Neurological Involvement with Acanthocytosis is seen in all of the following except:
Answer is D (Zellweger Syndrome): Zellweger Syndrome (Cerebro-hepato-renal syndrome) is typically not associated with Acanthocytosis Neurological Syndromes with Acanthocytosis Abetalipoproteinemia ((Bassen-Kornzweig Disease) Choreo-acanthocytosis (Levine-Critchley Syndrome; Neuroacanthocytosis) McLeod Syndrome Wolman Syndrome (Neurological involvement is generally mild) Acanthocytes have also been repoed in Hallervorden-Spatz disease and Huntington Disease Like 2 (HDL-2) Acanthocytosis The appearance of spiculated erythrocytes in a peripheral blood smear or electron microscopy may be caused by changes in the lipid composition or structure of the red blood cell membrane. Two basic types are distinguished Echinocytes (burr cells) that have a serrated outline with small, uniform projections, and Acanthocytes (spur cells) with few irregular spicules of varying size. Differential diagnosis of Acanthocytosis and neurological Syndromes Diagnosis Clinical features Age of onset Abetalipoproteinemia Diarrhea, fat malabsorption, vitamin. deficiencies, neurological abnormalities, ataxia, low cholesterol and triglycerides Neonatal period Wolman disease Diarrhea, failure to thrive, hepatosplenomegaly, adrenal calcifications Neonatal period Choreo-Acanthocytosis Progressive neurological symptoms, chorea, epilepsy, dementia; TCK, normal lipoproteins; Adolescence or adult life VPS 1 3A mutations McLeod phenotype, McLeod syndrome Little or no reaction with various antisera in the Kell blood group system; sometimes progressive neurological symptoms, chorea; TCK, normal lipoproteins; XK mutations Adult life (neurological symptoms)
Abetalipoprotenemia
Choreoacanthocytosis
McLeod Syndrome
Zellweger Syndrome