A case report of A-Beta Lipoproteinemia

Abstract

Objective: A-beta lipoproteinemia is a genetic disease with recessive autosomal inheritance beginning with digestive symptoms like diarrhea and malabsorption and progressing with growth impairments in patient’s appearance. Early diagnosis and treatment remarkably reduces neurologic and eye disorders. Case: A 7-month baby was admitted to digestive disease unit of children medical center for his growth impairment. During infancy he had digestive symptoms and after 5 years of age developed neurologic and ophthalmic symptoms (Disorders) with reduced triglycerides and cholesterol levels in serum. Severe acanthocytosis was detected in his peripheral blood smears. Conclusion: Diagnosis was based on clinical manifestations, special histopathologic changes of duodenum and acanthocytosis of peripheral blood smear. Early diagnosis and proper treatment of A-beta lipoproteinemia relieves gastrointestinal disorders and neurologic symptoms. Meanwhile it prevents early death of the patients.

Keywords

• a-beta lipoproteinemia
• acanthocytosis
• cholesterol levels