Related Experiment Videos
Anaemia, vitamin E deficiency and failure to thrive in an infant
1Child Health Department, Burnley General Hospital, UK.
Insights
A baby boy with failure to thrive was diagnosed with cystic fibrosis after presenting with anemia and hemolysis. Low vitamin E levels were a key indicator in this pediatric case.
Area of Science:
- Pediatric Hematology
- Gastroenterology
- Genetic Disorders
Background:
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
- Early diagnosis and management are crucial for improving patient outcomes.
- Failure to thrive (FTT) can be an early sign of underlying conditions in infants.
Observation:
- An 8-week-old infant presented with FTT since birth.
- Clinical examination revealed severe anemia (6.6 g/dl) with abnormal red blood cells (polychromasia, nucleated red blood cells) and immature myeloid cells.
- Signs of hemolysis were present, including elevated reticulocyte count (120 x 10(9)/l) and raised unconjugated bilirubin.
Findings:
- Laboratory investigations showed low plasma protein levels and a significantly low vitamin E level.
- These findings, in conjunction with the clinical presentation, led to the diagnosis of cystic fibrosis.
Implications:
- This case highlights the importance of considering cystic fibrosis in infants with unexplained failure to thrive, anemia, and hemolysis.
- Low vitamin E levels can be a critical diagnostic clue in pediatric CF cases.
- Timely diagnosis allows for early intervention and management of CF-related complications.
Abstract:
An 8-week-old boy presented with failure to thrive from birth. He had been fed with breast and formula milk. He had an anaemia of 6.6 g/dl with polychromasia, nucleated red blood cells and immature myeloid cells in the peripheral blood. He showed evidence of haemolysis with a reticulocyte count of 120 x 10(9)/l, a raised unconjugated bilirubin and had low plasma protein levels. Investigation revealed a low vitamin E level and a diagnosis of cystic fibrosis.