received: June 18, 2014
Peer-review started: June 18, 2014
First decision: July 21, 2014
Revised: August 12, 2014
Accepted: September 29, 2014
Article in press: September 30, 2014
Published online: January 21, 2015
Processing time: 216 Days and 18.6 Hours
Core Tip

Core tip: Lysosomal acid lipase deficiency is a rare genetic disorder related to the metabolism of cholesterol and triglycerides inside the lysosome. In this report, we present the findings from two siblings with no lysosomal acid lipase activity caused by two previously unidentified mutations in exon 4 of LIPA. The patients had early hepatic presentation, including severe cirrhosis and esophageal varices in the elder sibling, underscoring the significant morbidity that can occur at all ages of lysosomal acid lipase deficiency and highlighting possible compensatory mechanisms in liver function in children.