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Abetalipoproteinemia is an uncommon potentially treatable cause of early-onset ataxia associated with retinitis pigmentosa and acanthocytes. Its clinical manifestations are predominantly due to malabsorption of fat-soluble vitamins A, D, E… Click to show full abstract
Abetalipoproteinemia is an uncommon potentially treatable cause of early-onset ataxia associated with retinitis pigmentosa and acanthocytes. Its clinical manifestations are predominantly due to malabsorption of fat-soluble vitamins A, D, E and K. 1 External ophthalmoplegia is an unusual clinical manifestation of abetalipoproteinemia described in the literature. 2 – 5 We report a case of genetically proven abetalipoproteinemia presenting with chronic diarrhea, ataxia, retinitis pigmentosa along with unusual clinical manifestation of external ophthalmoplegia. A 25-year-old male, born to a consanguineous parentage with otherwise normal perinatal, developmental and family history presented with recurrent large volume, oily consistency diarrhea
Journal Title: Movement Disorders Clinical Practice
Year Published: 2022
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