Intrauterine fetal death due to Farber disease: Case report

Gesina Van Lijnschoten, Johanna E M Groener, Saskia M. Maas, Yoav Ben-Yoseph, Koert P. Dingemans, G. Johan A Offerhaus

Research output: Contribution to journalArticle

Abstract

We report a case of Farber disease in a fetus who died in utero at a gestational age of 29 weeks. Macroscopic examination showed moderate postmortem changes in a microcephalic female fetus (46,XX) with mild internal hydrops, two vessels in the umbilical cord, and a moderately enlarged, relatively well-preserved spleen. Microscopic examination showed foamy cells in the spleen. Electron microscopic examination revealed the presence of Farber bodies within these foamy cells. Enzyme studies of the fetus were not possible because all tissues were formalin fixed. Lipids were extracted from formalin-fixed tissues and increased levels of ceramide and the presence of hydroxyceramide in tissue of the spleen, liver, and lung were found. Glucosylceramide was not increased excluding saposin-precursor-deficiency. Because of these findings, both parents were tested for acid ceramidase activity in their leukocytes. They both had markedly reduced enzyme activity consistent with heterozygosity for Farber disease. To the best of our knowledge, this is the first published case of Farber disease in Dutch nonconsanguineous parents.

Original languageEnglish (US)
Pages (from-to)597-602
Number of pages6
JournalPediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Volume3
Issue number6
DOIs
Publication statusPublished - 2000
Externally publishedYes

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Keywords

  • Farber disease
  • Intrauterine fetal death
  • Lipogranulomatosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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