| Autor: |
Fatima Farid Mir, Anjan Madasu, Hani Humad, Asim Noor Rana |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Dubai Medical Journal, Pp 161-164 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2571-726X |
| DOI: |
10.1159/000516288 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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