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Posted by : - Dr Amit Kumar Sanyal

Title : - A case   of  Abetalipoproteinemia ?

From the presentations it appears to be a case of fat malabsorption with neurological involvement. It corroborates best with ABETALIPOPROTEINEMIA.What about other neurological features.Sensory changes? one should do retinoscopy to look for retinitis pigmentosa.About investigations one should do total fecal fat estimation,small intestinal biopsy blood slide for acanthocytes and nerve conduction velocity study.

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