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A neonatal presentation of factor V deficiency: A case report
BACKGROUND: Factor V deficiency is a rare autosomal recessive coagulation disorder. Awareness of presenting features and management is important to avoid bleeding complications associated with mortality and neurodisability. CASE PRESENTATION: A 6-day-old Pakistani boy was admitted with bleeding from...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2007
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1805439/ https://www.ncbi.nlm.nih.gov/pubmed/17313676 http://dx.doi.org/10.1186/1471-2431-7-8 |
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author | Chingale, Amol Eisenhut, Michael Gadiraju, Anjali Liesner, Ri |
author_facet | Chingale, Amol Eisenhut, Michael Gadiraju, Anjali Liesner, Ri |
author_sort | Chingale, Amol |
collection | PubMed |
description | BACKGROUND: Factor V deficiency is a rare autosomal recessive coagulation disorder. Awareness of presenting features and management is important to avoid bleeding complications associated with mortality and neurodisability. CASE PRESENTATION: A 6-day-old Pakistani boy was admitted with bleeding from the left nipple. His parents were first cousins. A coagulation screen showed a prothrombin time of 41 s (control 14 s), a partial thromboplastin time of 132 s (control 33 s) and a normal thrombin time of 15 s (control 14 s). Factor V activity was <0.01 IU/ml. Oral tranexamic acid was started. At 5 weeks of age the child presented with irritability, lethargy and reduced feeding and a drop of hemoglobin to 5.6 g/dl. A cranial computed tomography scan showed a right intra-cerebral bleed extending from the frontal lobe to the parieto-occipital region with shift of the midline to the left. A regime of 20 ml/kg of fresh frozen plasma four times a week was instituted and has prevented further bleeds up to the present age of 21 months. Neurodevelopment remained normal. CONCLUSION: This case illustrates that in an unusually bleeding newborn of consanguineous parents rare severe homozygous bleeding disorders need to be considered. Nipple bleeding may be the first presentation of a congenital bleeding disorder. In cases of factor V deficiency where factor concentrates are not available long term use of fresh frozen plasma can prevent potentially life threatening bleeding. |
format | Text |
id | pubmed-1805439 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2007 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-18054392007-02-27 A neonatal presentation of factor V deficiency: A case report Chingale, Amol Eisenhut, Michael Gadiraju, Anjali Liesner, Ri BMC Pediatr Case Report BACKGROUND: Factor V deficiency is a rare autosomal recessive coagulation disorder. Awareness of presenting features and management is important to avoid bleeding complications associated with mortality and neurodisability. CASE PRESENTATION: A 6-day-old Pakistani boy was admitted with bleeding from the left nipple. His parents were first cousins. A coagulation screen showed a prothrombin time of 41 s (control 14 s), a partial thromboplastin time of 132 s (control 33 s) and a normal thrombin time of 15 s (control 14 s). Factor V activity was <0.01 IU/ml. Oral tranexamic acid was started. At 5 weeks of age the child presented with irritability, lethargy and reduced feeding and a drop of hemoglobin to 5.6 g/dl. A cranial computed tomography scan showed a right intra-cerebral bleed extending from the frontal lobe to the parieto-occipital region with shift of the midline to the left. A regime of 20 ml/kg of fresh frozen plasma four times a week was instituted and has prevented further bleeds up to the present age of 21 months. Neurodevelopment remained normal. CONCLUSION: This case illustrates that in an unusually bleeding newborn of consanguineous parents rare severe homozygous bleeding disorders need to be considered. Nipple bleeding may be the first presentation of a congenital bleeding disorder. In cases of factor V deficiency where factor concentrates are not available long term use of fresh frozen plasma can prevent potentially life threatening bleeding. BioMed Central 2007-02-21 /pmc/articles/PMC1805439/ /pubmed/17313676 http://dx.doi.org/10.1186/1471-2431-7-8 Text en Copyright © 2007 Chingale et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Chingale, Amol Eisenhut, Michael Gadiraju, Anjali Liesner, Ri A neonatal presentation of factor V deficiency: A case report |
title | A neonatal presentation of factor V deficiency: A case report |
title_full | A neonatal presentation of factor V deficiency: A case report |
title_fullStr | A neonatal presentation of factor V deficiency: A case report |
title_full_unstemmed | A neonatal presentation of factor V deficiency: A case report |
title_short | A neonatal presentation of factor V deficiency: A case report |
title_sort | neonatal presentation of factor v deficiency: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1805439/ https://www.ncbi.nlm.nih.gov/pubmed/17313676 http://dx.doi.org/10.1186/1471-2431-7-8 |
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