Cholesterinesterspeicherkrankheit als Ursache einer Hepatomegalie im Kindesalter

Limbach, Abberly Lott; Steppberger, K.; Naumann, Alexander; Sandig, K. R.; Keller, E

doi:10.1007/s00112-002-0576-y

Cited by 4 publications

(1 citation statement)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is also unclear whether the remarkable growth spurt in our patient after initiating therapy was related to the treatment or occurred by chance and was due to constitutional growth retardation. This symptom has been described in one further CESD patient [14]. Lipid deposits in cerebral and adrenal endocrinal cells may impair hormone synthesis of the pituitary/adrenal axis.…”

Section: Case Reportmentioning

confidence: 71%

Cholesteryl Ester Storage Disease: an Easily Missed Diagnosis in Oligosymptomatic Children

et al. 2013

Self Cite

View full text Add to dashboard Cite

Cholesteryl ester storage disease (CESD) is a rare, autosomal recessively inherited disorder resulting from deficient activity of lysosomal acid lipase (LAL). LAL is the key enzyme hydrolyzing cholesteryl esters and triglycerides stored in lysosomes after LDL receptor-mediated endocytosis. Mutations within the LIPA gene locus on chromosome 10q23.2-q23.3 may result either in the always fatal Wolman disease, where no LAL activity is found, or in the more benign disorder CESD with a reduced enzymatic activity, leading to massive accumulation of cholesteryl esters and triglycerides in many body tissues. CESD affects mostly the liver, the spectrum is ranging from isolated hepatomegaly to liver cirrhosis. Chronic diarrhea has been reported in some pediatric cases, while calcifications of the adrenal glands, the hallmark of Wolman disease, are rarely observed. Hypercholesterolemia and premature atherosclerosis are other typical disease manifestations. Hepatomegaly as a key finding has been reported in all 71 pediatric patients and in 134 of 135 adult cases in the literature. We present a 13-year-old boy with mildly elevated liver enzymes in the absence of hepatomegaly, finally diagnosed with CESD. Under pravastatine treatment, the patient has normal laboratory findings and is clinically unremarkable since 5 years of follow-up. To our knowledge, this is the first pediatric case of genetically and biopsy confirmed CESD without hepatomegaly, suggesting that this diagnosis can be easily missed. It further raises the question about the natural course and the therapy required for this oligosymptomatic form.

show abstract

Section: Case Reportmentioning

confidence: 71%

Cholesteryl Ester Storage Disease: an Easily Missed Diagnosis in Oligosymptomatic Children

et al. 2013

Self Cite

View full text Add to dashboard Cite

show abstract

Metabolic disorders and storage diseases

2006

Hepatology Principles and Practice

View full text Add to dashboard Cite

Cholesterol ester storage disease

Weiler

Freudenberg²,

Müller‐Höcker³

2009

Pathologe

View full text Add to dashboard Cite

We report the case of a 13-year-old boy with a longstanding history of unspecific hepatomegaly. The morphological investigations were diagnostic of a cholesterol ester storage disease (CESD), a rare autosomal recessive inherited disease with deficient activity of lysosomal acid lipase (LAL). The combination of hepatomegaly with accumulation of macrophages and ultrastructural evidence of lysosomal lipid storage are groundbreaking for the diagnosis. The probability of a underdiagnosis or false disease classification, for example as nonalcoholic steatohepatitis (NASH), is high, particularly with regard to genetic data which indicate a higher incidence of the disease.

show abstract

Cholesterinesterspeicherkrankheit als Ursache einer Hepatomegalie im Kindesalter

Cited by 4 publications

References 8 publications

Cholesteryl Ester Storage Disease: an Easily Missed Diagnosis in Oligosymptomatic Children

Cholesteryl Ester Storage Disease: an Easily Missed Diagnosis in Oligosymptomatic Children

Metabolic disorders and storage diseases

Cholesterol ester storage disease

Contact Info

Product

Resources

About