Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome-Reference-Cited by-同舟云学术

Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome

Published:2021-05-07 Issue:3 Volume:4 Page:276-279
ISSN:2571-726X
Container-title:Dubai Medical Journal
language:en
Short-container-title:Dubai Med J

Author:

Mir Fatima Farid,Madasu Anjan,Humad Hani,Rana Asim Noor

Abstract

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.

Publisher

S. Karger AG

Reference7 articles.

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