Intrauterine fetal death due to Farber disease: case report
| Autor: | Koert P. Dingemans, G. Johan A. Offerhaus, Gesina van Lijnschoten, Yoav Ben-Yoseph, Johanna E. M. Groener, Saskia M. Maas |
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| Přispěvatelé: | Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 2000 |
| Předmět: |
Adult
Male Heterozygote Pathology medicine.medical_specialty Acid Ceramidase Gestational Age Spleen Ceramides Glucosylceramides Umbilical cord Amidohydrolases Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Pregnancy Ceramidases Leukocytes medicine Humans Fetal Death Lung Chromatography High Pressure Liquid Fetus Farber disease Fetal Growth Retardation 030219 obstetrics & reproductive medicine business.industry Gestational age General Medicine medicine.disease Lysosomal Storage Diseases medicine.anatomical_structure Liver In utero 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Female business Foam Cells |
| Zdroj: | Pediatric and developmental pathology, 3(6), 597-602. Society for Pediatric Pathology |
| ISSN: | 1093-5266 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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