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Importance of screening the peripheral smear
Sarala Rajajee1, Malathi Sathyasekaran, Janani Shankar
1Department of Pediatric Medicine, Kanchi Kamakoti Childs Trust Hospital, Chennai, India. saralarajajee@yahoo.com
Indian Journal of Pediatrics
|November 8, 2002
Summary
Acanthocytes on peripheral smear indicate a potential diagnosis of abetalipoproteinemia, a rare genetic disorder. Early detection through simple blood tests can streamline diagnosis and management.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Abetalipoproteinemia is a rare autosomal recessive disorder affecting lipid absorption and transport.
- Failure to thrive from infancy suggests a significant underlying metabolic or genetic condition.
Observation:
- A 5-year-old boy presented with failure to thrive and a family history of sibling death and maternal abortions.
- Peripheral blood smear revealed over 50% acanthocytes, a distinctive red blood cell morphology.
- Lipid profile and lipoprotein electrophoresis showed hypolipidemia and an absent beta-lipoprotein band.
Findings:
- Jejunal mucosal biopsy confirmed abetalipoproteinemia by revealing lipid-laden enterocytes.
- The presence of acanthocytes is a key indicator for suspecting this condition.
Implications:
- Highlights the diagnostic utility of peripheral smear examination in identifying rare genetic disorders.
- Emphasizes the importance of a streamlined diagnostic approach for complex pediatric cases.
- Early diagnosis of abetalipoproteinemia is crucial for managing associated complications and improving patient outcomes.