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Cholesterol ester storage disease: clinical, biochemical, and pathological studies of four new cases
1Department of Pediatrics, Hospital Italiano-Buenos Aires, Argentina.
Insights
Cholesterol ester storage disease (CESD) is rare in children. Early detection of CESD is crucial for managing complications, as no specific treatment currently exists.
Area of Science:
- Biochemistry
- Pediatric Gastroenterology
- Genetics
Background:
- Cholesterol ester storage disease (CESD) is an uncommon inherited metabolic disorder.
- It is characterized by the accumulation of cholesterol esters in various tissues, primarily the liver.
- CESD can present with a spectrum of clinical symptoms in affected children.
Observation:
- This study presents four new pediatric cases of CESD across two unrelated families.
- Clinical manifestations ranged from neonatal cholestasis to asymptomatic hepatomegaly.
- Hepatic histology revealed characteristic lipid vacuoles and cholesterol ester deposition in hepatocytes and Kupffer cells.
Findings:
- Biochemical analysis confirmed acid lipase deficiency in leukocytes of the CESD patients.
- Affected parents exhibited reduced acid lipase activity (approximately 50%).
- Elevated cholesterol levels and hepatomegaly were consistently observed as initial clinical findings.
Implications:
- CESD requires early identification due to the absence of specific therapeutic interventions.
- Timely diagnosis facilitates proactive management and control of potential complications.
- Understanding the genetic basis and clinical spectrum aids in better patient care and genetic counseling.
Abstract:
Cholesterol ester storage disease (CESD) is infrequent in children. Four new cases in two nonrelated families are presented. Acid lipase deficiency in the leukocytes of the patients and reduced activity (50%) in those of parents were demonstrated. Clinical manifestations varied from neonatal cholestasis to asymptomatic hepatomegaly. Hepatic histology showed lipid vacuoles and cholesterol ester storage in hepatocytes and Kupffer cells. Increased levels of cholesterol and hepatomegaly were the first findings. There is as yet no specific treatment for CESD; however, the early detection of cases would make possible the timely control of complications.