Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations
Introduction Glanzmann thrombasthenia is a rare congenital platelet dysfunction. Case characteristics A 2-day-old male neonate delivered at 35 weeks’ gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk fac...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Gultekin, Nazli Dilay [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2019 |
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| Schlagwörter: |
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| Anmerkung: |
© Indian Academy of Pediatrics 2019 |
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| Übergeordnetes Werk: |
Enthalten in: Indian Pediatrics - Springer-Verlag, 2010, 56(2019), 2 vom: Feb., Seite 143-144 |
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volume:56 ; year:2019 ; number:2 ; month:02 ; pages:143-144 |
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10.1007/s13312-019-1489-3 |
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| 520 | |a Introduction Glanzmann thrombasthenia is a rare congenital platelet dysfunction. Case characteristics A 2-day-old male neonate delivered at 35 weeks’ gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/ CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations. Outcome General precautions to avoid injuries and spontaneous bleeding were advised. Message Life-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors. | ||
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10.1007/s13312-019-1489-3 doi (DE-627)SPR03129829X (SPR)s13312-019-1489-3-e DE-627 ger DE-627 rakwb eng Gultekin, Nazli Dilay verfasserin aut Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Indian Academy of Pediatrics 2019 Introduction Glanzmann thrombasthenia is a rare congenital platelet dysfunction. Case characteristics A 2-day-old male neonate delivered at 35 weeks’ gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/ CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations. Outcome General precautions to avoid injuries and spontaneous bleeding were advised. Message Life-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors. Bleeding (dpeaa)DE-He213 Jaundice (dpeaa)DE-He213 Neonate (dpeaa)DE-He213 Thrombocytopenia (dpeaa)DE-He213 Yilmaz, Fatma Hilal aut Tokgoz, Huseyin aut Tarakci, Nuriye aut Caliskan, Umran aut Enthalten in Indian Pediatrics Springer-Verlag, 2010 56(2019), 2 vom: Feb., Seite 143-144 (DE-627)SPR031274943 nnns volume:56 year:2019 number:2 month:02 pages:143-144 https://dx.doi.org/10.1007/s13312-019-1489-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_70 GBV_ILN_72 GBV_ILN_110 GBV_ILN_131 GBV_ILN_160 GBV_ILN_376 GBV_ILN_607 AR 56 2019 2 02 143-144 |
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10.1007/s13312-019-1489-3 doi (DE-627)SPR03129829X (SPR)s13312-019-1489-3-e DE-627 ger DE-627 rakwb eng Gultekin, Nazli Dilay verfasserin aut Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Indian Academy of Pediatrics 2019 Introduction Glanzmann thrombasthenia is a rare congenital platelet dysfunction. Case characteristics A 2-day-old male neonate delivered at 35 weeks’ gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/ CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations. Outcome General precautions to avoid injuries and spontaneous bleeding were advised. Message Life-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors. Bleeding (dpeaa)DE-He213 Jaundice (dpeaa)DE-He213 Neonate (dpeaa)DE-He213 Thrombocytopenia (dpeaa)DE-He213 Yilmaz, Fatma Hilal aut Tokgoz, Huseyin aut Tarakci, Nuriye aut Caliskan, Umran aut Enthalten in Indian Pediatrics Springer-Verlag, 2010 56(2019), 2 vom: Feb., Seite 143-144 (DE-627)SPR031274943 nnns volume:56 year:2019 number:2 month:02 pages:143-144 https://dx.doi.org/10.1007/s13312-019-1489-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_70 GBV_ILN_72 GBV_ILN_110 GBV_ILN_131 GBV_ILN_160 GBV_ILN_376 GBV_ILN_607 AR 56 2019 2 02 143-144 |
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10.1007/s13312-019-1489-3 doi (DE-627)SPR03129829X (SPR)s13312-019-1489-3-e DE-627 ger DE-627 rakwb eng Gultekin, Nazli Dilay verfasserin aut Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Indian Academy of Pediatrics 2019 Introduction Glanzmann thrombasthenia is a rare congenital platelet dysfunction. Case characteristics A 2-day-old male neonate delivered at 35 weeks’ gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/ CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations. Outcome General precautions to avoid injuries and spontaneous bleeding were advised. Message Life-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors. Bleeding (dpeaa)DE-He213 Jaundice (dpeaa)DE-He213 Neonate (dpeaa)DE-He213 Thrombocytopenia (dpeaa)DE-He213 Yilmaz, Fatma Hilal aut Tokgoz, Huseyin aut Tarakci, Nuriye aut Caliskan, Umran aut Enthalten in Indian Pediatrics Springer-Verlag, 2010 56(2019), 2 vom: Feb., Seite 143-144 (DE-627)SPR031274943 nnns volume:56 year:2019 number:2 month:02 pages:143-144 https://dx.doi.org/10.1007/s13312-019-1489-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_70 GBV_ILN_72 GBV_ILN_110 GBV_ILN_131 GBV_ILN_160 GBV_ILN_376 GBV_ILN_607 AR 56 2019 2 02 143-144 |
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10.1007/s13312-019-1489-3 doi (DE-627)SPR03129829X (SPR)s13312-019-1489-3-e DE-627 ger DE-627 rakwb eng Gultekin, Nazli Dilay verfasserin aut Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Indian Academy of Pediatrics 2019 Introduction Glanzmann thrombasthenia is a rare congenital platelet dysfunction. Case characteristics A 2-day-old male neonate delivered at 35 weeks’ gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/ CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations. Outcome General precautions to avoid injuries and spontaneous bleeding were advised. Message Life-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors. Bleeding (dpeaa)DE-He213 Jaundice (dpeaa)DE-He213 Neonate (dpeaa)DE-He213 Thrombocytopenia (dpeaa)DE-He213 Yilmaz, Fatma Hilal aut Tokgoz, Huseyin aut Tarakci, Nuriye aut Caliskan, Umran aut Enthalten in Indian Pediatrics Springer-Verlag, 2010 56(2019), 2 vom: Feb., Seite 143-144 (DE-627)SPR031274943 nnns volume:56 year:2019 number:2 month:02 pages:143-144 https://dx.doi.org/10.1007/s13312-019-1489-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_70 GBV_ILN_72 GBV_ILN_110 GBV_ILN_131 GBV_ILN_160 GBV_ILN_376 GBV_ILN_607 AR 56 2019 2 02 143-144 |
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10.1007/s13312-019-1489-3 doi (DE-627)SPR03129829X (SPR)s13312-019-1489-3-e DE-627 ger DE-627 rakwb eng Gultekin, Nazli Dilay verfasserin aut Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Indian Academy of Pediatrics 2019 Introduction Glanzmann thrombasthenia is a rare congenital platelet dysfunction. Case characteristics A 2-day-old male neonate delivered at 35 weeks’ gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/ CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations. Outcome General precautions to avoid injuries and spontaneous bleeding were advised. Message Life-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors. Bleeding (dpeaa)DE-He213 Jaundice (dpeaa)DE-He213 Neonate (dpeaa)DE-He213 Thrombocytopenia (dpeaa)DE-He213 Yilmaz, Fatma Hilal aut Tokgoz, Huseyin aut Tarakci, Nuriye aut Caliskan, Umran aut Enthalten in Indian Pediatrics Springer-Verlag, 2010 56(2019), 2 vom: Feb., Seite 143-144 (DE-627)SPR031274943 nnns volume:56 year:2019 number:2 month:02 pages:143-144 https://dx.doi.org/10.1007/s13312-019-1489-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_70 GBV_ILN_72 GBV_ILN_110 GBV_ILN_131 GBV_ILN_160 GBV_ILN_376 GBV_ILN_607 AR 56 2019 2 02 143-144 |
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Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations |
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Introduction Glanzmann thrombasthenia is a rare congenital platelet dysfunction. Case characteristics A 2-day-old male neonate delivered at 35 weeks’ gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/ CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations. Outcome General precautions to avoid injuries and spontaneous bleeding were advised. Message Life-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors. © Indian Academy of Pediatrics 2019 |
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Introduction Glanzmann thrombasthenia is a rare congenital platelet dysfunction. Case characteristics A 2-day-old male neonate delivered at 35 weeks’ gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/ CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations. Outcome General precautions to avoid injuries and spontaneous bleeding were advised. Message Life-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors. © Indian Academy of Pediatrics 2019 |
| abstract_unstemmed |
Introduction Glanzmann thrombasthenia is a rare congenital platelet dysfunction. Case characteristics A 2-day-old male neonate delivered at 35 weeks’ gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/ CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations. Outcome General precautions to avoid injuries and spontaneous bleeding were advised. Message Life-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors. © Indian Academy of Pediatrics 2019 |
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Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations |
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https://dx.doi.org/10.1007/s13312-019-1489-3 |
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Yilmaz, Fatma Hilal Tokgoz, Huseyin Tarakci, Nuriye Caliskan, Umran |
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