| |  Online-Ressource |
|---|
| Verfasst von: | Sergi, Consolato M. [VerfasserIn]  |
|---|
| | Beedgen, Bernd [VerfasserIn] |
|---|
| | Kopitz, Jürgen [VerfasserIn] |
|---|
| | Zilow, Eugen [VerfasserIn] |
|---|
| | Zoubaa, Saida [VerfasserIn] |
|---|
| | Otto, Herwart F. [VerfasserIn] |
|---|
| | Cantz, Michael [VerfasserIn] |
|---|
| | Linderkamp, Otwin [VerfasserIn] |
|---|
| Titel: | Refractory congenital ascites as a manifestation of neonatal sialidosis |
|---|
| Titelzusatz: | clinical, biochemical and morphological studies in a newborn Syrian male infant : presented in part at the 12th International Meeting of the German Pediatric Pathologists (Halle, Germany, 20th-22nd November, 1998) |
|---|
| Verf.angabe: | Consolato Sergi, Bernhard Beedgen, Jürgen Kopitz, Eugen Zilow, Saida Zoubaa, Herwart F. Otto, Michael Cantz, Otwin Linderkamp |
|---|
| Jahr: | 1999 |
|---|
| Umfang: | 9 S. |
|---|
| Fussnoten: | Gesehen am 02.11.2017 |
|---|
| Titel Quelle: | Enthalten in: American journal of perinatology |
|---|
| Ort Quelle: | Stuttgart : Thieme, 1983 |
|---|
| Jahr Quelle: | 1999 |
|---|
| Band/Heft Quelle: | 16(1999), 3, Seite 133-141 |
|---|
| ISSN Quelle: | 1098-8785 |
|---|
| Abstract: | A Syrian newborn with coarse facies, hepato-splenomegaly, and refractory ascites is reported. Examination of the ascitic fluid showed vacuolated lymphocytes and thin-layer chromatography of urinary oligosaccharides revealed an abnormal pattern indicative of sialidosis. Despite intensive care, the baby died of respiratory insufficiency 28 days after birth. In cultured skin fibroblasts an increase of the incorporation of [14C]methylamine pointed to excessive lysosomal storage and the demonstration of an isolated deficiency of alpha-N-acetylneuraminidase (sialidase) led to the diagnosis of a sialidosis. At postmortem examination, foam cells were found mostly in bone marrow, liver, and brain. To date very few cases of neonatal sialidosis have been reported, and, to the best of our knowledge, this is the first child with neonatal sialidosis from Syria and the first case of neonatal sialidosis studied by the [14C]methylamine incorporation assay. |
|---|
| DOI: | doi:10.1055/s-2007-993847 |
|---|
| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: http://dx.doi.org/10.1055/s-2007-993847 |
|---|
| | DOI: https://doi.org/10.1055/s-2007-993847 |
|---|
| Datenträger: | Online-Ressource |
|---|
| Dokumenttyp: | Konferenzschrift |
|---|
| Sprache: | eng |
|---|
| Sach-SW: | Humans |
|---|
| | Male |
|---|
| | Liver |
|---|
| | Ascites |
|---|
| | Facies |
|---|
| | Fatal Outcome |
|---|
| | Hepatomegaly |
|---|
| | Hydrops Fetalis |
|---|
| | Infant, Newborn |
|---|
| | Liver Function Tests |
|---|
| | Lysosomal Storage Diseases |
|---|
| | Neuraminidase |
|---|
| | Splenomegaly |
|---|
| | Syndrome |
|---|
| | Syria |
|---|
| K10plus-PPN: | 1564957012 |
|---|
| Verknüpfungen: | → Zeitschrift |
|---|
Refractory congenital ascites as a manifestation of neonatal sialidosis / Sergi, Consolato M. [VerfasserIn]; 1999 (Online-Ressource)
