A Rare Case of Ophthalmoplegia with Ataxia in Genetically Proven Abetalipoproteinemia
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DOI: 10.1002/mdc3.13626
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… read more here.
Keywords: abetalipoproteinemia; case ophthalmoplegia; rare case; genetically proven ... See more keywords