[Cholesterol ester storage disease]

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Inborn errors of lipid metabolism are rare genetic disorders affecting lipid processing.
• Lysosomal acid lipase (LAL) deficiency encompasses Cholesterol Ester Storage Disease (CESD) and Wolman disease, based on LAL enzyme activity.
• CESD results from partial LAL deficiency, leading to cholesterol and triglyceride accumulation.

Observation:

• A 4-year-old boy presented with hepatomegaly, splenomegaly, and intestinal lipid infiltration.
• Clinical manifestations included hypertriglyceridemia and hypercholesterolemia.
• Endoscopic and histological findings revealed lipid-laden macrophages in the intestinal mucosa and liver biopsy confirmed steatosis and lipid-rich hepatocytes.

Findings:

• The patient was diagnosed with Cholesterol Ester Storage Disease due to partial lysosomal acid lipase deficiency.
• Histopathology confirmed the accumulation of lipids within hepatocytes and macrophages.
• The clinical presentation correlated with the biochemical consequences of impaired cholesterol and triglyceride hydrolysis.

Implications:

• This case highlights the importance of considering inborn errors of lipid metabolism in pediatric patients with unexplained hepatosplenomegaly and dyslipidemia.
• Early identification of CESD and Wolman disease is essential for timely management and to prevent progressive organ damage.
• Screening for LAL deficiency should be considered in children presenting with the characteristic clinical triad of hepatomegaly, splenomegaly, and severe hyperlipidemia.