Neonate with a swelling over the back – Rare bleeding disorder
A female baby presented with a swelling over the dorsolumbar region and yellowish discoloration of the skin on day 2 of life. The mother had no comorbidities, normal antenatal scans, no chronic medications, and was born by normal vaginal delivery. The baby had high bilirubin levels, requiring photot...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Muller Journal of Medical Sciences and Research |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/mjmsr.mjmsr_27_24 |
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| _version_ | 1849420217916063744 |
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| author | R. Chidambar B. K. Praveen Harsha Prasad Lashkari |
| author_facet | R. Chidambar B. K. Praveen Harsha Prasad Lashkari |
| author_sort | R. Chidambar |
| collection | DOAJ |
| description | A female baby presented with a swelling over the dorsolumbar region and yellowish discoloration of the skin on day 2 of life. The mother had no comorbidities, normal antenatal scans, no chronic medications, and was born by normal vaginal delivery. The baby had high bilirubin levels, requiring phototherapy. Magnetic resonance imaging showed a cystic lesion in the right paravertebral dorsolumbar region, and a hematoma was confirmed. On day 7 of life, the baby appeared pale with new ecchymosis over the lumbar region with persistent umbilical bleed. A factor XIII (FXIII) test showed clot FXIII deficiency, and fresh frozen plasma transfusion was transfused and recovered well. The baby’s genetic test revealed a homozygous variant in the F13A1 gene associated with FXIII deficiency. |
| format | Article |
| id | doaj-art-d9225cf7c74543db91fc95eb7f665cb0 |
| institution | Kabale University |
| issn | 0975-9727 2321-3701 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Muller Journal of Medical Sciences and Research |
| spelling | doaj-art-d9225cf7c74543db91fc95eb7f665cb02025-08-20T03:31:48ZengWolters Kluwer Medknow PublicationsMuller Journal of Medical Sciences and Research0975-97272321-37012025-01-01161727510.4103/mjmsr.mjmsr_27_24Neonate with a swelling over the back – Rare bleeding disorderR. ChidambarB. K. PraveenHarsha Prasad LashkariA female baby presented with a swelling over the dorsolumbar region and yellowish discoloration of the skin on day 2 of life. The mother had no comorbidities, normal antenatal scans, no chronic medications, and was born by normal vaginal delivery. The baby had high bilirubin levels, requiring phototherapy. Magnetic resonance imaging showed a cystic lesion in the right paravertebral dorsolumbar region, and a hematoma was confirmed. On day 7 of life, the baby appeared pale with new ecchymosis over the lumbar region with persistent umbilical bleed. A factor XIII (FXIII) test showed clot FXIII deficiency, and fresh frozen plasma transfusion was transfused and recovered well. The baby’s genetic test revealed a homozygous variant in the F13A1 gene associated with FXIII deficiency.https://journals.lww.com/10.4103/mjmsr.mjmsr_27_24cryoprecipitatefactor xiii deficiencyneonatepersistent umbilical bleed |
| spellingShingle | R. Chidambar B. K. Praveen Harsha Prasad Lashkari Neonate with a swelling over the back – Rare bleeding disorder Muller Journal of Medical Sciences and Research cryoprecipitate factor xiii deficiency neonate persistent umbilical bleed |
| title | Neonate with a swelling over the back – Rare bleeding disorder |
| title_full | Neonate with a swelling over the back – Rare bleeding disorder |
| title_fullStr | Neonate with a swelling over the back – Rare bleeding disorder |
| title_full_unstemmed | Neonate with a swelling over the back – Rare bleeding disorder |
| title_short | Neonate with a swelling over the back – Rare bleeding disorder |
| title_sort | neonate with a swelling over the back rare bleeding disorder |
| topic | cryoprecipitate factor xiii deficiency neonate persistent umbilical bleed |
| url | https://journals.lww.com/10.4103/mjmsr.mjmsr_27_24 |
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