Acanthocytosis history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Patients with acanthocytosis may have a history of chronic diarrhea with pale, foul-smelling, and bulky stools; loss of appetite and vomiting; and slow weight gain and decreased growth, possibly including a bleeding tendency. Patients may report symptoms of ataxia, tremors, and visual abnormalities or jaundice, abdominal pain, pallor, dark urine, and recurrent infections. Adolescents and adults may report dyskinesias, specifically orolingual, and cognitive deterioration.