Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome
Fifteen-month-old male child, known to have a congenital bone marrow failure syndrome, presented in a state of shock with severe lactic acidosis following a brief episode of vomiting. Hospital stay was complicated by recurrent bouts of metabolic acidosis and progressive hepatic failure. Blood mitoch...
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| Format: | Article |
| Language: | English |
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Knowledge E
2021-05-01
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| Series: | Dubai Medical Journal |
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| Online Access: | https://www.karger.com/Article/FullText/516288 |
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| author | Fatima Farid Mir Anjan Madasu Hani Humad Asim Noor Rana |
| author_facet | Fatima Farid Mir Anjan Madasu Hani Humad Asim Noor Rana |
| author_sort | Fatima Farid Mir |
| collection | DOAJ |
| description | Fifteen-month-old male child, known to have a congenital bone marrow failure syndrome, presented in a state of shock with severe lactic acidosis following a brief episode of vomiting. Hospital stay was complicated by recurrent bouts of metabolic acidosis and progressive hepatic failure. Blood mitochondrial DNA sequencing revealed a large heteroplasmic 4,977 bp mitochondrial deletion (approximately 40% of all mitochondrial copies) suggestive of Pearson marrow-pancreas syndrome. By virtue of natural disease course, within a month of admission child succumbed to end-stage liver failure with multi-organ failure and died. |
| format | Article |
| id | doaj-art-dc71c3d2f15e40a8bc6cd6d4dd0a764a |
| institution | Kabale University |
| issn | 2571-726X |
| language | English |
| publishDate | 2021-05-01 |
| publisher | Knowledge E |
| record_format | Article |
| series | Dubai Medical Journal |
| spelling | doaj-art-dc71c3d2f15e40a8bc6cd6d4dd0a764a2025-01-02T08:53:17ZengKnowledge EDubai Medical Journal2571-726X2021-05-0116116410.1159/000516288516288Lactic Acidosis in a Congenital Bone Marrow Failure SyndromeFatima Farid Mir0Anjan Madasu1Hani Humad2Asim Noor Rana3General Pediatrics, Dubai Health Authority, Dubai, United Arab EmiratesPediatric Hematology and Oncology Department, Dubai Hospital, Dubai, United Arab EmiratesPediatric Hematology and Oncology Department, Dubai Hospital, Dubai, United Arab EmiratesPediatric Hematology and Oncology Department, Dubai Hospital, Dubai, United Arab EmiratesFifteen-month-old male child, known to have a congenital bone marrow failure syndrome, presented in a state of shock with severe lactic acidosis following a brief episode of vomiting. Hospital stay was complicated by recurrent bouts of metabolic acidosis and progressive hepatic failure. Blood mitochondrial DNA sequencing revealed a large heteroplasmic 4,977 bp mitochondrial deletion (approximately 40% of all mitochondrial copies) suggestive of Pearson marrow-pancreas syndrome. By virtue of natural disease course, within a month of admission child succumbed to end-stage liver failure with multi-organ failure and died.https://www.karger.com/Article/FullText/516288pearson syndromelactic acidosismitochondrial dna deletionpancytopeniametabolic decompensation |
| spellingShingle | Fatima Farid Mir Anjan Madasu Hani Humad Asim Noor Rana Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome Dubai Medical Journal pearson syndrome lactic acidosis mitochondrial dna deletion pancytopenia metabolic decompensation |
| title | Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome |
| title_full | Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome |
| title_fullStr | Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome |
| title_full_unstemmed | Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome |
| title_short | Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome |
| title_sort | lactic acidosis in a congenital bone marrow failure syndrome |
| topic | pearson syndrome lactic acidosis mitochondrial dna deletion pancytopenia metabolic decompensation |
| url | https://www.karger.com/Article/FullText/516288 |
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