Researchers reported the case of a patient with cholesteryl ester storage disease (CESD), a form of lysosomal acid lipase deficiency (LAL-D), who had an atypical presentation and was discovered to be compound heterozygous for 2 mutations in the LIPA gene. Their report was published in Atherosclerosis.

CESD is a disorder caused by mutations in the LIPA gene, which encodes the lysosomal acid lipase (LAL) enzyme. The main feature of CESD is very low LAL activity; it differs from Wolman disease, in which a person has a complete LAL deficiency. 

The case study details a 2-year-old child who presented with microcephaly. Laboratory investigations revealed high total cholesterol (243 mg/dL) and triglyceride (272 mg/dL) levels. The child’s physicians then carried out next-generation sequencing, which did not reveal any pathogenic mutations for hypertriglyceridemia or familial hypercholesterolemia. 


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“However, the proband was found to be carrier of two mutations in the LIPA gene (c.883C>T -p.His295Tyr- and c.929G>A – p.Trp310Ter),” the authors of the study wrote.

Read more about LAL-D epidemiology 

Further analysis into the patient’s LAL activity revealed that it was less than 5% of what was considered normal. The His295Tyr variant is a mutation associated with CESD; the Trp310Ter variant has been described in 2 newborns of Sicilian origin who had Wolman disease. Further investigations revealed that the father of the child had the His295Tyr mutation, while the mother had the Trp310Ter mutation. 

The patient was hence diagnosed with CESD despite the patient’s uncommon clinical presentation. 

Reference

Scrimali C, Brucato F, Caserta M, et al. Uncommon presentation of cholesteryl ester storage disease (CESD): description of a case and genetic characterization by next generation sequencing. Atherosclerosis. 2022;355:50-51. doi:10.1016/j.atherosclerosis.2022.06.227