Case Report
Volume: 2 | Issue: 2 | Published: Jan 14, 2020 | Pages: 139 - 142 | DOI: 10.24911/JBCGenetics/183-1565654717
Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia
Authors: Mansour J. Alwadani , Ahmed E. Shammakhi , Zainab Faraj , Magbol Maghfuri , Mohammed A. Mahnashi
Article Info
Authors
Mansour J. Alwadani
General Pediatric Department, King Fahad Central Hospital, Jazan. Saudi Arabia
Ahmed E. Shammakhi
General Pediatric Department, King Fahad Central Hospital, Jazan. Saudi Arabia
Zainab Faraj
Clinical Genetic and Metabolic division of General Pediatric Department, King Fahad Central Hospital, Gizan, Saudi Arabia
Magbol Maghfuri
Clinical Genetic and Metabolic division of General Pediatric Department, King Fahad Central Hospital, Gizan, Saudi Arabia
Mohammed A. Mahnashi
Clinical Genetic and Metabolic division of General Pediatric Department, King Fahad Central Hospital, Gizan, Saudi Arabia
Publication History
Received: October 23, 2019
Revised: December 17, 2019
Accepted: December 27, 2019
Published: January 14, 2020
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.
Keywords: Wolman disease, lysosomal acid lipase, LAL, adrenal calcification, LIPA gene, Jazan, an inborn error of metabolism, next-generation sequencing, registry
Pubmed Style
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi. Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia. JBC Genetics. 2020; 14 (January 2020): 139-142. doi:10.24911/JBCGenetics/183-1565654717
Web Style
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi. Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia. https://www.jbcgenetics.com/index.php/articles/2184 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1565654717
AMA (American Medical Association) Style
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi. Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia. JBC Genetics. 2020; 14 (January 2020): 139-142. doi:10.24911/JBCGenetics/183-1565654717
Vancouver/ICMJE Style
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi. Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia. JBC Genetics. (2020), [cited April 27, 2025]; 14 (January 2020): 139-142. doi:10.24911/JBCGenetics/183-1565654717
Harvard Style
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi (2020) Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia. JBC Genetics, 14 (January 2020): 139-142. doi:10.24911/JBCGenetics/183-1565654717
Chicago Style
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi. "Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia." 14 (2020), 139-142. doi:10.24911/JBCGenetics/183-1565654717
MLA (The Modern Language Association) Style
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi. "Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia." 14.January 2020 (2020), 139-142. Print. doi:10.24911/JBCGenetics/183-1565654717
APA (American Psychological Association) Style
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi (2020) Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia. , 14 (January 2020), 139-142. doi:10.24911/JBCGenetics/183-1565654717