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Abetalipoproteinemia: a case report.

M A Selimoğlu1, M Eşrefoğlu, C Gündoğdu

  • 1Department of Pediatrics, Atatürk University Faculty of Medicine, Erzurum, Turkey.

The Turkish Journal of Pediatrics
|October 11, 2001
PubMed
Summary

Abetalipoproteinemia is a rare genetic disorder causing fat malabsorption and developmental delay. This case highlights a six-month-old infant presenting with chronic diarrhea and specific lipid deficiencies.

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Area of Science:

  • Genetics
  • Pediatrics
  • Gastroenterology

Background:

  • Abetalipoproteinemia is a rare autosomal recessive disorder.
  • Characterized by steatorrhea, poor weight gain, acanthocytosis, and retinitis pigmentosa.

Observation:

  • A six-month-old infant presented with chronic diarrhea from one month of age.
  • The infant was cachectic with delayed motor development.
  • Stool microscopy revealed fat, with laboratory tests showing mild anemia, reticulocytosis, acanthocytosis, and deficiencies in triglycerides, cholesterol, LDL, HDL, and apolipoproteins A and B.

Findings:

  • Jejunal biopsy showed normal villi but significant intracellular lipid deposition.
  • Ophthalmological examination was normal at this stage.

Implications:

  • Early diagnosis and management of abetalipoproteinemia are crucial for preventing severe complications.
  • Vitamin A and E supplementation is a key therapeutic intervention.

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