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Cholesteryl Ester Storage Disease: Case Report During Childhood

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Pediatric and Developmental Pathology

ABSTRACT

Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3½-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid lipase activity in leukocytes.

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Authors and Affiliations

  1. Pediatric Pathology Unit, Hacettepe University Children's Hospital, 06100 Ankara, Turkey , , , , , , TR

    Zuhal Akçören & Safiye Göğüş

  2. Pediatric Gastroenterology Unit, Hacettepe University Children's Hospital, 06100 Ankara, Turkey , , , , , , TR

    Nurten Koçak, Figen Gürakan, Hasan Özen & Aysel Yüce

Authors
  1. Zuhal Akçören
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  2. Safiye Göğüş
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  3. Nurten Koçak
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  4. Figen Gürakan
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  5. Hasan Özen
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  6. Aysel Yüce
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Additional information

Received April 3, 1998; accepted December 21, 1998.

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Akçören, Z., Göğüş, S., Koçak, N. et al. Cholesteryl Ester Storage Disease: Case Report During Childhood. Pediatr. Dev. Pathol. 2, 574–576 (1999). https://doi.org/10.1007/s100249900164

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  • DOI: https://doi.org/10.1007/s100249900164

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