Home|Journals|Articles by Year|Audio Abstracts
 

Case Report



Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia

Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi.




Abstract

Background: Wolman disease (WD) severe lysosomal acid lipase is a rare, autosomal recessive lysosomal storage disease caused by the absence or deficiency of lysosomal acid lipase enzyme. This deficiency leads to the accumulation of cholesterol esters and triglycerides in multiple organs of the body. Jazan Region is the second smallest region of Saudi Arabia. It stretches 300 km (190 mi) along the southern Red Sea coast, just north of Yemen. It covers an area of 11,671 km² and has a population of 1,567,547 at the 2017 census. The region has the highest population density in the Kingdom and a high consanguinity marriage rate. Case Presentation: We report a rare case of WD, misdiagnosed by a surgeon to be pyloric stenosis, treated for a while as renal tubular acidosis, found to have typical WD presentation of malabsorption, hepatosplenomegaly, and adrenal calcification. Conclusion: This case report is the first report that described the existence of WD in the Jazan region up to date.

Key words: Wolman disease, lysosomal acid lipase, LAL, adrenal calcification, LIPA gene, Jazan, an inborn error of metabolism, next-generation sequencing, registry.






Full-text options


Share this Article


Online Article Submission
• ejmanager.com




ejPort - eJManager.com
Refer & Earn
JournalList
About BiblioMed
License Information
Terms & Conditions
Privacy Policy
Contact Us

The articles in Bibliomed are open access articles licensed under Creative Commons Attribution 4.0 International License (CC BY), which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.