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

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. [JBCGenetics 2019; 2(2.000): 139-142]

Keywords

• wolman disease
• lysosomal acid lipase
• lal
• adrenal calcification
• lipa gene
• jazan
• an inborn error of metabolism
• next-generation sequencing
• registry